Um tumor de células germinativas que surge em um local do corpo diferente dos testículos ou ovários (por exemplo, no sistema nervoso central, pulmão, mediastino e retroperitônio).
Introdução
O que você precisa saber de cara
Um tumor de células germinativas que surge em um local do corpo diferente dos testículos ou ovários (por exemplo, no sistema nervoso central, pulmão, mediastino e retroperitônio).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 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
1 gene identificado com associação a esta condição.
Demethylates lysine in proteins, such as STAT3 or MDC1 (By similarity) (PubMed:24240613). Demethylates MDC1, thereby promoting MDC1-RNF8 interaction and facilitating RNF8-dependent MDC1 ubiquitination essential for double-strand break (DSB) repair (PubMed:24240613). Demethylation of STAT3 at 'Lys-140' facilitates its interactions with the phosphatase PTPN6 and restrains STAT3 activation (By similarity). It is uncertain whether JMJD1C removes methyl groups from histone proteins as the other JMJD1
Nucleus
Variantes genéticas (ClinVar)
40 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada 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 de células germinativas extragonadal
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
57 ensaios clínicos encontrados.
Publicações mais relevantes
Extracranial, Extragonadal Germ Cell Tumors: A Multicenter Australian Case Series.
To describe the treatment pattern and outcomes for patients with extracranial, extragonadal germ cell tumors (EGCTs). We conducted a retrospective analysis of male patients with EGCT prospectively registered in the Australian GCT clinical registry (iTestis) since its inception in 2018. Demographics, clinicopathologic features, treatment characteristics, and outcomes were recorded. Data were analyzed using descriptive statistics and the Kaplan-Meier method estimates of overall survival (OS). Of 1256 patients in the iTestis registry, 33 (3%) had EGCT including 18 (55%) with mediastinal, 14 (42%) with retroperitoneal, and 1 (3%) with a lung primary. The median age was 31 years (range: 24-38), ECOG performance status was 0-1 in 26 (79%), and 21 (64%) were non-seminoma. Chemotherapy was administered upfront in 27 (82%) patients, upfront surgery in four patients (12%), and treatment was unknown in two (6%) patients. The most common chemotherapy regimen was bleomycin/etoposide/cisplatin (BEP) (n = 20, 74%), followed by etoposide/ifosfamide/cisplatin (VIP) (n = 5, 19%) and EP (n = 2, 7%). Post-chemotherapy surgery was carried out in 16 (59%) patients, and 4 (15%) patients received second-line chemotherapy. At a median follow-up of 22.7 months (range: 0-126), no deaths were observed in individuals with retroperitoneal primary (n = 14), seminoma (n = 12), or International Germ Cell Cancer Collaborative Group (IGCCCG) good (n = 15) and intermediate risk (n = 3) disease. Three deaths occurred in patients with mediastinal non-seminoma. The estimated 24-month OS for mediastinal non-seminoma and IGCCCG poor risk disease was 71% (95% confidence interval [CI]: 27%-94%) and 79% (95% CI: 25%-95%), respectively. Incidence of EGCT in Australia is consistent with published literature. Treatment patterns reflect international practices. Primary mediastinal non-seminoma has the poorest outcomes. Primary retroperitoneal and primary mediastinal seminomas have excellent outcomes.
Minimally Invasive Approach of Bile Duct Stricture after Laparoscopic Hepatectomy.
