Uma formação em tecidos moles (como músculos, gordura e vasos sanguíneos) composta por células especiais, chamadas epitelioides, que se desenvolvem ao redor dos vasos sanguíneos. Alguns exemplos incluem angiomiolipoma, tumor de células claras "sugar" do pulmão e linfangioleiomiomatose.
Introdução
O que você precisa saber de cara
Uma formação em tecidos moles (como músculos, gordura e vasos sanguíneos) composta por células especiais, chamadas epitelioides, que se desenvolvem ao redor dos vasos sanguíneos. Alguns exemplos incluem angiomiolipoma, tumor de células claras "sugar" do pulmão e linfangioleiomiomatose.
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
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 36 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
2 genes identificados com associação a esta condição.
Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12906785, PubMed:15340059, PubMed:24529379, PubMed:28215400). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a
Lysosome membraneCytoplasm, cytosol
Tuberous sclerosis 1
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:33436626, PubMed:35772404). Within the TSC-TBC complex
Lysosome membraneCytoplasm, cytosol
Tuberous sclerosis 2
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
3,948 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 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 — Neoplasia de células epitelioides perivascular
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
70 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Alternative Lengthening of Telomeres in Malignant Perivascular Epithelioid Cell Neoplasms: Correlation With Molecular Features Including ATRX Gene Mutation Status.
A subset of perivascular epithelioid cell neoplasms (PEComas) is histologically malignant and at high risk for metastasis, and there is limited literature available on the genetic features of these lesions. In addition to driver alterations in the tuberous sclerosis complex/mammalian target of rapamycin pathway or TFE3 fusions, recurrent ATRX mutations have been identified in malignant PEComas. ATRX mutations have been tightly associated with the alternative lengthening of telomeres (ALT) phenotype in a variety of other tumor types. Whether malignant PEComas-regardless of ATRX mutational status-harbor the ALT phenotype has not been characterized. We conducted immunohistochemistry (IHC), next-generation sequencing (NGS), and telomere-specific fluorescence in situ hybridization (FISH) on a cohort of 32 malignant PEComas to evaluate for the ALT phenotype and to correlate with underlying genomic features. TSC1/2/mTOR/RICTOR mutations or TFE3 translocations were detected in 16 of 31 (52%) cases by NGS. Recurrent ATRX alterations were identified in 10 (32%) cases. Sixteen cases underwent ALT FISH, 8 of which harbored ATRX alterations by NGS and/or ATRX loss based on IHC, and 8 cases without detectable ATRX alterations by NGS or loss based on IHC. Twelve (75%) of these 16 cases demonstrated the ALT phenotype by FISH. All 8 (100%) cases with ATRX mutations were ALT positive by FISH. In 8 (50%) cases without ATRX alterations based on NGS, 4 cases demonstrated ALT by FISH. Of these 4 ALT-positive cases lacking ATRX genomic alterations, IHC revealed ATRX protein loss in 1 case. Overall, ATRX alterations were identified in 75% of ALT-positive tumors. Our study provides the first correlation between ALT and genomic features of malignant PEComas, demonstrating that ATRX alterations invariably predict ALT, but that a subset of tumors without mutations in known ALT suppressor genes also activate ALT. These findings confirm that the association between ATRX alterations and ALT observed in other tumor types applies to PEComas and indicates that in a subset of cases, ALT may be activated by ATRX-independent mechanisms.
Renal epithelioid angiomyolipoma: A multi-institutional, international cohort study with emphasis on clinicopathologic prognostic indicators.
