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1.
World J Gastroenterol ; 30(18): 2374-2378, 2024 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-38764772

RESUMEN

In 2013, the World Health Organization defined perivascular epithelioid cell tumor (PEComa) as "a mesenchymal tumor which shows a local association with vessel walls and usually expresses melanocyte and smooth muscle markers." This generic definition seems to better fit the PEComa family, which includes angiomyolipoma, clear cell sugar tumor of the lung, lymphangioleiomyomatosis, and a group of histologically and immunophenotypically similar tumors that include primary extrapulmonary sugar tumor and clear cell myomelanocytic tumor. Clear cell tumors with this immunophenotypic pattern have also had their malignant variants described. When localizing to the liver, preoperative radiological diagnosis has proven to be very difficult, and most patients have been diagnosed with hepatocellular carcinoma, focal nodular hyperplasia, hemangioma, or hepatic adenoma based on imaging findings. Examples of a malignant variant of the liver have been described. Finally, reports of malignant variants of these lesions have increased in recent years. Therefore, we support the use of the Folpe criteria, which in 2005 established the criteria for categorizing a PEComa as benign, malignant, or of uncertain malignant potential. Although they are not considered ideal, they currently seem to be the best approach and could be used for the categorization of liver tumors.


Asunto(s)
Neoplasias Hepáticas , Neoplasias de Células Epitelioides Perivasculares , Humanos , Biomarcadores de Tumor/análisis , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/diagnóstico por imagen , Diagnóstico Diferencial , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias de Células Epitelioides Perivasculares/diagnóstico por imagen , Neoplasias de Células Epitelioides Perivasculares/cirugía , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Valor Predictivo de las Pruebas , Pronóstico
2.
Clin Nucl Med ; 49(6): 567-568, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38631001

RESUMEN

ABSTRACT: We report the findings of 68 Ga-DOTATATE PET/CT in a 56-year-old woman with solitary pulmonary perivascular epithelioid cell tumor. 68 Ga-DOTATATE PET/CT showed a lesion with intense uptake in the region of pancreatic head and a solitary nodule with moderate uptake in the left lung. Pancreatic neuroendocrine tumor with pulmonary metastasis was considered. The postoperative pathological results showed a benign perivascular epithelioid cell tumor of the lung. This case emphasizes the need to increase awareness of benign perivascular epithelioid cell tumors in the differential diagnosis of solitary pulmonary nodule with moderate DOTATATE activity.


Asunto(s)
Neoplasias Pulmonares , Tumores Neuroendocrinos , Compuestos Organometálicos , Neoplasias Pancreáticas , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Persona de Mediana Edad , Femenino , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/patología , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/secundario , Tumores Neuroendocrinos/diagnóstico por imagen , Tumores Neuroendocrinos/patología , Diagnóstico Diferencial , Neoplasias de Células Epitelioides Perivasculares/diagnóstico por imagen , Neoplasias de Células Epitelioides Perivasculares/patología
3.
Am J Surg Pathol ; 48(7): 777-789, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38597260

RESUMEN

Since their original description as a distinctive neoplastic entity, ~50 TFE3 -rearranged perivascular epithelioid cell tumors (PEComas) have been reported. We herein report 25 new TFE3 -rearranged PEComas and review the published literature to further investigate their clinicopathologic spectrum. Notably, 5 of the 25 cases were associated with a prior history of chemotherapy treatment for cancer. This is in keeping with prior reports, based mainly on small case series, with overall 11% of TFE3 -rearranged PEComas being diagnosed postchemotherapy. The median age of our cohort was 38 years. Most neoplasms demonstrated characteristic features such as nested architecture, epithelioid cytology, HMB45 positive, and muscle marker negative immunophenotype. SFPQ was the most common TFE3 fusion partner present in half of the cases, followed by ASPSCR1 and NONO genes. Four of 7 cases in our cohort with meaningful follow-up presented with or developed systemic metastasis, while over half of the reported cases either recurred locally, metastasized, or caused patient death. Follow-up for the remaining cases was limited (median 18.5 months), suggesting that the prognosis may be worse. Size, mitotic activity, and necrosis were correlated with aggressive behavior. There is little evidence that treatment with MTOR inhibitors, which are beneficial against TSC -mutated PEComas, is effective against TFE3 -rearranged PEComas: only one of 6 reported cases demonstrated disease stabilization. As co-expression of melanocytic and muscle markers, a hallmark of conventional TSC -mutated PEComa is uncommon in the spectrum of TFE3 -rearranged PEComa, an alternative terminology may be more appropriate, such as " TFE3 -rearranged PEComa-like neoplasms," highlighting their distinctive morphologic features and therapeutic implications.