Extragonadal germ cell tumors in pediatric patients are rare, accounting for approximately 10 to 15% of all germ cell tumors. High-risk chemotherapy followed by surgical resection represents the standard of care. Post-hepatectomy biliary complications, such as hepatic duct stenosis, constitute a relevant clinical challenge. We present the case of a 10-year-old pediatric patient with a retroperitoneal and mediastinal extragonadal germ cell tumor treated with high-risk chemotherapy according to the GALOP 2017 protocol and multiple surgical procedures, including laparoscopic atypical left hepatectomy for residual disease. The patient subsequently developed stenosis of the main hepatic duct. Percutaneous biliary drainage and balloon cholangioplasty were performed, successfully restoring biliary patency and normalizing liver function tests, without immediate complications. Post-hepatectomy biliary complications in pediatric patients, although uncommon, may be related to mechanical trauma or metallic clip placement. Percutaneous management is effective and safe, allowing avoidance of open reintervention. Multidisciplinary planning is essential to optimize outcomes in high-risk pediatric germ cell tumors. Post-hepatectomy biliary stenosis should be considered in pediatric patients presenting with jaundice and cholestasis. Percutaneous management of biliary complications is a safe and effective alternative, highlighting the importance of early intervention and close follow-up to preserve liver function.
Rectal adenocarcinoma with a yolk sac tumor component: A rare case report and review of the literature.
Yolk sac tumor (YST) occurs primarily in the gonads but rarely outside the gonads. They typically arise in the midline location, and there are only a few reports describing the colon and rectum as the primary sites of YST. Additionally, colorectal cancers containing YST-like components are rare, and in other organs, including the stomach, it is more common to describe such lesions as " yolk sac tumor-like carcinoma". Here, we report a case of colorectal adenocarcinoma with a YST-like component arising in the rectum. This is the seventh reported case of colorectal YST-like carcinoma. A 66-year-old man presented to our hospital with the chief complaint of anal bleeding. Colonoscopy revealed a 25 × 20 mm tumor located 5 cm above the anal verge. Biopsy results showed moderately differentiated tubular adenocarcinoma, cT3, cN2b, cM0, and cStage IIIC (UICC 8th edition). Subsequently, a laparoscopic abdominoperineal resection was performed. A histopathological examination of the resected specimen revealed findings of adenocarcinoma and YST-like component. Immunostaining for mismatch repair proteins revealed no abnormalities. The tumor was positive for the KRAS G12S mutation, and negative for the BRAF mutation. The overall diagnosis was adenocarcinoma with a YST-like component, pT3, pN2a, cM0, and pStage IIIB (UICC 8th edition). Six months after the surgery, metastasis was found in the liver, but at the request of the patient and their family, the decision was made not to undergo any aggressive treatment. We describe the clinical and pathological features of colorectal YST-like carcinoma that aid in its accurate diagnosis and provide treatment suggestions.
A rare entity in the retroperitoneum: Case report of a primary seminoma.
Primary retroperitoneal seminoma is an extremely rare extragonadal germ cell tumor. A 61-year-old male was referred following the discovery of a retroperitoneal mass on routine physical examination. Computed tomography and PET-CT revealed a soft-tissue nodule near the left renal hilum, suggestive of a neoplasm. The patient underwent surgical resection, and histopathology confirmed seminoma. Scrotal ultrasound showed no testicular abnormalities, thereby excluding a metastatic origin and confirming the diagnosis of primary retroperitoneal seminoma. This case underscores the importance of considering this rare entity in the differential diagnosis of retroperitoneal masses.
Hepatoduodenal ligament teratoma presenting with fever in a young adult.
Hepatoduodenal ligament teratomas are very rare, and there are fewer than 20 cases reported in the literature. A 22-year-old woman with fever and acute abdominal pain due a mature cystic teratoma in the hepatoduodenal ligament. This occurrence when presented with acute cholangitis was the first case of this rare tumor. Previous cases seen in adults were asymptomatic and were diagnosed incidentally on investigations. The mass was successfully removed operation on this patient without affecting the portal triad structures. This case adds to our knowledge of how these rare tumors may present clinically. It also highlights the relevance of this diagnosis in young adults with acute febrile illness and appropriate imaging characteristics.
Publicações recentes
Extragonadal Primary Mixed Germ Cell Tumor of the Stomach.
Rapidly growing mediastinal mature cystic teratoma with increased FDG uptake: challenging the paradigm of indolent growth.
🥉 Relato de casoSurvival outcomes and prognostic factors of extragonadal germ cell tumors: An institutional experience over a decade.
