Neoplasia maligna que surge dos vasos sanguíneos.
Introdução
O que você precisa saber de cara
Neoplasia maligna que surge dos vasos sanguíneos.
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 30 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 56 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
10 genes identificados com associação a esta condição.
Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop
CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells
Cell membrane
Carney complex 1
CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.
Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein
CytoplasmNucleus
E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby restricting the size of the intestinal stem cell zone (PubMed:22575959). Along with RSPO2 and RNF43, constitutes a master s
Cell membrane
Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:11118213, PubMed:18227151, PubMed:23911299). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, whi
NucleusCytoplasmCell membraneCell junction, tight junction
Transcriptional regulator with dual roles as a coactivator and corepressor. Critical downstream regulatory target in the Hippo signaling pathway, crucial for organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:17974916, PubMed:18280240, PubMed:18579750, PubMed:21364637, PubMed:30447097). The Hippo signaling pathway core involves a kinase cascade featuring STK3/MST2 and STK4/MST1, along with its regulatory partner SAV1, which phosphorylates and ac
CytoplasmNucleusCell junction, tight junctionCell membrane
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest intellectual disability of varying degree and/or sensorineural, mid-frequency hearing loss.
Transcriptional activator
NucleusCytoplasm
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.
Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (PubMed:24448649). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the pr
Cytoplasm, cytosolNucleusLysosome membrane
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females.
Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-de
Nucleus, nucleolusNucleus, nucleoplasmNucleusChromosome, telomereCytoplasmNucleus, PML body
Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:189574
CytoplasmNucleusCytoplasm, cytoskeletonCell junction, adherens junctionCell junctionCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindle poleSynapseCytoplasm, cytoskeleton, cilium basal body
Colorectal cancer
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Medicamentos e terapias
Mecanismo: Interferon alpha/beta receptor agonist
Mecanismo: DNA topoisomerase II alpha inhibitor
Mecanismo: Retinoid receptor agonist
Mecanismo: DNA topoisomerase II alpha inhibitor
Mecanismo: Tubulin inhibitor
Mecanismo: Tubulin inhibitor
Mecanismo: DNA topoisomerase II alpha inhibitor
Variantes genéticas (ClinVar)
2,460 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
101 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 vascular maligno
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Outros ensaios clínicos
Publicações mais relevantes
Clinical and pathological analysis of pulmonary epithelioid vascular endothelial tumor.
Pulmonary epithelioid hemangioendothelioma (PEHE) is a rare, low-grade malignant vascular tumor with nonspecific clinical and imaging features. Diagnosis remains challenging, particularly in intraoperative frozen sections and biopsy specimens, and relies on characteristic histopathological morphology and immunohistochemical findings, supplemented by molecular genetic testing when necessary. We report two cases of PEHE: a 72-year-old asymptomatic male with multiple pulmonary nodules detected incidentally on CT, initially diagnosed as "malignant tumor, likely metastatic" by frozen section during wedge resection but later confirmed as PEHE on paraffin pathology; and a 53-year-old female presenting with cough, sputum, dyspnea, and chest pain, whose CT showed scattered ground-glass and solid nodules, initially misdiagnosed as non-small cell carcinoma with nodal metastasis via percutaneous biopsy but ultimately confirmed as PEHE through immunohistochemistry (positive CD34/CD31/ERG). These cases underscore the diagnostic pitfalls of PEHE and aim to enhance awareness among clinicians and pathologists. A comprehensive review of current literature is also provided.
Diagnostic Utility of Contrast-Enhanced Ultrasound and Multimodal Imaging in Splenic Angiosarcoma: A Pathologically Confirmed Case Report.
Splenic angiosarcoma is an extremely rare and highly aggressive malignant vascular tumor with nonspecific clinical manifestations and variable imaging appearances. We report a case of a middle-aged male presenting with progressive upper abdominal discomfort and a large splenic mass accompanied by cardiophrenic lymphadenopathy and peritoneal involvement. Ultrasound, contrast-enhanced ultrasound (CEUS), computed tomography (CT), and magnetic resonance imaging (MRI) demonstrated aggressive imaging features highly suggestive of malignancy. Ultrasound-guided biopsies of both the splenic lesion and cardiophrenic lymph nodes revealed malignant vascular proliferation with spindle and epithelioid morphology, a high Ki-67 proliferation index, and diffuse endothelial marker positivity, confirming the diagnosis of splenic angiosarcoma. This case highlights the diagnostic value of CEUS combined with multimodal imaging in the early recognition and accurate diagnosis of malignant splenic vascular tumors.
Diagnosis, treatment, and prognosis of scalp angiosarcoma: A case report.