Asunto(s)
Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice , Biomarcadores de Tumor , Reordenamiento Génico , Neoplasias de Células Epitelioides Perivasculares , Humanos , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Neoplasias de Células Epitelioides Perivasculares/genética , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias de Células Epitelioides Perivasculares/tratamiento farmacológico , Femenino , Masculino , Adulto , Persona de Mediana Edad , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisis , Adulto Joven , Anciano , Adolescente , Predisposición Genética a la Enfermedad , Inmunohistoquímica , Resultado del Tratamiento , Fenotipo , Antineoplásicos/uso terapéutico
4.
Arch Gynecol Obstet ; 309(6): 2381-2386, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38664269

RESUMEN

Gynecologic perivascular epithelioid cell (PEC) tumors, or 'PEComas,' represent a rare and intriguing subset of tumors within the female reproductive tract. This systematic literature review aims to provide an updated understanding of gynecologic PEComas based on available literature and data. Although PEComa is rare, there are varied tumor-site presentations across gynecologic organs, with uterine PEComas being the most prevalent. There is scarce high-quality literature regarding gynecologic PEComa, and studies on malignant PEComa underscore the challenges in diagnosis. Among the diverse mutations, mTOR alterations are the most prominent. Survival analysis reveals a high rate of local recurrence and metastatic disease, which commonly affects the lungs. Treatment strategies are limited, however mTOR inhibitors have pivotal role when indicated and chemotherapy may also be used. with some cases demonstrating promising responses. The paucity of data underscores the need for multicentric studies, an international registry for PEComas, and standardized reporting in case series to enhance clinical and pathological data.


Asunto(s)
Neoplasias de los Genitales Femeninos , Neoplasias de Células Epitelioides Perivasculares , Humanos , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Femenino , Neoplasias de los Genitales Femeninos/patología , Neoplasias de los Genitales Femeninos/diagnóstico , Inhibidores mTOR/uso terapéutico , Neoplasias Uterinas/patología , Neoplasias Uterinas/diagnóstico , Serina-Treonina Quinasas TOR/antagonistas & inhibidores , Recurrencia Local de Neoplasia/patología
6.
Diagn Pathol ; 19(1): 59, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38622713

RESUMEN

BACKGROUND: PEComa is a mesenchymal tumor that can occur in various organs including the uterus and soft tissues. PEComas are composed of perivascular epithelioid cells, and angiomyolipoma (AML), clear cell sugar tumor (CCST), and lymphangiomyomatosis (LAM) are considered lesions of the same lineage as tumors of the PEComa family. Histologically, a common PEComa shows solid or sheet-like proliferation of epithelioid cells. This is accompanied by an increase in the number of dilated blood vessels. Here, we report a case of pancreatic PEComa with marked inflammatory cell infiltration. CASE PRESENTATION: A 74-year-old male patient underwent an appendectomy for acute appendicitis. Postoperative computed tomography and magnetic resonance imaging revealed a 30 × 25 mm non-contrast-enhanced circular lesion in the tail of the pancreas. The imaging findings were consistent with a malignant tumor, and distal pancreatectomy was performed. Histologically, most area of the lesion was infiltrated with inflammatory cells. A few epithelioid cells with large, round nuclei, distinct nucleoli, and eosinophilic granular cytoplasm were observed. Spindle-shaped tumor cells were observed. Delicate and dilated blood vessels were observed around the tumor cells. Immunohistochemically, the atypical cells were positive for αSMA, Melan A, HMB-45, and TFE3. The cytological characteristics of the tumor cells and the results of immunohistochemical staining led to a diagnosis of pancreatic PEComa. CONCLUSIONS: A histological variant known as the inflammatory subtype has been defined for hepatic AML. A small number of tumor cells present with marked inflammatory cell infiltration, accounting for more than half of the lesions, and an inflammatory myofibroblastic tumor-like appearance. To our knowledge, this is the first report of pancreatic PEComa with severe inflammation. PEComa is also a generic term for tumors derived from perivascular epithelioid cells, such as AML, CCST, and LAM. Thus, this case is considered an inflammatory subtype of PEComa. It has a distinctive morphology that is not typical of PEComa. This histological phenotype should be widely recognized.