Minimally Invasive Approach of Bile Duct Stricture after Laparoscopic Hepatectomy.
Extracranial, Extragonadal Germ Cell Tumors: A Multicenter Australian Case Series.
📚 EuropePMC88 artigos no totalmostrando 111
Survival outcomes and prognostic factors of extragonadal germ cell tumors: An institutional experience over a decade.
The Gulf journal of oncologyMinimally Invasive Approach of Bile Duct Stricture after Laparoscopic Hepatectomy.
Journal of laparoendoscopic & advanced surgical techniques. Part AExtracranial, Extragonadal Germ Cell Tumors: A Multicenter Australian Case Series.
Asia-Pacific journal of clinical oncologyRectal adenocarcinoma with a yolk sac tumor component: A rare case report and review of the literature.
International cancer conference journalA rare entity in the retroperitoneum: Case report of a primary seminoma.
Urology case reportsHistopathologic diagnosis of mediastinal seminoma in a low-resource setting: A case report on navigating limited access to molecular testing.
International journal of surgery case reportsHepatoduodenal ligament teratoma presenting with fever in a young adult.
Journal of surgical case reportsExtragonadal yolk sac tumor of the ureter with neuroendocrine differentiation: A case report.
Urology case reportsApplication of Negative Pressure Wound Therapy in Neonatal Bone-Exposed Wounds: Nursing Interventions and Clinical Outcomes.
Nursing in critical careGross hematuria secondary to vesicular varices: an unusual long-term sequela of inferior vena cava ligation and resection case report.
Urology case reportsFetal sacrococcygeal immature teratoma: a case report and a literature review.
BMC pediatricsA endometrial malignant tumor with yolk sac tumor component: a case report and literature review.
Frontiers in oncologyPrimary Mediastinal Germ Cell Tumor With Bone Marrow Infiltration: A Case Report and Literature Review.
Cancer reports (Hoboken, N.J.)Extragonadal Urinary Tract Neoplasms With Yolk Sac Differentiation: Clinical, Histologic, and Molecular Evidence of Derivation From Underlying Urothelial Carcinoma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncPulmonary teratoma masquerading as aspergilloma.
Indian journal of thoracic and cardiovascular surgery[A Case of Metastatic Extragonadal Germ Cell Tumor Treated by Surgical Resection after Chemotherapy and Follow-Up Time : A Case Report].
Hinyokika kiyo. Acta urologica JaponicaPrimary Retroperitoneal Seminoma-An Uncommon Presentation With Significant Implications.
Case reports in surgeryA rare case of huge intracranial yolk sac tumor presenting as an orbital mass in an infant: case report and literature review.
Discover oncologyEarly Outcomes of the Surgical Treatment of Sacrococcygeal Tumors in a Tertiary Level Government Hospital.
Acta medica PhilippinaPrimary mediastinal choriocarcinoma in a woman treated with VIP therapy instead of BEP therapy for the prevention of postoperative acute respiratory distress syndrome.
International cancer conference journalPrimary Nonseminomatous Germ Cell Tumor of Kidney: An Uncommon Renal Neoplasm.
Journal of kidney cancer and VHLDiagnosis and management of a sacrococcygeal teratoma at a tertiary hospital in northern Tanzania: A case report.
International journal of surgery case reportsMediastinal Mature Cystic Teratoma With Intrapulmonary Extension Mimicking a Hydatid Cyst: Advantages of MRI in Diagnostics.
CureusExtragonadal Germ Cell Tumor with Hepatic Infiltration in a Child: Aberrant Somatostatin Receptors and the Diagnostic Conundrum.
Journal of Indian Association of Pediatric SurgeonsSpontaneous rupture‑induced life‑threatening mediastinal mixed germ cell tumor: A case report and therapeutic considerations.
Oncology lettersPrimary Yolk Sac Tumor of the Liver: A Rare Cause of Bile Duct Obstruction.
Case reports in gastrointestinal medicineExtragonadal germ-cell tumor presenting initially as a massive abdominal mass: A case report.
