O tumor estromal gastrointestinal (GIST) é o tipo mais comum de câncer que surge nas células de suporte do trato gastrointestinal (TGI). Geralmente aparece em adultos com mais de 40 anos (a média de idade é 63 anos) e é raro em crianças. Pode surgir em várias partes do TGI, sendo mais comum no estômago ou intestino delgado, mas também pode ocorrer, com menos frequência, no esôfago, apêndice, reto e cólon. Os GISTs podem não apresentar sintomas ou manifestar vários sinais inespecíficos, dependendo da localização e do tamanho do tumor, como perda de apetite, anemia, perda de peso, cansaço, desconforto ou sensação de inchaço/plenitude no abdômen, náuseas e vômitos. Também podem causar uma massa (caroço) no abdômen, sangue nas fezes e obstrução intestinal. Os GISTs também podem estar associados a síndromes familiares, como a tríade de Carney e a neurofibromatose tipo 1.
Introdução
O que você precisa saber de cara
Um tumor estromal gastrointestinal (GIST) é um tipo de tumor que ocorre no trato gastrointestinal, mais comumente no estômago ou no intestino delgado. Acredita‑se que esse tipo de tumor se desenvolva a partir de células especializadas encontradas no trato gastrointestinal chamadas células intersticiais de Cajal (ICCs) ou de precursores dessas células. As pessoas com a condição podem desenvolver um ou mais tumores. Os GISTs geralmente são encontrados em adultos entre 40 e 70 anos; raramente, crianças e jovens adultos desenvolvem esse tipo de tumor.
Tumores pequenos podem não causar sinais ou sintomas. No entanto, algumas pessoas com GISTs podem sentir dor ou inchaço na região abdominal, náuseas, vômitos, perda de apetite ou perda de peso. Às vezes, os tumores provocam sangramento no trato gastrointestinal, o que pode levar a contagens baixas de glóbulos vermelhos (anemia) e, consequentemente, fraqueza e cansaço. O sangramento nos intestinos pode causar fezes negras e alcatroadas, e o sangramento na garganta ou no estômago pode causar vômito de sangue.
Pessoas com a condição sem histórico familiar de GIST normalmente têm apenas um tumor (chamado GIST esporádico). Pessoas com histórico familiar de GISTs (chamados GISTs familiares) costumam ter múltiplos tumores e sinais ou sintomas adicionais, incluindo crescimento não cancerígeno (hiperplasia) de outras células no trato gastrointestinal e manchas escuras na pele em várias áreas do corpo. Algumas pessoas com a condição apresentam uma doença de pele chamada urticária pigmentosa (também conhecida como mastocitose cutânea maculopapular), que se caracteriza por manchas elevadas de pele acinzentada que ardem ou coçam ao toque.
Uma forma rara de GIST, chamada GIST deficiente em succinato desidrogenase (SDH), tende a ocorrer na infância ou na juventude e afeta mulheres com mais frequência que homens. Nessa forma, os tumores estão quase sempre no estômago. Pessoas com um GIST deficiente em SDH têm alto risco de desenvolver outros tipos de tumores, particularmente tumores não cancerígenos no sistema nervoso chamados paragangliomas e tumores não cancerígenos nos pulmões chamados condromas pulmonares. Quando os GISTs ocorrem em combinação com paragangliomas, a condição é conhecida como síndrome de Carney‑Stratakis; a combinação de GISTs, paragangliomas e condromas pulmonares é conhecida como tríade de Carney; e a combinação de GISTs e condroma pulmonar é conhecida como tríade de Carney incompleta.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoO tumor estromal gastrointestinal (GIST) é o tipo mais comum de câncer que surge nas células de suporte do trato gastrointestinal (TGI). Geralmente aparece em adultos com mais de 40 anos (a média de idade é 63 anos) e é raro em crianças. Pode surgir em várias partes do TGI, sendo mais comum no estômago ou intestino delgado, mas também pode ocorrer, com menos frequência, no esôfago, apêndice, reto e cólon. Os GISTs podem não apresentar sintomas ou manifestar vários sinais inespecíficos, dependendo da localização e do tamanho do tumor, como perda de apetite, anemia, perda de peso, cansaço, desconforto ou sensação de inchaço/plenitude no abdômen, náuseas e vômitos. Também podem causar uma massa (caroço) no abdômen, sangue nas fezes e obstrução intestinal. Os GISTs também podem estar associados a síndromes familiares, como a tríade de Carney e a neurofibromatose tipo 1.
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Curadoria gene-doença
fontes oficiaisPheochromocytoma/paraganglioma syndrome 3
A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL3 inheritance is autosomal dominant.
Piebald trait
Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
Pheochromocytoma/paraganglioma syndrome 4
A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL4 inheritance is autosomal dominant.
Mitochondrial complex II deficiency, nuclear type 1
A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN1 inheritance is autosomal recessive.
Medicamentos e terapias
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Mecanismo: Tyrosine-protein kinase ABL inhibitor
Mecanismo: Platelet-derived growth factor receptor alpha inhibitor
Mecanismo: Platelet-derived growth factor receptor alpha inhibitor
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Variantes genéticas (ClinVar)
1.385 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 8.055 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
34 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Tumor gastrointestinal do estroma
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343 ensaios clínicos encontrados, 69 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.854
Endoscopic submucosal dissection and submucosal tunneling endoscopic resection of gastric subepithelial lesions originating from the muscle layer: a multicenter retrospective study.