Asunto(s)
Neoplasias Renales , Leucemia Mieloide Aguda , Neoplasias de Células Epitelioides Perivasculares , Masculino , Femenino , Humanos , Anciano , Biomarcadores de Tumor , Inmunohistoquímica , Neoplasias de Células Epitelioides Perivasculares/cirugía , Neoplasias de Células Epitelioides Perivasculares/patología , Páncreas/patología
7.
World J Gastroenterol ; 30(13): 1926-1933, 2024 Apr 07.
Artículo en Inglés | MEDLINE | ID: mdl-38659487

RESUMEN

Accurate preoperative diagnosis is highly important for the treatment of perivascular epithelioid cell tumors (PEComas) because PEComas are mainly benign tumors and may not require surgical intervention. By analyzing the causes, properties and clinical manifestations of PEComas, we summarize the challenges and solutions in the diagnosis of PEComas.


Asunto(s)
Neoplasias Hepáticas , Neoplasias de Células Epitelioides Perivasculares , Humanos , Neoplasias de Células Epitelioides Perivasculares/cirugía , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias Hepáticas/cirugía , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/diagnóstico , Hepatectomía , Cuidados Preoperatorios/métodos , Biomarcadores de Tumor/análisis , Diagnóstico Diferencial , Hígado/patología , Hígado/cirugía , Hígado/diagnóstico por imagen
8.
World J Surg Oncol ; 22(1): 116, 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38689335

RESUMEN

PURPOSE: The objective of this paper is to offer a thorough examination of the clinical presentations, etiology, and treatment strategies associated with perivascular epithelioid cell tumors (PEComas). METHODS: This retrospective study examined the comprehensive archival data of PEComa cases diagnosed at Beijing Hospital from 2015 to 2023. The pathology slides of all patients were thoroughly reassessed by two experienced pathologists. A thorough retrospective analysis was undertaken, incorporating clinicopathological data including gender, age at diagnosis, initial clinical manifestations, signs, disease onset site, tumor markers, imaging findings, therapeutic modalities, pathological features, immunohistochemical profiles, treatment responses, and prognostic indicators. Patients were evaluated for disease severity according to established pathological classification criteria and were followed up until the designated analysis cut-off date. In instances where patients were unable to be monitored on-site, they were contacted via telephone for postoperative follow-up inquiries. RESULTS: This study included 11 patients with ages ranging from 17 to 66 years old, presenting with the disease in multiple anatomical sites, including the retroperitoneum (2/11), liver (4/11), kidney (4/11), lung (1/11), and broad ligament of the uterus (1/11). Most patients presented with non-specific clinical symptoms and were subsequently diagnosed with space-occupying lesions upon physical examination. The tumor demonstrated progressive growth and enlargement, which could result in compression of neighboring organs. Preoperative imaging alone is insufficient for a definitive diagnosis of PEComa, but MRI can provide an initial evaluation of the tumor's potential malignancy. Molecular marker testing specific to PEComa, such as HMB-45 (90.0%), SMA (81.8%), Melan-A (90.9%), vimentin (90.9%), and Desmin (36.3%), was conducted on all patients. No adjuvant therapies were administered postoperatively. Upon analysis, no instances of relapse at the primary site or the development of new tumors at other sites were observed. Regular imaging reviews of three patients with malignant PEComa post-surgery showed no evidence of recurrence. CONCLUSIONS: The clinical presentation, tumor biomarkers, and imaging characteristics of PEComa lack specificity, necessitating dependence on pathology and immunohistochemistry for precise diagnosis. The mainstay of treatment consists of surgical resection, with patients typically experiencing a favorable prognosis.