Renal angiomyolipoma (AML) is a benign perivascular epithelioid cell neoplasm that is often associated with tuberous sclerosis complex (TSC). Epithelioid AML (eAML), a very rare and potentially malignant variant, can be challenging to radiologically differentiate from benign AML and other renal tumors. Adverse histological features have previously been associated to poorer oncological outcomes. This study aimed to characterize this rare disease entity and validate previously reported adverse prognostic factors. This multicenter, retrospective cohort study analyzed 76 patients diagnosed with eAML between 2001 and 2024 across 15 participating centers. Inclusion criteria were histological diagnosis of eAML with negative cytokeratin markers and positive melanocytic markers. Patients were stratified according to previously described adverse pathological features. A total of 76 patients were studied. Most were female (70%), with a median age of 48 years and, 19 patients had TSC. Median tumor size was 45 mm, with a rate of atypical epithelioid cells >70% in 26 (34.2%) patients. According to the Nese's and Brimo's classifications, 4% and 14% of patients were at high risk, respectively. During a median follow- up of 30-months, 5 (6.7 %) patients developed metastases, and 4 (5.3 %) died. At univariable analysis, the number of adverse pathological risk factors, according to both classifications, was significantly associated with worse metastasis free survival (MFS) and cancer specific survival (CSS). Due to the low number of events, a multivariable analysis was not carried out. eAML is extremely rare, and primarily affects middle-aged women. This cohort validated previously described pathological risk factors for worse prognosis, suggesting that patients with multiple adverse features may require more intensive follow-up.
Perivascular Epithelioid Cell Neoplasm of the Uterus: A Case Report.
Perivascular epithelioid cell neoplasms (PEComas) represent a rare category of mesenchymal tumors, with the gastrointestinal and gynecological systems being the most frequently affected sites. A 46-year-old patient was referred to our clinic due to prolonged menstrual bleeding, without additional symptoms. Histopathological analysis of the specimens collected through exploratory curettage demonstrated the presence of uterine PEComa, characterized by positive immunohistochemical markers including HMB-45, TFE3, Cathepsin K, and ER. The patient underwent laparoscopic hysterectomy with bilateral adnexectomy. No recurrence of the disease was observed during the subsequent examinations. This case underscores a common diagnostic pitfall: the absence of a distinct mass on imaging. It highlights that a PEComa can present with only non-specific endometrial thickening, making preoperative diagnosis exceptionally challenging and reliant on histopathology. Laparoscopic surgery in our case provided the patient with quick recovery and a less invasive approach with satisfying results and the absence of recurrent disease during a one-year follow-up period. Future multicenter studies should facilitate a deeper comprehension and undoubtedly lead to a more effective management of a rare and enigmatic condition that is uterine PEComa.
Uterine Broad Ligament Perivascular Epithelioid Cell Tumors (PEComa): A Case Report with 1-Year Follow-Up.
<p> Introduction: This article presents a case of a patient with a broad ligament perivascular epithelioid cell tumor (PEComa), focusing on the analysis of its imaging features in CT and MRI to enhance understanding and awareness of this rare tumor. </p> <p> Case Presentation: This article reports a case of a 27-year-old married woman who was found to have a pelvic mass two years ago. After detailed examination at our hospital, imaging studies, including enhanced CT and MRI, revealed a cystic-solid lesion in the left adnexal area, with preoperative considerations of ovarian cystadenoma or uterine leiomyoma. She was referred to a specialized obstetrics and gynecology hospital for surgery, and the postoperative pathology was diagnosed as PEComa. She has been undergoing regular follow-up at our hospital post-surgery. One year after the operation, her laboratory tests showed no significant abnormalities, and imaging studies did not reveal any signs of metastasis. </p> <p> Conclusion: Uterine broad ligament PEComa is a rare tumor, and accurate imaging features and classification criteria can aid in improving preoperative diagnosis. A deeper understanding of the clinical and imaging characteristics of this rare disease is significant for enhancing diagnostic accuracy and treatment outcomes. </p>.
A perivascular epithelioid cell neoplasm of the bladder diagnosed after six years: A case report.
Perivascular epithelioid cell neoplasm (PEComa) is a rare mesenchymal-derived tumor with specific histological and immunohistochemical manifestations. Given the rarity of bladder PEComa, standardized diagnostic and therapeutic protocols have yet to be established. This article presents a case of bladder PEComa that was ultimately diagnosed after a six-year delay and reviews recent studies to improve clinicians' understanding of this tumor and minimize the risk of misdiagnosis.