Gastric subepithelial lesions (SELs) from the muscularis propria are usually managed surgically or with surveillance. Advances in endoscopic techniques now permit safe en bloc resection, even for lesions with extraluminal growth, but data from outside East Asia are scarce. We performed a multicenter retrospective study across 18 centers in Europe, the Middle East, South America and South Asia, including patients with gastric SELs from the muscularis propria resected by endoscopic submucosal dissection (ESD) or submucosal tunneling endoscopic resection (STER) between 2017 and 2024. Outcomes included en bloc resection, safety, complications, and recurrence. Eighty-two patients (62.2% women; median age 59 years) were included. Median lesion size was 2cm (range 0.6-8). Lesions were located in the cardia (18.3%), fundus (18.3%), body (40.2%), and antrum (23.2%). Histology showed gastrointestinal stromal tumors in 78.0%, leiomyomas in 19.5%, and schwannomas in 2.5%. Most were endoluminal (80.5%), 19.5% were extraluminal, and 7.3% extended beyond the serosa. ESD was performed in 65.9% and STER in 34.1%. Median procedure time was 120 min. Deliberate perforation was performed in 31.7%, while 92.3% were managed endoscopically. En bloc resection was achieved in 96.3%, with defect closure in 90.2%. Complications occurred in 7%, with no mortality. Local relapse occurred in 2.5% after a median 9-month follow up. One-third of procedures took place in non-academic centers. ESD and STER are safe and effective alternatives to surgery or surveillance for gastric SELs from the muscularis propria, including lesions with extraluminal growth. Long-term, comparative studies alongside laparoscopic surgery are warranted.
Systematic Screening via WGCNA, Machine Learning, and Validation Identifies C3 and CFD as Prognostically Significant Regulators in GIST Progression.
Gastrointestinal stromal tumor (GIST), the most common gastrointestinal mesenchymal neoplasm, remains poorly understood at the molecular level, limiting precise diagnosis and targeted therapy. This study aimed to systematically identify key GIST-associated genes through multiomic integration and experimental validation. We analyzed three GIST transcriptomic datasets from GEO, corrected batch effects via surrogate variable analysis (SVA), and identified 61 differentially expressed genes (DEGs) using limma. Weighted gene co-expression network analysis (WGCNA) highlighted progression-related modules, which were refined using random forests and LASSO regression to prioritize C3 and complement factor D (CFD), both of which showed robust diagnostic performance (AUC: 0.928 for C3; 0.955 for CFD). Experimental validation confirmed C3/CFD downregulation in GIST tissues, correlating with advanced stage and poor survival. Functional assays demonstrated their tumor-suppressive roles, inhibiting GIST cell proliferation, colony formation, and migration. CIBERSORT analysis linked C3/CFD to altered immune infiltration, while ssGSEA/GSEA implicated their involvement in lipid metabolism and oxidative phosphorylation. These findings establish C3 and CFD as critical tumor-suppressive biomarkers that modulate the immune response and reprogram metabolism, offering new avenues for GIST diagnosis and therapy.
Golgi Retention and Oncogenic Signaling of KIT Tyrosine Kinase in Gastrointestinal Stromal Tumor.
KIT, a receptor protein tyrosine kinase (RTK), is localized in the plasma membrane and binds stem cell factor. A cancer-causing permanently active mutant of KIT (KITmut) accumulates aberrantly in intracellular compartments. Oncogenic RTK mutants other than KITmut also exhibit characteristic organelle localization, unlike their wild-type counterparts. However, the precise subcellular localization of RTKmut and its biological significance in oncogenic signaling remain unclear. Recent studies have shown that in gastrointestinal stromal tumors (GISTs), KITmut is inappropriately retained in the Golgi/trans-Golgi network (TGN) area in a manner dependent on its tyrosine kinase activity. It is trapped in the biosynthetic secretory pathway in which normal RTK trafficking occurs. Importantly, KITmut is activated and exerts oncogenic signaling predominantly in the Golgi/TGN of GIST cells. Recently, key players in the Golgi retention of KITmut have been reported, but they are unlikely to be involved in the intracellular retention of other RTKs, suggesting that the retention of individual RTKs is regulated by different molecular mechanisms. Here, we review the present knowledge on KIT retention in the Golgi/TGN region in GISTs, molecular mechanisms underlying this retention, and the aberrant localization of other RTK mutants. We also discuss strategies for the medical development of RTK inhibition by blocking intracellular trafficking.
Gastric bronchogenic cyst pooled case analysis: a case report and systematic review.
Gastric bronchogenic cyst constitutes a rare form of ectopic bronchogenic cyst, with an estimated incidence of less than 1 in 68,000 to 1 in 42,000. This study reported a case who was preoperatively misdiagnosed as gastrointestinal stromal tumor and reviewed the literature on gastric bronchogenic cyst to summarize its clinical features, diagnosis, treatment, pathological manifestations, and prognosis. A systematic search of the literature in the PubMed, Embase, Cochrane Library, Web of Science and Scopus databases was conducted by two independent reviewers focusing on cases of gastric bronchogenic cyst. Firstly, we report a rare case of bronchogenic cyst in a middle-aged female, with the lesion located near the gastric fundus. After literature review, 48 cases of gastric bronchogenic cyst (male-to-female ratio of 1:1.67, mean age was 47.54 ± 15.83 years) derived from 46 studies were enrolled. Abdominal pain (45.8%) was the most prevalent symptom, whereas 15 patients (31.3%) remained asymptomatic. Gastric bronchogenic cysts predominantly affected the gastric fundus (33.3%) and cardia (27.1%). Gastrointestinal stromal tumor (37.5%) was the most frequent misdiagnosis, while 9 patients (18.8%) were misdiagnosed as cysts originating from other abdominal organs. Laparoscopic surgery was the primary treatment (50.0%), followed by laparotomy (35.4%). Median follow-up was 10 months, no postoperative recurrence or mortality was reported in the pooled cases. Gastric bronchogenic cyst is a rare and diagnostically challenging congenital abnormality with limited evidence to guide preoperative diagnosis. It should be incorporated into the differential diagnosis of gastrointestinal neoplasms, surgical resection is regarded as the effective approach for definitive diagnosis treatment.