Scalp angiosarcoma is a rare malignant vascular tumor with the characteristics of occult early symptoms, no specificity, a high misdiagnosis rate, strong invasion, and poor prognosis. The 5-year survival rate is <30%. The accumulation of rare cases is of great significance for optimizing diagnosis and treatment. A 78-year-old man presented with a dark-brown nodule on the top of the head 2 months ago, which progressively enlarged with ulceration, erosion, and easy bleeding. Topical antibiotic therapy was ineffective. Imaging showed a mass with an unclear inferior boundary and rich blood flow (without bone destruction). Dermoscopy showed invasive growth with abnormal blood vessels. The diagnosis was confirmed by pathology and immunohistochemistry (positive for CD31, CD34, and ERG). Angiosarcoma of the scalp was confirmed based on skin pathology and immunohistochemical results. The scalp tumor was surgically removed under general anesthesia, and skin from the thigh was taken for transplantation. Skin necrosis and skull exposure in the graft area after the operation. The patient refused further repair treatment, imaging evaluation, radiotherapy, and chemotherapy, and died of massive hemoptysis 5 months after surgery. Early identification and standardized comprehensive treatment are the core to improving prognosis. In clinical practice, it is necessary to accumulate rare cases, improve disease cognition, optimize diagnosis and treatment processes, and strengthen treatment compliance management to reduce mortality and improve quality of life.
Canine Cardiac and Cardiovascular Pathology: Four Major Life-Threatening Non-Degenerative, Non-Hereditary Conditions.
Cardiovascular diseases in dogs have diverse causes and may progress rapidly to life-threatening complications. This review outlines the relevant pathological conditions involving the cardiovascular system in dogs, especially the myocardium, including myocarditis caused by canine parvovirus (CPV-2), heartworm disease (Dirofilaria immitis), hemangiosarcoma, and polyarteritis nodosa (PAN). CPV-2 affects the myocardium of puppies during the early weeks of life, leading to necrosis, fibrosis, and congestive heart failure. Heartworm disease is caused by adult D. immitis residing mainly in the pulmonary arteries, inducing pulmonary hypertension, right ventricular overload, and vascular damage, with the severity being related to the worm burden and duration of infestation. Hemangiosarcoma is a malignant vascular tumor, most frequently originating in the spleen or right atrium, often diagnosed at an advanced stage, with widespread metastases. Polyarteritis nodosa in dogs is a necrotizing, systemic vasculitis of medium-sized arteries that may affect the coronary arteries of the heart. Its pathogenesis is still unclear, though an immune-mediated mechanism is suspected. By presenting these lesions, the review underscores the many factors that can trigger cardiovascular diseases in dogs, as well as the clinical significance and the need for further research into their pathogenesis and treatment.
A review of cutaneous angiosarcoma: epidemiology, diagnosis, prognosis, and treatment options.
Cutaneous angiosarcoma (cAS) is a rare and aggressive malignant vascular tumor that arises from endothelial cells lining the blood vessels. It can occur in any part of the body, but most commonly, it affects the skin and soft tissues. cAS has a poor prognosis with a 5-year survival rate of only 9%. This review summarizes the current understanding of angiosarcoma pathogenesis, clinical presentation, diagnosis, and treatment approaches. Recent advances in molecular characterization have identified recurrent genetic alterations that may lead to the development of novel targeted therapies. Multidisciplinary management combining surgery, radiation, and systemic therapy remains the mainstay of treatment; however, outcomes remain poor for metastatic disease. Ongoing research into the molecular drivers of cAS and immunotherapeutic approaches offers hope for improving the outcomes of this challenging malignancy. This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the treatment of childhood vascular tumors. It is intended as a resource to inform and assist clinicians in the care of their patients. It does not provide formal guidelines or recommendations for making health care decisions. This summary is reviewed regularly and updated as necessary by the PDQ Pediatric Treatment Editorial Board, which is editorially independent of the National Cancer Institute (NCI). The summary reflects an independent review of the literature and does not represent a policy statement of NCI or the National Institutes of Health (NIH). This PDQ cancer information summary has current information about the treatment of childhood vascular tumors. It is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care. Editorial Boards write the PDQ cancer information summaries and keep them up to date. These Boards are made up of experts in cancer treatment and other specialties related to cancer. The summaries are reviewed regularly and changes are made when there is new information. The date on each summary ("Date Last Modified") is the date of the most recent change. The information in this patient summary was taken from the health professional version, which is reviewed regularly and updated as needed, by the PDQ Pediatric Treatment Editorial Board.
Publicações recentes
Clinical and pathological analysis of pulmonary epithelioid vascular endothelial tumor.
Diagnostic Utility of Contrast-Enhanced Ultrasound and Multimodal Imaging in Splenic Angiosarcoma: A Pathologically Confirmed Case Report.