Asian journal of surgeryPulsatile giant sacrococcygeal teratoma appearing like 2nd head.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrimary Undifferentiated Neoplasm of the Left Arm with Characteristics of Extragonadal Germ Cell Tumor and High-Grade Sarcoma.
Clinical oncology, case reportsA Rare Case of Extragonadal Mixed Germ Cell Tumor of the Sacrococcygeal Region with Mature Thymic Tissue in the Teratoma Component.
Journal of Indian Association of Pediatric SurgeonsCritical elements of pediatrics sacrococcygeal germ cell tumor surgery.
Seminars in pediatric surgeryExtragonadal Germ Cell Tumors: A Single Institution Experience with Clinicopathological Correlation.
International journal of surgical pathology[Extragonadal germ cell tumor: A case report and review of the literature].
Zhonghua nan ke xue = National journal of andrologyAnalysis of microsatellite instability (MSI) in pediatric gonadal and extra-gonadal germ cell tumors.
Intractable & rare diseases researchMediastinal seminoma in a pediatric patient managed with multi-modality treatment approach: A case report.
International journal of surgery case reports[A Case of Germ Cell Tumor in which Necrotic Tissue Revealed hCG-Positive in Surgical Specimen of Post-Chemotherapy Retroperitoneal Lymph Node Dissection].
Hinyokika kiyo. Acta urologica JaponicaCase of extragonadal germ cell tumor mimicking left adrenal tumor.
Urology case reportsImmune-related mechanisms and immunotherapy in extragonadal germ cell tumors.
Frontiers in immunology[Burned-out testicular germ cell tumors: a clinicopathological analysis of three cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyA case of mediastinal teratoma with malignant transformation into angiosarcoma and relapse with multiple bone metastases that was cured by a multidisciplinary treatment.
IJU case reportsExtragonadal germ cell tumor: A rare case in dorsal region.
Indian journal of cancerUpper gastrointestinal bleed as the initial presentation of seminoma involving the duodenum in an elderly patient with 9 year follow up: A case report and literature review.
Diagnostic cytopathologyA Long-Term Outcome of the Patients with Sacrococcygeal Teratoma: A Bosnian Cohort.
Turkish archives of pediatricsPostoperative recurrence of mixed extragonadal germ cell tumor in the right shoulder: a case report.
Diagnostic pathologyCase report: A unique case of benign teratoma in the posterior mediastinum associated with anterior meningomyelocele in a one-year-old child.
International journal of surgery case reportsYolk Sac Tumor of the Parotid Gland in a Child and its Differentials.
Journal of Indian Association of Pediatric SurgeonsTeratoma of the Tongue in a Fetus: A Case Report and Review of the Literature.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyEndodermal sinus tumor with pancreatic origin: A case report.
International journal of surgery case reportsA Case of Sex Cord-Stromal Tumor Originating in the Retroperitoneal Space.
CureusPosterior mediastinal teratoma presenting as an abdominal mass in a child: A case report.
Radiology case reportsA 24-Year-Old Man Presenting with Lung Metastases from a Primary Retroperitoneal Extragonadal Choriocarcinoma.
The American journal of case reportsAn Unexpected Occurrence of Malignancy in a Patient After a Fontan Operation.
CureusAn Extremely Rare Case of a Primary Pancreatic Yolk Sac Tumor.
CureusYolk sac tumor presenting as a colonic mass in a post-menopausal woman: A case report.
Gynecologic oncology reportsEarly postoperative complications in pediatric abdominal solid tumor surgery according to Clavian-Dindo classification.
Pediatric surgery internationalExtragonadal mixed germ cell tumor of the seminal vesicle.
Indian journal of urology : IJU : journal of the Urological Society of IndiaRetroperitoneal extragonadal germ cell tumor with duodenal infiltration: A challenging endo-luminal tissue diagnosis.
JGH open : an open access journal of gastroenterology and hepatologyGastric adenocarcinoma with germ cell tumor components: a rare case report.