Prediction of Mutations and Outcome in Gastrointestinal Stromal Tumors with Deep Learning: A Multicenter, Multinational Study.
Gastrointestinal stromal tumor (GIST) is the most common gastrointestinal mesenchymal tumor, driven by tyrosine-protein kinase KIT and platelet-derived growth factor receptor A (PDGFRA) mutations. Specific variants, such as KIT exon 11 deletions, carry prognostic and therapeutic implications, whereas wild-type (WT) variants derive limited benefit from tyrosine kinase inhibitors (TKIs). Given the limited reproducibility of established clinicopathological risk models, deep learning (DL) applied to whole-slide images (WSIs) emerged as a promising tool for molecular classification and prognostic assessment. We analyzed 8398 GIST cases from 21 centers in 7 countries, including 7238 with molecular data and 2638 with clinical follow-up. DL models were trained on WSIs to predict mutations, treatment sensitivity, and recurrence-free survival (RFS). DL predicted mutational status in GIST from WSIs, with area under the curve (AUC) of 0.87 for KIT, 0.96 for PDGFRA. High performance was observed for subtypes, including KIT exon 11 del-inss 557-558 (0.67) and PDGFRA exon 18 D842V (0.93). For therapeutic categories, performance reached 0.84 for avapritinib sensitivity, 0.81 for imatinib sensitivity. DL models predicted RFS, with hazard-ratios (HR) of 8.44 (95%CI 6.14-11.61) in the overall cohort and 4.74 (95%CI 3.34-6.74) in patients receiving adjuvant therapy. Prognostic performance was comparable to pathology-based scores, with highest discrimination in the overall cohort and in patients without adjuvant therapy (9.44, 95%CI (5.87-15.20)). DL applied to WSIs enables prediction of molecular alterations, treatment sensitivity, and RFS in GIST, performing comparably to established risk scores across international cohorts, providing a baseline for future multimodal predictors.
Publicações recentes
Rectal Gastrointestinal Stromal Tumor Complicated by Tumor Lysis Syndrome after Imatinib Initiation: A Rare and Fatal Case.
15-year ultra-late presentation of bifocal hepatic metastasis from gastrointestinal stromal tumor: a case report.
Analysis of Clinical Factors Impacting Imatinib Trough Concentrations in Chinese Patients With Gastrointestinal Stromal Tumors: A Real-World Study.
Expression Patterns of Succinate Dehydrogenase B: An Immunohistochemical Study of 57 Tumors With Known SDHx Germline Pathogenic Alterations.
Endoscopic tunneling and subserosal dissection using a natural orifice transluminal endoscopic surgery approach for a gastrointestinal stromal tumor.
📚 EuropePMC3.563 artigos no totalmostrando 198
CARMN::NOTCH2 Fusion-Positive Malignant Glomus Tumor of the Liver: A Rare Tumor With Review of Literature.
International journal of surgical pathologyGastric Neuroendocrine Tumor: A Report of a Rare Case.
CureusEndoscopic submucosal dissection and submucosal tunneling endoscopic resection of gastric subepithelial lesions originating from the muscle layer: a multicenter retrospective study.
Annals of gastroenterologyA giant gastrointestinal stromal tumour mimicking gastric diverticulum: a case report.
Journal of surgical case reports[Full-course perioperative management of gastrointestinal stromal tumors: the evolution of modern surgical practice from scalpel to systems engineering].
Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgeryLaparoscopic partial gastrectomy for gastric calcifying fibrous tumor: a case report and literature review.
International journal of surgery case reportsBenign Keratoses With Inverted Follicular Keratosis-Like Features in a Patient Receiving Ripretinib: A Case Report.
Journal of cutaneous pathologyRuptured jejunal gastrointestinal stromal tumor (GIST) presenting with acute hemoperitoneum in a young adult with autosomal dominant polycystic kidney disease (ADPKD).
Journal of surgical case reportsConcomitant occurrence of primary gastric sarcomatoid carcinoma and giant gastrointestinal stromal tumor: a case report and literature review.
Frontiers in oncologyUnmasking the Mimic: Clinicopathologic Insights from Gastrointestinal Leiomyosarcoma.
International journal of surgical pathologyLarge Pancreatic Gastrointestinal Stromal Tumor: A Diagnostic Quandary.
CureusMassive gastrointestinal stromal tumor with exophytic growth mimicking pelvic leiomyosarcoma: a case report and review of the literature.
International journal of surgery case reportsBeyond Laparotomy: Multimodal Strategies and Emerging Evidence in Minimally Invasive Management of Gastric Gastrointestinal Stromal Tumors.
BioMed research internationalImpact of neoadjuvant imatinib duration and tumor response on recurrence-free survival in locally advanced gastrointestinal stromal tumors: a retrospective multicenter cohort study.
World journal of surgical oncologyDesign and Synthesis of BLU-654, a Potent and Selective Mutant KIT V654A Inhibitor for the Treatment of Imatinib-Resistant GIST.