Publicações recentes
Alternative Lengthening of Telomeres in Malignant Perivascular Epithelioid Cell Neoplasms: Correlation With Molecular Features Including ATRX Gene Mutation Status.
Perivascular Epithelioid Cell Neoplasm of the Uterus: A Case Report.
🥉 Relato de casoRenal epithelioid angiomyolipoma: A multi-institutional, international cohort study with emphasis on clinicopathologic prognostic indicators.
Uterine Broad Ligament Perivascular Epithelioid Cell Tumors (PEComa): A Case Report with 1-Year Follow-Up.
A perivascular epithelioid cell neoplasm of the bladder diagnosed after six years: A case report.
📚 EuropePMC57 artigos no totalmostrando 73
Alternative Lengthening of Telomeres in Malignant Perivascular Epithelioid Cell Neoplasms: Correlation With Molecular Features Including ATRX Gene Mutation Status.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncPerivascular Epithelioid Cell Neoplasm of the Uterus: A Case Report.
The journal of obstetrics and gynaecology researchRenal epithelioid angiomyolipoma: A multi-institutional, international cohort study with emphasis on clinicopathologic prognostic indicators.
Urologic oncologyUterine Broad Ligament Perivascular Epithelioid Cell Tumors (PEComa): A Case Report with 1-Year Follow-Up.
Current medical imagingA perivascular epithelioid cell neoplasm of the bladder diagnosed after six years: A case report.
Urology case reportsMalignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus: A Rare Type of Mesenchymal Tumors and a Management Challenge.
CancersPerivascular epithelioid cell neoplasm of the bladder with peritoneal metastasis.
The Canadian journal of urologyTFE3-rearranged ossifying fibromyxoid tumors are uniquely negative for glycoprotein non-metastatic melanoma protein B: A study of 13 TFE3-rearranged mesenchymal tumors.
Human pathologyA case report and literature review: leiomyosarcoma or perivascular epithelioid cell neoplasm?
Frontiers in oncologyPerivascular Epithelial Cell Tumor of the Stomach Diagnosed Preoperatively by Endoscopic Ultrasound-Guided Fine-Needle Aspiration.
Current medical imagingSigmoid Colon Angiomyolipoma as a Culprit for Intermittent Constipation and Hematochezia.
ACG case reports journalPerivascular epithelioid cell neoplasm (PEComa) of the urinary bladder presenting as urinary tract infection in a young woman.
Urology case reportsAccurate prognostic core for localized perivascular epithelioid cell neoplasm.
CancerPerivascular epithelioid cell neoplasm of lung.
ThoraxPerivascular epithelioid cell neoplasm (PEComa) harboring TFE3 gene rearrangements in a patient with Lynch syndrome.
Gastroenterologia y hepatologiaSystematic analysis of perivascular epithelioid cell neoplasms in the female reproductive tract: a comprehensive review.
Future oncology (London, England)Bladder perivascular epithelioid cell neoplasm: Review on clinical features of this rare tumor.
Urology annalsEvaluation of TRIM63 RNA in situ hybridization (RNA-ISH) as a potential biomarker for alveolar soft-part sarcoma (ASPS).
Medical oncology (Northwood, London, England)18 F-FAPI for Imaging Metastatic Perivascular Epithelioid Cell Neoplasm.
Clinical nuclear medicineClinicopathological features of two ultra-rare cases of malignant perivascular epithelioid cell tumors (PEComas) involving the uterus with recent updates.
Indian journal of pathology & microbiologyEpithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report.
Diagnostic pathologyHepatic perivascular epithelioid cell neoplasm in a 58-year-old woman.
Polish archives of internal medicineHepatic angiomyolipoma, misdiagnosed as hepatocellular carcinoma.