The Journal of international medical researchCervical Cystic Teratoma: An Unusual Cause of Airway Obstruction in the Pediatric Population.
CureusUniportal video-assisted thoracoscopic surgery for complex mediastinal mature teratoma: A case report.
World journal of clinical cases18F-FDG PET/CT Findings in a Rare Case of Paraneoplastic Vestibulocerebellar Syndrome Associated With Isolated Antiamphiphysin Antibodies.
Clinical nuclear medicineA scoping review on the "burned out" or "burnt out" testicular cancer: When a rare phenomenon deserves more attention.
Critical reviews in oncology/hematologyCutaneous nonseminomatous mixed extragonadal germ cell tumor: a case report.
International journal of dermatologyA presumed extragonadal germ cell tumor that turned out to be a gastric cancer-a case report.
Translational andrology and urologyPleural Effusion: A Rare Presentation of Mature Teratoma in a Young Patient.
CureusExtragonadal germ cell tumor, a report of two cases presenting in the gastrointestinal tract.
Rare tumorsTo Be or Not to Be a Germ Cell: The Extragonadal Germ Cell Tumor Paradigm.
International journal of molecular sciencesLaparoscopic Trachelectomy for Cervix Yolk Sac Tumor in 11-Month-Old Girl: The Youngest Case.
Journal of pediatric and adolescent gynecologyA Case of Primary Mediastinal Seminoma Associated With Testicular Microlithiasis and Liver Injury.
CureusSpontaneous regression of an extragonadal seminomatous germ cell tumor.
Cancer treatment and research communicationsRadiotherapy as a Single Modality in Primary Seminoma of the Prostate.
CureusSacrococcygeal Teratoma : A Tumor at the Center of Embryogenesis.
Journal of Korean Neurosurgical SocietyYolk sac tumor of the endometrium in a post-menopausal woman: Case report and review of the literature.
Gynecologic oncology reportsPrimary Mediastinal Germ Cell Tumors-The University of Western Ontario Experience.
Current oncology (Toronto, Ont.)Mediastinal Germ Cell Tumor with Testicular Microlithiasis.
CureusLate testicular relapse two decades after primary extragonadal germ cell tumor with uncommon metastases: a case report.
Journal of medical case reports[Pathological features of primary extragonadal germ cell tumor of the prostate with small round blue cell morphology].
Zhonghua bing li xue za zhi = Chinese journal of pathology[A Case of Extragonadal Germ Cell Tumor Treated by Induction Therapy with A Reduced Bep Regimen].
Hinyokika kiyo. Acta urologica JaponicaKlinefelter syndrome and germ cell tumors: review of the literature.
International journal of pediatric endocrinologyAn extragonadal germ cell tumor with dermatomyositis: A case report and literature review.
Molecular and clinical oncology[A Case of Metachronous Testicular Tumor Developing Twenty Years after Treatment of Retroperitoneal Extragonadal Germ Cell Tumor].
Hinyokika kiyo. Acta urologica JaponicaNonseminomatous Extragonadal Germ Cell Tumor Presenting As Early Pericardial Tamponade.
CureusIncidentally discovered primary mediastinal germ cell tumor.
JAAPA : official journal of the American Academy of Physician AssistantsPrimary malignant mediastinal germ cell tumors: A single institutional experience.
South Asian journal of cancerRetroperitoneal extragonadal germ cell tumor without distant metastasis: a case report.
International cancer conference journalA synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter`s syndrome.
The Turkish journal of pediatricsAn extragonadal yolk sac tumor presumed to be of postmeiotic germ cell origin by genetic zygosity analysis via single nucleotide polymorphism array.
Genes, chromosomes & cancerPlaying the long surveillance ball game: Metachronous testicular tumor developing after treatment and remission of extragonadal germ cell tumor.
Rare tumorsCase of acute respiratory distress syndrome in a patient with an extragonadal germ cell tumor without lung metastasis in which choriocarcinoma syndrome was suspected.