Journal of medicinal chemistryDivergent manifestations and management of GISTs of the small intestine: a case series.
Journal of surgical case reportsSurgical management of gastrointestinal stromal tumor (GIST)-Induced sarcomatosis (GISTOSIS).
Surgical oncologyQuality-of-life outcomes with pimitespib in patients with advanced gastrointestinal stromal tumor: results from the randomized, double-blind, placebo-controlled, phase III, CHAPTER-GIST-301 study.
ESMO openComparative Evaluation of Endoscopic Ultrasonography and Multi-Slice Spiral CT in Diagnosing Gastrointestinal Stromal Tumors: A Retrospective Study.
International journal of general medicineRipretinib-Induced Focal Segmental Glomerulosclerosis in a Patient With Gastrointestinal Stromal Tumor (GIST).
CureusMultifocal small bowel gastrointestinal stromal tumor causing perforation peritonitis: A rare cause of acute abdomen.
Radiology case reportsPrediction model of malignant risk of gastrointestinal stromal tumor based on endoscopic ultrasonography.
Digestive diseases (Basel, Switzerland)Navigating the complex landscape of duodenal gastrointestinal stromal tumor: Innovations in diagnosis and treatment.
Critical reviews in oncology/hematologyDelayed Rupture of Subcapsular Hepatic Gastrointestinal Stromal Tumor Metastasis Following Percutaneous Biopsy.
Journal of vascular and interventional radiology : JVIRDuodenal ampullary neuroendocrine tumor, high risk gastrointestinal stromal tumor, and gastric leiomyoma in a patient with neurofibromatosis type 1: a rare case report and literature review.
Frontiers in oncologyUse of the Alexis® Wound Protector for Exposure and Sterility in Perianal Oncologic Surgery: A Technical Report.
CureusSystematic Screening via WGCNA, Machine Learning, and Validation Identifies C3 and CFD as Prognostically Significant Regulators in GIST Progression.
Molecular and cellular biologyPulmonary Arterial Hypertension and Cancer: Unveiling Parallels in Epidemiology, Clinical Pathways, and Therapeutic Strategies.
Journal of market access & health policyGolgi Retention and Oncogenic Signaling of KIT Tyrosine Kinase in Gastrointestinal Stromal Tumor.
Sub-cellular biochemistryEndoscopic resection of a gastrointestinal stromal tumor using a new mucosal dissection knife in combination with far-view endoscopic submucosal dissection.
EndoscopyBRAF V600E Expression in c-Kit+ Interstitial Cells of Cajal Drives Gastrointestinal Stromal Tumor Formation in Mice.
Cancer research communicationsEndoscopic vs laparoscopic resection for gastric gastrointestinal stromal tumors: Oncological outcomes.
World journal of gastrointestinal oncologyUnicentric Castleman Disease of the Mesentery Mimicking a Gastrointestinal Stromal Tumor: A Case Report.
CureusPeritoneal Sarcomatosis Secondary to a Gastrointestinal Stromal Tumor Treated With a Multimodal Approach: A Case Report.
CureusIncidental finding of gastrointestinal stromal tumor in appendix.
Journal of surgical case reportsIntratumoral and Peritumoral Radiomics Based on Contrast-Enhanced CT Images: Biomarkers to Predict the Risk-Grade of Gastrointestinal Stromal Tumors.
Current medical imagingGastric bronchogenic cyst pooled case analysis: a case report and systematic review.
BMC gastroenterologySurvival analysis and prognostic factors for gastrointestinal and extragastrointestinal stromal tumors: a SEER-based study.
Annals of medicine and surgery (2012)Prediction of Mutations and Outcome in Gastrointestinal Stromal Tumors with Deep Learning: A Multicenter, Multinational Study.
medRxiv : the preprint server for health sciencesGastrointestinal Stromal Tumors: Histopathological Spectrum, Molecular Subtypes, and Implications for Targeted Therapy.
CureusAugmenting CT evaluation of primary small bowel malignancies: The role of cinematic rendering.
Emergency radiologyNovel therapeutic ultrathin endoscope facilitates endoscopic intermuscular dissection for gastrointestinal stromal tumor adjacent to the anus.
EndoscopyThe Successful Treatment of Primary and Recurrent Ruptured Gastric Gastrointestinal Stromal Tumor (GIST) Through Coordinated Surgical Intervention and c-Kit Inhibitor Therapy.
CureusLaparoscopic resection for high-risk gastric gastrointestinal stromal tumors: safety and oncological outcome.
Surgical endoscopyPelvic Gastrointestinal Stromal Tumor (GIST) Mimicking Ovarian Cancer in a Kidney-Liver Transplant Recipient Under Chronic Immunosuppression.
Case reports in oncological medicineSubmucosal tunneling endoscopic resection with bidirectional full-thickness resection of gastrointestinal stromal tumor: a case report.
iGIE : innovation, investigation and insightsLaparoscopic resection for gastric gastrointestinal stromal tumor at the esophagogastric junction: feasibility and long-term results.
Updates in surgeryTwo in one: paraganglioma and gastrointestinal stromal tumor presentation of Carney-Stratakis syndrome.
Polish archives of internal medicineLaparoscopic Resection of a Large Jejunal Diverticulum-Like Gastrointestinal Stromal Tumor: A Case Report.
Surgical case reportsIntra-abdominal Desmoid Tumors Mimicking Gastrointestinal Stromal Tumor (GIST) Recurrence: A Case Report.
CureusRare co-occurrence of gastrointestinal stromal tumors and leiomyomas: A case report and review of the literature.