Asunto(s)
Neoplasias de Células Epitelioides Perivasculares , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/análisis , Estudios de Seguimiento , Neoplasias Renales/patología , Neoplasias Renales/cirugía , Neoplasias Renales/diagnóstico , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/metabolismo , Neoplasias Hepáticas/terapia , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/cirugía , Neoplasias Pulmonares/metabolismo , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias de Células Epitelioides Perivasculares/cirugía , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/metabolismo , Pronóstico , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/cirugía , Neoplasias Retroperitoneales/diagnóstico , Neoplasias Retroperitoneales/diagnóstico por imagen , Estudios Retrospectivos
10.
Indian J Pathol Microbiol ; 67(2): 355-361, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38427771

RESUMEN

BACKGROUND: Perivascular epithelioid cell tumors (PEComas) encompass a group of rare mesenchymal neoplasms, with dual melanocytic and muscular differentiation. Hepatic PEComas are rare and difficult to diagnose, and their behavior is still unclear. MATERIALS AND METHODS: Herein, we report a total of five cases of hepatic and perihepatic PEComas over a period of the last 5 years from our and collaborating center's archive. A detailed histological evaluation was done. A comprehensive panel of immunohistochemical stains was used and fluorescence in-situ hybridization analysis was performed for the TFE3 gene using break-apart probes. RESULT: All these patients were women, with an average age of presentation of 44 years. The lesions were in the right hepatic lobe: three cases, the left hepatic lobe: one case, and gastrohepatic ligament: one case. The preoperative clinicoradiological diagnoses were hepatocellular carcinoma (HCC), focal nodular hyperplasia, hemangioma, metastasis, and gastrointestinal stromal tumor, respectively. Surgical excision was performed in four cases with no further adjuvant therapy. Histopathological examination and subsequent immunophenotyping revealed a diagnosis of PEComa. Fluorescence in-situ hybridization analysis was performed for TFE3 gene rearrangement in four cases. CONCLUSIONS: This series highlights the fact that accurate histological diagnosis of hepatic or perihepatic PEComas is important to prevent unnecessary aggressive treatment, unlike primary hepatocellular carcinomas or hepatoid/epithelioid metastatic tumors.


Asunto(s)
Inmunohistoquímica , Hibridación Fluorescente in Situ , Neoplasias Hepáticas , Neoplasias de Células Epitelioides Perivasculares , Humanos , Femenino , Neoplasias de Células Epitelioides Perivasculares/genética , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/patología , Adulto , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/genética , Persona de Mediana Edad , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Hígado/patología , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/genética , Biomarcadores de Tumor/genética
11.
Cancer ; 130(13): 2304-2314, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38470379

RESUMEN

BACKGROUND: Perivascular epithelioid cell neoplasms (PEComas) encompass a heterogeneous family of mesenchymal tumors. Previously described clinicopathologic features aimed at distinguishing benign from malignant variants but lacked prognostic value. METHODS: This retrospective analysis examined clinicopathologic data from patients who had localized PEComa across French Sarcoma Network centers. The authors analyzed 12 clinicopathologic features in a Cox proportional hazard framework to derive a multivariate prognostic risk model for event-free survival (EFS). They built the PEComa prognostic score (PEC-PRO), in which scores ranged from 0 to 5, based on the coefficients of the multivariate model. Three groups were identified: low risk (score = 0), intermediate risk (score = 1), and high risk (score ≥ 2). RESULTS: Analyzing 87 patients who had a median 46-month follow-up (interquartile range, 20-74 months), the median EFS was 96.5 months (95% confidence interval [CI], 47.1 months to not applicable), with 2-year and 5-year EFS rates of 64.7% and 58%, respectively. The median overall survival was unreached, with 2-year and 5-year overall survival rates of 82.3% and 69.3%, respectively. The simplified Folpe classification did not correlate with EFS. Multivariate analysis identified three factors affecting EFS: positive surgical margins (hazard ratio [HR], 5.17; 95% CI, 1.65-16.24; p = .008), necrosis (HR, 3.94; 95% CI, 1.16-13.43; p = .030), and male sex (HR, 3.13; 95% CI, 1.19-8.27; p = 0.023). Four variables were retained in the prognostic model. Patients with low-risk PEC-PRO scores had a 2-year EFS rate of 93.7% (95% CI, 83.8%-100.0%), those with intermediate-risk PEC-PRO scores had a 2-year EFS rate of 67.4% (95% CI, 53.9%-80.9%), and those with high-risk PEC-PRO scores had a 2-year EFS rate of 2.3% (95% CI, 0.0%-18.3%). CONCLUSIONS: The PEC-PRO score reliably predicts the risk of postoperative recurrence in patients with localized PEComa. It has the potential to improve follow-up strategies but requires validation in a prospective trial.