Journal of surgical case reportsComparison of 18 F-FDG and 68 Ga-FAPI PET/CT in a Patient With Hepatic Perivascular Epithelioid Cell Neoplasm.
Clinical nuclear medicineMalignant Perivascular Epithelioid Cell Neoplasm of Left Kidney Treated With Targeted Therapy: A Rare Case Report.
CureusAngiomyolipoma of Uterine Cervix: Report of a Rare Case.
CureusAnti-PD-1 immunotherapy combined with stereotactic body radiation therapy and GM-CSF for the treatment of advanced malignant PEComa: A case report.
Frontiers in oncologyRETROPERITONEAL PERIVASCULAR EPITHELIOID CELL NEOPLASM (PECOMA) RESPONSE TO MTOR KINASE INHIBITION. A CASE REPORT WITH LITERATURE REVIEW.
Georgian medical newsA Case of Uterine Lymphangioleiomyomatosis Complicated by Tuberous Sclerosis Complex.
Case reports in obstetrics and gynecologyRapidly Progressive Malignant Pelvic Perivascular Epithelioid Cell Neoplasm (PEComa) Associated with Eggerthella lenta Bloodstream Infection.
Annals of geriatric medicine and researchPrimary retroperitoneal PEComa: an incidental finding.
BMJ case reportsCytopathology of rare gastric mesenchymal neoplasms: A series of 25 cases and review of literature.
Cytopathology : official journal of the British Society for Clinical CytologyConjunctival Perivascular Epithelioid Cell Neoplasm With RBM10-TFE3 Fusion Presenting as Recurrent Subconjunctival Hemorrhage.
Ophthalmic plastic and reconstructive surgeryPerivascular epithelioid cell tumour-mimicking retroperitoneal leiomyosarcoma.
BMJ case reportsDiagnosis and treatment of urachal perivascular epithelioid cell neoplasm: A rare case report.
Asian journal of surgeryDifferentiating renal epithelioid angiomyolipoma from clear cell carcinoma: using a radiomics model combined with CT imaging characteristics.
Abdominal radiology (New York)A Rare Case of a Translocation-Associated Perivascular Epithelioid Cell Neoplasm (PEComa).
Case reports in pediatricsIncidental superficial soft tissue epithelioid angioleiomyoma.
Journal of cutaneous pathologyNevus, melanoma, or something else? Mesenchymal neoplasms with melanocytic differentiation.
Journal of cutaneous pathologySingle-center Experience in the Diagnosis and Treatment of Hepatic Perivascular Epithelioid Cell Neoplasm.
Journal of clinical and translational hepatologyA review of neoplasms with MITF/MiT family translocations.
Histology and histopathologyCase Report: A Rare Case of a Ventricular Perivascular Epithelioid Cell Tumor With Histologic Characteristics That Resembled a Primary Cardiac Rhabdomyoma.
Frontiers in cardiovascular medicineMalignant perivascular epithelioid cell neoplasm in the liver: report of a pediatric case.
Surgical case reportsPericardial Perivascular Epithelioid Cell Neoplasm.
Radiology. Cardiothoracic imagingBladder perivascular epithelioid cell neoplasm: The importance of immunohistochemistry in the diagnosis of an unusual neoplasm.
SAGE open medical case reportsA Retrospective Case Study of 13 Uterine Perivascular Epithelioid Cell Neoplasm (PEComa) Patients.
OncoTargets and therapyChylous Ascites as a Presentation of Lymphangioleiomyomatosis.
ACG case reports journalDiagnostic dilemma for an adrenal mass: perivascular epithelioid cell neoplasm versus adrenocortical carcinoma.
ANZ journal of surgeryTFE3 Gene Rearrangement in Perivascular Epithelioid Cell Neoplasm (PEComa) of the Genitourinary Tract.
Clinical genitourinary cancerEndometrial polyp-like perivascular epithelioid cell neoplasm associated with TFE3 translocation: report of one case.
International journal of clinical and experimental pathologyHepatic PEcoma: an unusual tumor in an infrequent location.