Experimental and therapeutic medicineSubmucosal colonic fecalith mimicking a submucosal malignant tumor at the anastomotic site after colon cancer: A case report.
Experimental and therapeutic medicineDOG1 Immunohistochemical Expression in Normal and Neoplastic Canine Tissues: Is It Only a Marker for GISTs?
Animals : an open access journal from MDPIClinicopathological features of PDGFRA D842Y-mutant gastrointestinal stromal tumors: insights from four cases.
International cancer conference journalEnhancing gastrointestinal stromal tumor risk stratification: A novel deep learning approach applied to EUS imaging.
Endoscopic ultrasoundA new classification of gastric submucosal tumors under EUS based on blood flow signals.
Endoscopic ultrasoundPrimary Gastrointestinal Stromal Tumor of the Pancreatic Head: A Diagnostic Challenge Mimicking a Neuroendocrine Tumor.
Cureus[Cytoreductive surgery in the management of recurrent or metastatic gastrointestinal stromal tumors: a retrospective analysis from a single-center experience].
Zhonghua wai ke za zhi [Chinese journal of surgery]Gastroduodenal Intussusception With Gastric Outlet Obstruction and Periampullary Compression Due to a Gastrointestinal Stromal Tumor in the Stomach.
The American journal of case reportsAOC3 Loss Promotes Imatinib Resistance in GIST by Stabilizing HK2 and Enhancing H3K18la-Driven Myc Transcription.
Molecular carcinogenesisSynchronous Rectal Adenocarcinoma and Sigmoid Gastrointestinal Stromal Tumor: A Case Report.
Case reports in oncologyAnalysis of Risk Factors for Postoperative Delayed Perforation Following Endoscopic Submucosal Dissection of Gastrointestinal Stromal Tumors.
Surgical laparoscopy, endoscopy & percutaneous techniquesClinicopathologic and molecular spectrum of gastrointestinal stromal tumor (GIST) with NTRK fusion and marked response to larotrectinib in GIST with NTRK fusion: a case report.
Cellular oncology (Dordrecht, Netherlands)Unexpected metachronous multiple primary cancers: pilonidal sinus‑related squamous cell carcinoma and incidentally detected gastric gastrointestinal stromal tumour.
BJR case reportsGastric Heterotopic Pancreas Mimicking A Submucosal Tumor: A Case Report.
Clinical case reports[A Case of Gastric GIST Concomitant with Early Gastric Cancer and Leiomyoma].
Gan to kagaku ryoho. Cancer & chemotherapy[A Case of Intraperitoneal Gastrointestinal Stromal Tumor with Pedicle Torsion Requiring Emergency Surgery].
Gan to kagaku ryoho. Cancer & chemotherapyA case report of jejunal myeloid sarcoma presented with intestinal intussusception in a 19-year-old man: An uncommon presentation of a rare disease.
International journal of surgery case reportsSequential Endoscopy-Contrast-Dnhanced CT Protocol for Rapid Localization of Bleeding Small-Bowel Gastrointestinal Stromal Tumor.
Digestive diseases and sciencesRectal PEComa Mimicking Gastrointestinal Stromal Tumor on Endoscopic Ultrasound.
ACG case reports journalDiagnostic Value of Endoscopic Ultrasound-Guided Tissue Acquisition With Rapid On-Site Evaluation in Small Gastric Subepithelial Lesions.
DEN openThe clinical efficacy and pathological assessment of neoadjuvant imatinib treatment in patients with primary gastrointestinal stromal tumors.
Journal of gastrointestinal oncologyEndoscopic Diagnosis of Gastric Subepithelial Lesions < 20 mm: Current Strategies and Emerging Solutions.
Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy SocietyThe Evolving Role of Second- and Third-Generation Tyrosine Kinase Inhibitors in Gastrointestinal Malignancies: Advances in Targeted Therapy with Sunitinib, Regorafenib, and Avapritinib.
Journal of clinical medicineContrast-Enhanced Harmonic Endoscopic Ultrasonography for Diagnosing Gastric Subepithelial Tumors.
Diagnostics (Basel, Switzerland)A Rare Case of Gastric Glomangioma Mimicking a Gastrointestinal Stromal Tumor (GIST).
CureusAn incidental finding of duodenal gastrointestinal stromal tumor (dGIST): a case report.
Annals of medicine and surgery (2012)An intercostal artery aneurysm rupture in a patient with neurofibromatosis type 1-associated gastrointestinal stromal tumor during sunitinib therapy.
Clinical journal of gastroenterologyA case of Meckel's diverticulum misdiagnosed as gastrointestinal stromal tumor: case report and literature review.
Frontiers in medicineSuccessful preoperative diagnosis and laparoscopic endoscopic cooperative surgery for gastric plexiform fibromyxoma: a case report.
Clinical journal of gastroenterologyA Giant Lower Rectal Gastrointestinal Stromal Tumor Treated with Modified Endoscopic Submucosal Dissection.
Digestive diseases and sciencesHypercalcemia episodes caused by ectopic parathyroid adenoma and subsequent gastrointestinal stromal tumor: A case report and literature review.
Frontiers in oncologyLaparoscopic Wedge Resection of a 6 cm Gastrointestinal Stromal Tumor (GIST) Arising From the Lesser Curvature: A Case Report From Jordan.
CureusA rare entity of esophageal gastrointestinal stromal tumor with literature review.
Journal of cancer research and therapeuticsFive Cases of Hepatic Mesenchymal Tumors Diagnosed by Endoscopic Ultrasound-Guided Tissue Acquisition.