Asunto(s)
Neoplasias de Células Epitelioides Perivasculares , Humanos , Masculino , Femenino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Adulto , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias de Células Epitelioides Perivasculares/terapia , Neoplasias de Células Epitelioides Perivasculares/mortalidad , Neoplasias de Células Epitelioides Perivasculares/cirugía , Anciano , Adulto Joven , Adolescente , Modelos de Riesgos Proporcionales , Tasa de Supervivencia
13.
Am J Surg Pathol ; 48(6): 761-772, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38497360

RESUMEN

Perivascular epithelioid cell tumor (PEComa) is a mesenchymal tumor thought to originate from perivascular epithelioid cells (PECs). The normal counterpart to PEC, however, has not been identified in any human organ, and the debate as to whether PEComa is related to smooth muscle tumors has persisted for many years. The current series characterizes 4 cases of uterine leiomyosarcoma (LMS) coexisting with PEComas. All cases exhibited an abrupt transition from the LMS to PEComa components. The LMS component displayed typical spindled morphology and fascicular growth pattern and was diffusely positive for desmin and smooth muscle myosin heavy chain, completely negative for HMB-45 and Melan A, and either negative or had focal/weak expression of cathepsin K and GPNMB. In contrast, the PEComa tumor cells in case 1 contained glycogen or lipid-distended cytoplasm with a foamy appearance (low grade), and in cases 2, 3, and 4, they displayed a similar morphology characterized by epithelioid cells with eosinophilic and granular cytoplasm and high-grade nuclear atypia. Different from the LMS component, the epithelioid PEComa cells in all cases were focally positive for HMB-45, and diffusely immunoreactive for cathepsin K and GPNMB. Melan A was focally positive in cases 1 and 3. Loss of fumarate hydratase expression (case 1) and RB1 expression (cases 2, 3, 4) was identified in both LMS and PEComa components, indicating that they are clonally related. In addition, both components showed an identical TP53 p.R196* somatic mutation and complete loss of p53 and ATRX expression in case 2 and complete loss of p53 expression in case 3. We hypothesize that LMSs containing smooth muscle progenitor cells may give rise to divergent, lineage-specific PEComatous lesions through differentiation or dedifferentiation. While we do not dispute the recognition of PEComas as a distinct entity, we advocate the hypothesis that modified smooth muscle cells represent the origin of a subset of PEComas, and our case series provides evidence to suggest this theory.


Asunto(s)
Biomarcadores de Tumor , Leiomiosarcoma , Neoplasias de Células Epitelioides Perivasculares , Neoplasias Uterinas , Humanos , Femenino , Leiomiosarcoma/patología , Leiomiosarcoma/química , Leiomiosarcoma/genética , Neoplasias de Células Epitelioides Perivasculares/patología , Neoplasias de Células Epitelioides Perivasculares/química , Neoplasias de Células Epitelioides Perivasculares/genética , Neoplasias Uterinas/patología , Neoplasias Uterinas/química , Neoplasias Uterinas/genética , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Persona de Mediana Edad , Inmunohistoquímica , Desdiferenciación Celular , Adulto , Linaje de la Célula , Anciano , Diferenciación Celular
14.
J Clin Oncol ; 42(13): 1472-1476, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38427923

RESUMEN

Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are not yet available. Clinical Trial Updates provide an opportunity to disseminate additional results from studies, published in JCO or elsewhere, for which the primary end point has already been reported.nab-Sirolimus is approved in the United States for the treatment of metastatic or locally advanced malignant perivascular epithelioid cell tumor (PEComa) on the basis of the primary analysis results of the phase II Advanced Malignant Perivascular Epithelioid Cell Tumors (AMPECT) trial (ClinicalTrials.gov identifier: NCT02494570). Results from the primary analysis were previously published; however, the median duration of response (mDOR) had not been reached at that time. Here, 3 years after the primary analysis, we report final efficacy and safety data (data cutoff: April 29, 2022). At study completion, the confirmed overall response rate (by independent radiologist review using RECIST v1.1) was 38.7% (95% CI, 21.8 to 57.8), with an additional converted confirmed complete response (n = 2). Median progression-free survival remained the same at 10.6 months (95% CI, 5.5 to 41.2). The mDOR was reached at 39.7 months (95% CI, 6.5 to not reached [NR]), and the median overall survival at completion was 53.1 months (95% CI, 22.2 to NR). The most common treatment-related adverse events (TRAEs) were stomatitis (82.4%) and fatigue and rash (each 61.8%). No new or unexpected adverse events occurred, and no grade ≥4 TRAEs were reported. These results highlight the long-term clinical benefit of nab-sirolimus in patients with advanced malignant PEComa, with a DOR of >3 years.