IJU case reportsPrimary mediastinal germ cell tumors.
Seminars in oncologyJapanese clinical practice guidelines for sacrococcygeal teratoma, 2017.
Pediatrics international : official journal of the Japan Pediatric SocietyPoor prognosis of retroperitoneal mixed extragonadal germ cell tumors in an HIV-infected man with severe immunosuppression and bilateral cryptorchidism: a case report.
BMC cancerPrimary Malignant Thyroid Teratoma: An Institutional Experience.
Thyroid : official journal of the American Thyroid Association[A CASE WITH LATE RECURRENCE OF EXTRAGONADAL GERM CELL TUMOR].
Nihon Hinyokika Gakkai zasshi. The japanese journal of urologyTherapy-related acute myeloid leukemia and myelodysplastic syndrome among refractory germ cell tumor patients.
International journal of urology : official journal of the Japanese Urological AssociationExtragonadal germ cell tumor of the posterior mediastinum in a child complicated with spinal cord compression: a case report.
BMC pediatricsYolk sac tumor in the abdominal wall of an 18-month-old girl: a case report.
Journal of medical case reportsHypertestosteronemia and Infertility from a Mediastinal Extragonadal Germ Cell Tumor.
The American journal of medicineComparison of the clinical features and hematopoietic stem cell transplantation outcomes of mediastinal malignant germ cell tumors with nonmediastinal extragonadal placements.
OncoTargets and therapyKlinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor.
Urology case reportsPrimary Choriocarcinoma of the Bladder: A Case Report and Review of Literature.
Clinical genitourinary cancerDislodgement and gastrointestinal tract penetration of bone cement used for spinal reconstruction after lumbosacral vertebral tumor excision: A case report.
MedicineTesticular Microlithiasis in the Setting of Primary Extragonadal Germ Cell Tumor: A Case Series.
Ultrasound quarterlyRecovery from Choriocarcinoma Syndrome Associated with a Metastatic Extragonadal Germ Cell Tumor Hemorrhage.
Case reports in gastroenterologyModified Facial Translocation Approach in a One-Month Old With a Skullbase Tumor.
The Journal of craniofacial surgeryDesperation surgery for a chemorefractory lung lesion in a patient with an extragonadal germ cell tumor.
International cancer conference journalA clinicopathological study of mediastinal masses operated in a tertiary care hospital in Eastern India in 3 years with special reference to thymoma.
Indian journal of pathology & microbiologyClinical Features and Treatment Outcomes in Patients with Extragonadal Germ Cell Tumors: A Single-center Experience.
Anticancer researchPrimary extragonadal germ cell tumor: A case report on prostate seminoma.
Oncology letters[PRIMARY MEDIASTINAL GERM CELL TUMOR ARISING IN A PATIENT WITH NEUROFIBROMATOSIS TYPE 1].
Nihon Hinyokika Gakkai zasshi. The japanese journal of urology[A case of metachronal testicular tumor eight years after medical treatment of extragonadal germ cell tumor].
Hinyokika kiyo. Acta urologica JaponicaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Extracranial, Extragonadal Germ Cell Tumors: A Multicenter Australian Case Series.
- Minimally Invasive Approach of Bile Duct Stricture after Laparoscopic Hepatectomy.Journal of laparoendoscopic & advanced surgical techniques. Part A· 2026· PMID 41661109mais citado
- Rectal adenocarcinoma with a yolk sac tumor component: A rare case report and review of the literature.
- A rare entity in the retroperitoneum: Case report of a primary seminoma.
- Hepatoduodenal ligament teratoma presenting with fever in a young adult.
- Extragonadal Primary Mixed Germ Cell Tumor of the Stomach.
- Rapidly growing mediastinal mature cystic teratoma with increased FDG uptake: challenging the paradigm of indolent growth.
- Survival outcomes and prognostic factors of extragonadal germ cell tumors: An institutional experience over a decade.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:363579(Orphanet)
- MONDO:0018201(MONDO)
- GARD:9325(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787791(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