DEN openKi-67 and Tumor Size in Small Bowel Tumors: Findings from an Exploratory Immunohistochemical Analysis.
Life (Basel, Switzerland)Recurrent gastrointestinal stromal tumor with c-KIT double exon mutations: A rare case report.
CytoJournalGastrointestinal stromal tumor liver metastasis rupture following yttrium-90 radioembolization: A previously unreported complication.
Radiology case reportsSubtype classification of gastric spindle cell tumors in whole slide images.
Computers in biology and medicineGastrointestinal stromal tumor of the rectum mimicking a prostatic mass: case report.
Radiology case reportsSporadic Multiple Gastrointestinal Stromal Tumors With Distinct KIT and PDGFRA Mutations in Two Separate Tumors: A Case Report and Literature Review.
International journal of surgical pathologyIntraperitoneal tuberculous abscess mimicking a para-gastric mass: A case report and literature review.
MedicineThe efficacy of immunotherapy in the treatment of tyrosine kinase inhibitor-refractory gastrointestinal stromal tumors: a systematic review and meta-analysis.
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary TractLaparoscopic and Endoscopic Cooperative Surgery Outcomes for Gastric Submucosal Tumors and Our Approach Using the Positional Change Technique.
Indian journal of surgical oncologyThree-dimensional bioprinting of patient-derived Gastrointestinal stromal tumor: a novel platform for precision oncology and drug response profiling.
Journal of nanobiotechnologyPerformance and clinical utility of two targeted multigene panels for GIST molecular characterization.
Scientific reportsTransanal minimally invasive surgery for rectal gastrointestinal stromal tumor using articulated forceps after neoadjuvant chemotherapy with imatinib mesylate.
International cancer conference journalSingle-Stage Non-Exposed Endoscopic Wall-Inversion Surgery and Laparoscopic Pylorus-Preserving Gastrectomy for a Gastric Leiomyoma in the Cardia and Early Gastric Cancer in the Middle Stomach: A Case Report.
Asian journal of endoscopic surgeryRobotic Approach to Multivisceral Resection for Gastrointestinal Stromal Tumor With En Bloc Resection of the Stomach, Distal Pancreas, and Spleen: A Case Report.
CureusSmall bowel GISTs: clinicopathological patterns and the role of inflammatory markers.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologiePrimary extra-gastrointestinal stromal tumor of the gallbladder: A case report.
World journal of gastroenterologyChronic Disseminated Intravascular Coagulation in Patient With Metastatic Gastrointestinal Stromal Tumor: Treating Bleeding With Anticoagulation.
Journal of medical casesMerged gastrointestinal stromal tumor, intestinal obstruction, and perforation in Meckel's diverticulum: Case report.
MedicineMonitoring the plasma concentration of ripretinib and its metabolites in Chinese patients with gastrointestinal stromal tumors in a real-life setting.
CancerLong-term outcomes of ripretinib versus sunitinib in Chinese patients with advanced gastrointestinal stromal tumor: An updated analysis of a phase 2 randomized clinical trial.
CancerDevelopment and validation of a machine-learning-based pathomics nomogram for predicting recurrence of localized primary gastrointestinal stromal tumors after complete surgical resection: A retrospective multicenter study.
CancerDisparities in management guidelines for gastrointestinal stromal tumors: A comparison of recommendations from the Chinese Society of Clinical Oncology, National Comprehensive Cancer Network, and European Society for Medical Oncology.
CancerChinese expert consensus on diagnosis and treatment of small gastrointestinal stromal tumors (2025 edition).
CancerGerm cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report.
Biomedical reports[Esophageal gastrointestinal stromal tumor with MKRN1::BRAF gene fusion: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyThe Rare Upper Thoracic and Cervical Esophageal GIST Resected Through Thoracoscopic Esophageal Mobilization and a Cervical Approach: A Case Report.
Cancer reports (Hoboken, N.J.)Phenotypic Carney-Stratakis syndrome with DIS3L2 variant: a case challenging the current genetic paradigm.
Proceedings (Baylor University. Medical Center)A Prostatic Extra-Gastrointestinal Stromal Tumor Treated by Surgery: A Case Report with 7-Year Follow-Up and Review of Literature.
Archivos espanoles de urologiaA Rare Case of Presumed Insulin-Like Growth Factor 2 (IGF-2)-Mediated Hypoglycemia.
CureusComparative efficacy of neoadjuvant imatinib therapy in gastric versus rectal gastrointestinal stromal tumors: a two-center retrospective cohort study.
BMC gastroenterologyRetroperitoneal cavernous hemangioma: A case report with literature review.
Radiology case reportsRobotic Full-Thickness Resection of a Type IV Gastric Gastrointestinal Stromal Tumor (GIST) Through Organoaxial Gastric Rotation: Technical Description With Video and Operative Management Insights.
CureusPre-emptive purse-string suture for full-thickness resection of a gastrointestinal stromal tumor in the duodenal bulb: a case report.
EndoscopyEndoscopic Resection of an Esophageal Gastrointestinal Stromal Tumor After Neoadjuvant Treatment: A New Paradigm for Minimally Invasive Therapy?
ACG case reports journalAge-dependent diminution of female prognostic advantage in gastrointestinal stromal tumors: a retrospective cohort analysis.
Frontiers in immunologyNF1 Mutated Gastrointestinal Stromal Tumors With Coamplification of MDM2 and MYC.
Genes, chromosomes & cancerAppraising Treatment for Gastrointestinal Stromal Tumors of the Wild-Type Mutation in the Setting of NF1: A Case Report.