Asunto(s)
Neoplasias de Células Epitelioides Perivasculares , Sirolimus , Humanos , Femenino , Masculino , Persona de Mediana Edad , Neoplasias de Células Epitelioides Perivasculares/tratamiento farmacológico , Adulto , Anciano , Sirolimus/uso terapéutico , Sirolimus/efectos adversos , Sirolimus/administración & dosificación , Supervivencia sin Progresión , Antibióticos Antineoplásicos/uso terapéutico , Antibióticos Antineoplásicos/efectos adversos
15.
Medicina (Kaunas) ; 60(3)2024 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-38541135

RESUMEN

A primary liver perivascular epithelioid cell tumor (PEComa) is an extremely rare entity. In this article, we present a case report with a review of the literature on the patients diagnosed with primary liver PEComa and an elaboration of diagnostic and treatment modalities. A systematic literature search was conducted using the terms "perivascular epithelioid cell tumor", "PEComa", "liver", and "hepatic". All articles describing patients diagnosed with primary liver PEComa were included. We identified a total of 224 patients of primary liver PEComa from 75 articles and a case from the present study with a significant preponderance of females (ratio 4:1) and with a mean age of 45.3 ± 12.1 years. Most of the patients (114 out of 224, 50.9%) were asymptomatic. A total of 183 (81.3%) patients underwent surgical hepatic resection at the time of diagnosis, while 19 (8.4%) underwent surveillance. Recurrence and metastases were detected in seven (3.1%) and six (2.7%) patients, respectively. In conclusion, surgical resection remains the cornerstone of therapy; however, the presence of nonspecific imaging features makes it difficult to reach a definite diagnosis preoperatively. Therefore, a multidisciplinary approach should be the gold standard in selecting the treatment modality.


Asunto(s)
Angiomiolipoma , Neoplasias Gastrointestinales , Neoplasias Hepáticas , Neoplasias de Células Epitelioides Perivasculares , Femenino , Humanos , Adulto , Persona de Mediana Edad , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/cirugía , Neoplasias Hepáticas/patología , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/cirugía
16.
Future Oncol ; 20(5): 283-295, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38426361

RESUMEN

Perivascular epithelioid cell neoplasms (PEComas) are rare mesenchymal lesions, with gynecological PEComas accounting for just over a quarter of cases. Limited reports exist on gynecological PEComa, primarily treated with surgery; adjuvant therapy is considered in high-risk cases. This systematic review aims to summarize the origin and clinical, pathological and molecular characteristics of uterine PEComa, focusing on treatment options for gynecological PEComa. A comprehensive PubMed review of gynecological PEComa reports was conducted. A detailed examination of the literature ensured a thorough understanding. Gynecological PEComa diagnosis relies on histology and immunology. Despite therapy controversies, surgery remains the mainstay. Adjuvant therapy efficacy in high-risk cases is uncertain. mTOR inhibitors are the first line; alternative treatments, including angiogenesis and aromatase inhibitors, should be considered.


Asunto(s)
Ginecología , Neoplasias de Células Epitelioides Perivasculares , Femenino , Humanos , Terapia Combinada , Diagnóstico Diferencial , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/terapia , Neoplasias de Células Epitelioides Perivasculares/patología
17.
Clin Nucl Med ; 49(6): e295-e297, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38377375

RESUMEN

ABSTRACT: We compared 18 F-FAPI and 18 F-FDG PET/CT findings of metastatic perivacular epitheliod cell tumor in a 23-year-old woman. Apart from showing strong uptake of a left upper lung mass that showed moderate uptake on 18 F-FDG, 18 F-FAPI PET/CT additionally presented hypermetabolism in diffuse multifocal lesion throughout the body. This case suggests that 18 F-FAPI PET/CT might play a more beneficial role than 18 F-FDG PET/CT in identifying and assessing the extent of perivascular epithelioid cell tumors.