Diagnosis, treatment, and prognosis of scalp angiosarcoma: A case report.
Canine Cardiac and Cardiovascular Pathology: Four Major Life-Threatening Non-Degenerative, Non-Hereditary Conditions.
Radiation-induced angiosarcoma of the breast - experience from clinical practice.
📚 EuropePMC6 artigos no totalmostrando 89
Clinical and pathological analysis of pulmonary epithelioid vascular endothelial tumor.
Open life sciencesDiagnostic Utility of Contrast-Enhanced Ultrasound and Multimodal Imaging in Splenic Angiosarcoma: A Pathologically Confirmed Case Report.
Journal of clinical ultrasound : JCUDiagnosis, treatment, and prognosis of scalp angiosarcoma: A case report.
MedicineCanine Cardiac and Cardiovascular Pathology: Four Major Life-Threatening Non-Degenerative, Non-Hereditary Conditions.
Veterinary sciencesRadiation-induced angiosarcoma of the breast - experience from clinical practice.
Ceska gynekologieMetastatic colon involvement from primary adrenal gland angiosarcoma: a case report.
Journal of medical case reportsThyroid Angiosarcoma : An unusual and challenging case report at B.P. Koirala Institute of Health Sciences.
Kathmandu University medical journal (KUMJ)A review of cutaneous angiosarcoma: epidemiology, diagnosis, prognosis, and treatment options.
Japanese journal of clinical oncologyCAMTA1-immunonegative epithelioid hemangioendotheliomas of the liver: a clinicopathological and molecular analysis of seven cases.
Frontiers in oncologyEpithelioid Angiosarcoma of the Urinary Bladder After Brachytherapy for Prostatic Carcinoma: A Case Report and Literature Review.
CureusRare cancer with primary pleural epithelioid hemangioendothelioma diagnosed by thoracoscopic biopsy achieving disease control after 16 months: case report and literature review.
Frontiers in pharmacologyThe challenges of hepatic epithelioid hemangioendothelioma: the diagnosis and current treatments of a problematic tumor.
Orphanet journal of rare diseasesComprehensive evaluation of clinical outcomes in hepatic epithelioid hemangioendothelioma subsets: insights from SEER Database and departmental cohort analysis.
Frontiers in immunologyRole of the Hippo-YAP/TAZ Pathway in Epithelioid Hemangioendothelioma and its Potential as a Therapeutic Target.
Anticancer researchBilateral pneumothorax unveiling cystic pulmonary metastases from facial angiosarcoma: A case report.
Radiology case reportsKaposi Sarcoma in Two Lung Transplant Recipients: A Single-Center Experience.
Transplantation proceedingsA case report of parotid gland epithelioid hemangioendothelioma.
Frontiers in surgerySinonasal Angiomatous Polyp: A Case Report and Review of Literature.
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Indian journal of pathology & microbiologyMyeloid sarcoma with RBM15::MRTFA (MKL1) mimicking vascular neoplasm.
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Iranian journal of pathologyNOTCH3 missense mutations as predictor of long-term response to gemcitabine in a patient with epithelioid hemangioendothelioma.
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The American Journal of dermatopathologyWhole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion.
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American journal of translational researchCytologic features and immunohistochemical findings of epithelioid hemangioendothelioma (EHE) in effusion: A case series.
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The American journal of surgical pathologyA case of exogenous corticosteroid-induced Kaposi's sarcoma that developed after a cure of endogenous hypercortisolism.
International journal of clinical pharmacyFour-year natural clinical course of pulmonary epithelioid hemangioendothelioma without therapy.
Thoracic cancerHepatic epithelioid hemangioendothelioma metastasized to the peritoneum, omentum and mesentery: a case report.
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Head and neck pathologyFluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography in the detection of primary pulmonary angiosarcomas.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaCutaneous epithelioid hemangioendothelioma on the sole of a child.
Pediatric dermatologyHemangiopericytoma of the breast: a case report and a review of the literature.
Case reports in oncological medicineAssociações
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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.
- Clinical and pathological analysis of pulmonary epithelioid vascular endothelial tumor.
- Diagnostic Utility of Contrast-Enhanced Ultrasound and Multimodal Imaging in Splenic Angiosarcoma: A Pathologically Confirmed Case Report.
- Diagnosis, treatment, and prognosis of scalp angiosarcoma: A case report.
- Canine Cardiac and Cardiovascular Pathology: Four Major Life-Threatening Non-Degenerative, Non-Hereditary Conditions.
- A review of cutaneous angiosarcoma: epidemiology, diagnosis, prognosis, and treatment options.
- Radiation-induced angiosarcoma of the breast - experience from clinical practice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:673466(Orphanet)
- MONDO:0002095(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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