International journal of hematology-oncology and stem cell researchFGFR2 fusions as novel oncogenic drivers in gastrointestinal stromal tumors: Two case reports and review of literature.
World journal of gastrointestinal oncologySystematic elucidation and pharmacologic targeting on non-oncogene dependencies in imatinib-resistant gastrointestinal stromal tumor.
bioRxiv : the preprint server for biologySuccinate dehydrogenase deficient GIST: Case series and review of literature from a tertiary care center in India.
Indian journal of cancerSingle Incision Laparoscopic Local Resection for Gastric Gastrointestinal Stromal Tumors Compared to Multiport Laparoscopic Local Resection: A Single-Center Retrospective Study.
Asian journal of endoscopic surgeryIncidental appendiceal neoplasms in a multicenter registry of appendicitis management.
SurgeryEfficacy and safety of pimitespib in gastrointestinal tumors.
Surgery todayA CT-based decision tree model for differentiating sub-3 cm gastric ectopic pancreas from gastrointestinal stromal tumors.
BMC gastroenterologyUltrasonographic Diagnosis of Sigmoid Colon Schwannoma: Report of One Case and Literature Review.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaePrimary hemangioblastoma of rectum: a rare case report and review of literature.
Journal of cancer research and clinical oncologyLocal Excision of a 5-cm Rectal Gastrointestinal Stromal Tumor Using Transanal Minimally Invasive Surgery (TAMIS): A Case Report.
Asian journal of endoscopic surgeryA Large Gastrointestinal Tumor With Cystic Degeneration Initially Mistaken for Gastric Splenosis: A Case Report.
CureusEndoscopic full-thickness resection of a gastrointestinal stromal tumor using a double-endoscope snare technique.
Endoscopy international openGastric Leiomyosarcoma: A Case Report and Literature Review.
CureusAmpullary Gastrointestinal Stromal Tumor (GIST) - A Rare Culprit for Transient Biliary Obstruction.
Digestive diseases and sciencesIatrogenic diaphragmatic hernia - a serious delayed complication: Three cases report and literature review.
MedicineEnhanced resection of exophytic gastric gastrointestinal stromal tumor using traction-assisted subserosal dissection and endoscopic suturing.
EndoscopyRegression of Extensive Keloids During Imatinib Therapy for Gastrointestinal Stromal Tumor.
JAMA dermatologyRadiomics models with baseline MRI and clinical data to predict target therapy response and high-risk mortality in metastatic GIST.
Scientific reportsDevelopment and validation of CT-based nomograms for predicting recurrence and prognosis in gastrointestinal stromal tumor.
Abdominal radiology (New York)Innovative development and validation of a scoring system for predicting electrocoagulation syndrome post-endoscopic submucosal dissection of gastric gastrointestinal stromal tumors.
Surgical endoscopy[Primary extra-gastrointestinal stromal tumor presenting as an isolated mediastinum mass: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyPEComas of the colon and rectum: a case report of a 15-year-old girl and a review of the pertinent literature.
Clinical journal of gastroenterologyA Retrospective Analysis of the Efficacy and Safety of Imatinib for Advanced Gastrointestinal Stromal Tumor in Elderly Patients.
Cancer medicineEvaluation of the Ki-67 Labeling Index as a Prognostic Stratification Factor in Non-High-Risk Gastrointestinal Stromal Tumors.
CureusOptimal Sunitinib Dosing Based on Platelet Count in an Older Patient With Gastrointestinal Stromal Tumor.
In vivo (Athens, Greece)Ruptured Gastrointestinal Stromal Tumor in a 12-Year-Old Child: A Case Report.
CureusGastric Adenocarcinoma Resembling Submucosal Tumor: A Case Report.
The American journal of case reportsMolecular Mechanisms and Clinical Implications of Fibroblast Growth Factor Receptor 2 Signaling in Gastrointestinal Stromal Tumors.
Current issues in molecular biologyNuclear Pleomorphism in Gastrointestinal Stromal Tumors: Insights Beyond Risk Stratification.
CureusQuantitative evaluation of upper gastrointestinal subepithelial lesions using endoscopic ultrasound-guided shear wave elastography.
Nagoya journal of medical scienceGastrointestinal stromal tumor presenting in the pancreas.
Clinics and research in hepatology and gastroenterologyPrimary Localized Peritoneal Malignant Mesothelioma Involving the Stomach and Transverse Colon: A Case Report.
The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chiComparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Cancer scienceCross-sectional imaging features of duodenal obstruction: A case series highlighting etiologic diversity.
Radiology case reportsDelayed Relapse of Gastric Gastrointestinal Stromal Tumor After 17 Years: A Case Report and Review of Surveillance Challenges.
CureusGastric granular cell tumor masquerading as gastrointestinal stromal tumor: a rare concept.
Gastroenterology and hepatology from bed to benchSmall bowel ulcers and bleeding: An overlooked yet critical clinical challenge.
World journal of clinical casesLaparoscopic Endoscopic Cooperative Surgery for Multiple Gastrointestinal Stromal Tumors Associated with Incomplete Carney Triad: A Case Report.
Surgical case reportsColonic Lipoma Mimicking Gastrointestinal Stromal Tumor: A Case Report of a Diagnosis Pitfall.
CureusGastrointestinal stromal tumor causing an eletrocardiogram mimic of cardiomyopathy.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of CardiologyIs lymph node metastasis an advanced event of gastrointestinal stromal tumor?
The oncologistCase Report: Renal metastasis of a gastric gastrointestinal stromal tumor mimicking a primary renal carcinoma.