Asunto(s)
Metástasis de la Neoplasia , Neoplasias de Células Epitelioides Perivasculares , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Femenino , Neoplasias de Células Epitelioides Perivasculares/diagnóstico por imagen , Neoplasias de Células Epitelioides Perivasculares/patología , Adulto Joven , Fluorodesoxiglucosa F18
18.
Indian J Pathol Microbiol ; 67(1): 137-140, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38358203

RESUMEN

Malignant perivascular epithelioid tumors (PEComas) involving the uterus are uncommon. Herein, we present the clinicopathological features of two such cases, including their diagnostic implications with recent updates. A 62-year-old lady presented with vaginal bleeding. Ultrasonogram revealed a heterogeneous uterine mass. She underwent an endometrial biopsy and total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO), which revealed a 3.2 cm-sized proliferative tumor in the fundus. A 45-year-old lady presented with recurrent abdominal pain. She underwent cytoreductive surgery twice with adjuvant chemotherapy for multiple tumors and TAH-BSO for a uterine tumor, 2 years before. Microscopic examination of both tumors revealed markedly atypical, polygonal-shaped/epithelioid tumor cells containing eosinophilic cytoplasm and arranged in a nesting pattern with intervening thin-walled blood vessels, mitotic figures (≥ 6/10 high power fields (hpfs)), and tumor necrosis. Tumor infiltration was more than half the myometrial thickness in the first tumor and pelvic nodal metastasis. The second tumor revealed rhabdoid-like and vacuolated cells along with "spider-like" giant cells. Immunohistochemically, both the tumors were positive for HMB45 and desmin, while negative for epithelial markers. Additionally, the second tumor was positive for smooth muscle actin (SMA) and TFE3. Both patients developed tumor recurrences. In view of multiple tumor deposits, the second patient was induced with a mammalian target of rapamycin (m-TOR) inhibitor (everolimus) but unfortunately died of the disease. Malignant PEComas involving the uterus are ultra-rare, aggressive tumors. An index of suspicion, based on certain histomorphological features, supported by immunohistochemical expression of myomelanocytic markers is necessary for a correct diagnosis. Certain PEComas display TFE3 positivity. A correct diagnosis has significant implications, including an aggressive clinical course and the possibility of targeted therapy, especially in recurrences or metastasis.


Asunto(s)
Neoplasias Primarias Secundarias , Neoplasias de Células Epitelioides Perivasculares , Femenino , Humanos , Persona de Mediana Edad , Biomarcadores de Tumor , Inmunohistoquímica , Recurrencia Local de Neoplasia , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/cirugía , Útero/patología , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice
19.
Surg Pathol Clin ; 17(1): 105-118, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38278600

RESUMEN

Perivascular epithelioid cell tumors (PEComas) are a heterogenous group of mesenchymal neoplasms with a mixed myomelanocytic immunophenotype. PEComa-family tumors include angiomyolipoma, lymphangioleiomyomatosis, and a large category of rare neoplasms throughout the body that are now classified under the umbrella term "PEComa." This review focuses on recent advances in the clinicopathological and molecular features of PEComas, with an emphasis on PEComas that originate in soft tissue.


Asunto(s)
Neoplasias de los Tejidos Conjuntivo y Blando , Neoplasias de Células Epitelioides Perivasculares , Humanos , Biomarcadores de Tumor/genética , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/genética , Neoplasias de Células Epitelioides Perivasculares/patología
20.
BMJ Case Rep ; 17(1)2024 Jan 12.
Artículo en Inglés | MEDLINE | ID: mdl-38216169

RESUMEN

A postmenopausal female patient presented with vaginal bleeding. Initial bloodwork revealed an elevated serum beta human chorionic gonadotropin level (ß-hCG). Pelvic MRI identified a complex heterogeneous uterine mass with central necrosis. She underwent total abdominal hysterectomy with bilateral saplingo-oopherectomy. Pathology reported a malignant perivascular epithelioid cell tumour (PEComa). Postoperatively, her ß-hCG level returned to normal. ß-hCG secreting sarcomas are extremely rare, and to our knowledge, there has only been one previously reported case of a ß-hCG secreting PEComa. Based on the limited literature, these tumours may have a worse prognosis. The role of ß-hCG as a marker of treatment response and disease activity is unclear. Additional studies are required to further ascertain its role as a predictive and prognostic biomarker.


Asunto(s)
Gonadotropina Coriónica Humana de Subunidad beta , Neoplasias de Células Epitelioides Perivasculares , Humanos , Femenino , Pronóstico , Histerectomía , Hemorragia Uterina/etiología
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