Cirugia y cirujanosPrimary hepatic perivascular epithelioid cell neoplasm (PEComa) with fever in a 53-year-old man.
Postgraduate medical journalMalignant Epithelioid Angiomyolipoma of the Kidney (Malignant Perivascular Epithelioid Cell Neoplasm).
Mayo Clinic proceedingsPerivascular Epithelioid Cell Tumor of the Urinary Bladder: A Systematic Review.
International journal of surgical pathologyRenal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH).
Cancer biology & therapyParietal Pleura-Based Malignant Perivascular Epithelioid Cell Neoplasm Protruding Into Serous Cavity: A Hitherto Unrecognized Occurrence.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung CancerFeasibility of laparoscopic isolated caudate lobe resection for rare hepatic mesenchymal neoplasms.
World journal of clinical casesRupture of perivascular epithelioid cell neoplasm at 34 weeks' gestation: A nonendometriosis case of spontaneous hemoperitoneum in pregnancy.
The journal of obstetrics and gynaecology research[Clinical analysis of hepatic perivascular epithelioid cell neoplasm: a report of eleven cases].
Zhonghua yi xue za zhiInvagination as Manifestation of a Perivascular Epithelioid Cell Neoplasm (PEComa) of the Colon.
The American journal of gastroenterologyTFE3-Expressing Epithelioid Rich Perivascular Epithelioid Cell Neoplasm (PEComa) of the Bladder with Unusual Benign Course.
Annals of clinical and laboratory sciencePrimary malignant perivascular epithelioid cell neoplasm (PEComa) of the bone mimicking granular cell tumor in core biopsy: A case report and literature review.
Oncology lettersHepatic perivascular epithelioid cell neoplasm: A clinical and pathological experience in diagnosis and treatment.
Molecular and clinical oncologyMalignant melanocytic neoplasm of pancreas with liver metastasis: Is it malignant melanoma or clear cell sarcoma?
Indian journal of pathology & microbiologyTFE3-Expressing Perivascular Epithelioid Cell Neoplasm (PEComa) of the Sella Turcica.
Endocrine pathologyMalignant Perivascular Epithelioid Cell Neoplasm (PEComa) of the Pelvis: A Case Report.
Urology case reportsHepatic multiple perivascular epithelioid cell neoplasm: A case report and literature review.
Molecular and clinical oncology[Renal cell carcinoma with t(6;11)(p21.2;q13)/MALAT1-TFEB fusion: a clinical and pathological analysis].
Zhonghua bing li xue za zhi = Chinese journal of pathologyRenal Angiomyolipoma With Sarcoid Granulomas: Report of a Unique Case.
International journal of surgical pathologyMalignant TFE3-rearranged perivascular epithelioid cell neoplasm (PEComa) presenting as a subcutaneous mass.
The British journal of dermatologyPrimary retroperitoneal perivascular epithelioid cell neoplasm: A case report.
Oncology lettersMalignant perivascular epithelioid cell neoplasm of the mediastinum and the lung: one case report.
MedicinePerivascular epithelioid cell neoplasm (PEComa) of the uterus: A systematic review.
International journal of surgery (London, England)Associações
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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.
- Alternative Lengthening of Telomeres in Malignant Perivascular Epithelioid Cell Neoplasms: Correlation With Molecular Features Including ATRX Gene Mutation Status.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc· 2026· PMID 41577032mais citado
- Renal epithelioid angiomyolipoma: A multi-institutional, international cohort study with emphasis on clinicopathologic prognostic indicators.
- Perivascular Epithelioid Cell Neoplasm of the Uterus: A Case Report.
- Uterine Broad Ligament Perivascular Epithelioid Cell Tumors (PEComa): A Case Report with 1-Year Follow-Up.
- A perivascular epithelioid cell neoplasm of the bladder diagnosed after six years: A case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:595133(Orphanet)
- MONDO:0006359(MONDO)
- GARD:22383(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
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.
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