Frontiers in oncologyPerforated Jejunal Gastrointestinal Stromal Tumor in a Young Male Patient With Acute Peritonitis: A Case Report and Literature Review.
CureusA 20-Year Real-World Study of Small Bowel Cancers: Histologic Subtypes, Clinical Features, and Survival Implications.
Journal of clinical medicineGastric diverticulum misdiagnosed as gastrointestinal stromal tumor: a case description.
Quantitative imaging in medicine and surgeryNeoadjuvant Chemotherapy Followed by Laparoscopic and Endoscopic Cooperative Surgery for Locally Advanced Duodenal Gastrointestinal Stromal Tumor: A Case Report.
Surgical case reportsChilaiditi Syndrome With Colonic Gastrointestinal Stromal Tumor (GIST): An Unusual Overlap.
CureusDurable Response to Pazopanib (Tyrosine Kinase Inhibitor) in a Patient With EWSR1::CREM Gene Fusion Positive Intra-Abdominal Unclassified Epithelioid Sarcoma.
Genes, chromosomes & cancerInfluence of genetic variants of imatinib on pharmacokinetics and recurrence-free survival in postoperative patients with gastrointestinal stromal tumor.
European journal of clinical pharmacology[Small bowel gastrointestinal stromal tumor in a young woman - from onset of symptoms to recovery].
Orvosi hetilapNoninvasive Diagnostic Method for Gastric Subepithelial Tumors Based on Circularity: A Multicenter Prospective Study.
DigestionPlexiform Fibromyxoma of the Gastric Body: A Rare Benign Mesenchymal Tumor in an Unconventional Location.
International journal of surgical pathologyThe predictive value of the systemic inflammation-nutrition index for treatment response and prognosis in patients with locally advanced gastrointestinal stromal tumors receiving neoadjuvant imatinib therapy: a dual-center retrospective cohort study.
Therapeutic advances in medical oncologyGastric endophytic gastrointestinal stromal tumor (GIST) as a rare cause of gastroduodenal intussusception: case report and literature review.
Diagnostic pathologyYttrium-90 Selective Internal Radiotherapy for Gastrointestinal Stromal Tumor With Liver Metastasis: A Case Report and Review.
Cancer innovationIncidental Discovery of a Sigmoid Colon Gastrointestinal Stromal Tumor Mimicking Colitis: A Case Report.
CureusSMARCA4-Deficient Undifferentiated Carcinoma: A Report of 2 Cases.
The American journal of case reports"Ewing's sarcoma of the duodenum: a rare gastrointestinal presentation": case report and review of literature.
World journal of surgical oncologyMyxoid epithelioid smooth muscle tumor with a novel MEF2A::NCOA2 fusion arising in the rectum: case report and literature review.
Virchows Archiv : an international journal of pathologyRectal gastrointestinal stromal tumor with early liver metastasis misdiagnosed as vaginal wall tumor: a rare case report.
Frontiers in oncologyGastrointestinal stromal tumor of the rectum: A case report with emphasis on MRI-pathologic correlation.
Radiology case reportsUtility of inflammatory markers as predictors of recurrence in gastrointestinal stromal tumors: Insights from a nomogram-based approach.
World journal of gastrointestinal oncologyA novel prognostic system for locally advanced gastrointestinal stromal tumors after neoadjuvant imatinib therapy based on the metro-ticket paradigm: a retrospective dual-center study.
Surgical endoscopyShort-tunnel submucosal tunneling endoscopic resection for the removal of a rectal gastrointestinal stromal tumor above the dentate line.
EndoscopyEndoscopic subserosal dissection combined with the pocket-creation method for the treatment of exophytic gastric gastrointestinal stromal tumor.
EndoscopyGastrointestinal Stromal Tumor of the Pancreas With Hepatic Metastasis Presenting as Obstructive Jaundice.
CureusAptamer-based drug delivery for targeted therapy of imatinib-resistant gastrointestinal stromal tumor.
TheranosticsOutcomes of submucosal tunneling endoscopic resection for subepithelial tumors in the upper gastrointestinal tract: experience from the United States.
Gastrointestinal endoscopyImatinib-Induced Myopathy in a Patient With Gastrointestinal Stromal Tumor: A Case Report.
CureusRectal Leiomyosarcoma Treated With Surgery and Adjuvant Radiotherapy: A Case Report With a Brief Review of Radiotherapy Techniques From a Radiation Oncologist's Perspective.
CureusThe feasibility and safety of laparoscopic limited resection for duodenal gastrointestinal stromal tumor: a propensity score-matched analysis.
Surgical endoscopyA Case of Neurofibromatosis Type 1 With Early Gastric Cancer and Multiple Small Bowel Gastrointestinal Stromal Tumors.
The Korean journal of helicobacter and upper gastrointestinal researchLetter Re: Avelumab plus axitinib in patients with advanced gastrointestinal stromal tumor.
European journal of cancer (Oxford, England : 1990)Immunotherapy and Targeted Therapies in Sarcoma: Proposed Synergy with Combination Treatment.
Journal of immunotherapy and precision oncologySolitary Fibrous Tumor of the Stomach: Diagnostic Pitfalls and Clinical Implications.
Surgical case reportsTargeting yes-associated protein to overcome imatinib resistance in gastrointestinal stromal tumor drug-tolerant persister cells.
Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer AssociationAssociações
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Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Tumor gastrointestinal do estroma. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/tumor-gastrointestinal-do-estroma
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Tumor gastrointestinal do estroma
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Alvos terapêuticos
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
