Perivascular epithelioid cell tumor of the lung: a clinicopathological analysis of eight cases / 中华病理学杂志

Objective: To investigate the clinicopathological features of perivascular epithelioid cell tumor (PEComa) of the lung. Methods: Eight PEComa cases of the lung diagnosed at the First Affiliated Hospital of Soochow University, Suzhou, China from July 2008 to December 2021 were collected and subject to immunohistochemical staining, fluorescence in situ hybridization and next generation sequencing. The relevant literature was reviewed and the clinicopathological features were analyzed. Results: There were 5 males and 3 females, aged from 18 to 70 years (mean 39 years). There were 3 cases of the right upper lung, 3 cases of the left lower lung, 1 case of the left upper lung and 1 case of the right middle lung. Seven cases were solitary and 1 case was multifocal (4 lesions). Seven cases were benign while one was malignant. The tumors were all located in the peripheral part of the lung, with a maximum diameter of 0.2-4.0 cm. Grossly, they were oval and well circumscribed. Microscopically, the tumor cells were oval, short spindle-shaped, arranged in solid nests, acinar or hemangiopericytoma-like patterns, with clear or eosinophilic cytoplasm. The stroma was rich in blood vessels with hyalinization. Coagulated necrosis and high-grade nuclei were seen in the malignant case, and calcification was seen in 2 cases. Immunohistochemically, the tumor cells were positive for Melan A (8/8), HMB45 (7/8), CD34 (6/8), TFE3 (4/7), and SMA (3/8). All cases were negative for CKpan and S-100. TFE3 (Xp11.2) gene fusion was examined using the TFE3 break-apart fluorescence in situ hybridization in 5 cases, in which only the malignant case was positive. The next generation sequencing revealed the SFPQ-TFE3 [t(X;1)(p11.2;p34)] fusion. Follow-up of the patients ranged from 12 to 173 months while one patient was lost to the follow-up. The malignant case had tumor metastasis to the brain 4 years after the operation and then received radiotherapy. Other 6 cases had no recurrence and metastasis, and all the 7 patients survived. Conclusions: Most of the PEComas of the lung are benign. When there are malignant morphological features such as necrosis, high-grade nuclei or SFPQ-TFE3 gene fusion, close follow-up seems necessary.

Sporadic Renal Angiomyolipoma: Can We Adopt a Uniform Management Protocol / Angiomiolipoma renal esporádico: ¿Podemos adoptar un protocolo de tratamiento estándar?

Renal angiomyolipomas (AMLs), formerly known as PEComas (tumors showing perivascular epithelioid cell differentiation) are common benign renal masses composed of a varying ratio of fat, blood vessels, and smooth muscles. They are largely asymptomatic and diagnosed incidentally on imaging. The adipose tissue content is the factor that gives AMLs their characteristic appearance on imaging and makes them easily identifiable. However, the fat-poor or fat-invisible varieties, which are difficult to differentiate radiologically from renal cell carcinomas (RCCs), present a diagnostic challenge. It is thus essential to establish the diagnosis and identify the atypical and hereditary cases as they require more intense surveillance and management due to their potential for malignant transformation. Multiple management options are available, ranging from conservative approach to embolization and to the more radical option of nephrectomy. While the indications for intervention are relatively clear and aimed at a rather small cohort, the protocol for follow-up of the remainder of the cohort forming the majority of cases is not well established. The surveillance and discharge policies therefore vary between institutions and even between individual practitioners. We have reviewed the literature to establish an optimum management pathway focusing on the typical AMLs.

Los angiomiolipomas renales (AML), antes conocidos como PEComas (tumores que muestran epitelioides perivasculares) son masas renales benignas frecuentes compuestas por una proporción variable de grasa, vasos sanguíneos y músculos lisos. Suelen ser asintomáticos y se diagnostican de forma incidental en las pruebas de imagen. El contenido de tejido adiposo es el factor que confiere a los AML su aspecto característico en las imágenes y los hace fácilmente identificables. Sin embargo, las variedades pobres en grasa o invisibles, que son difíciles de diferenciar radiológicamente de los carcinomas de células renales (CCR), suponen un reto diagnóstico. Por lo tanto, es esencial establecer el diagnóstico e identificar los casos atípicos y hereditarios, ya que requieren una vigilancia y un tratamiento más intensos debido a su potencial de malignización. debido a su potencial de transformación maligna. Existen múltiples opciones de tratamiento, que van desde el enfoque conservador hasta la embolización y la opción más radical de la nefrectomía. Si bien las indicaciones para la intervención son relativamente claras y están dirigidas a una cohorte bastante pequeña, el protocolo para el seguimiento del resto de la cohorte que forma la mayoría de los casos no está bien establecido. Por lo tanto, las políticas de vigilancia y alta varían entre instituciones e incluso entre profesionales individuales. Hemos revisado la literatura para establecer una ruta de manejo óptima centrada en los AML típicos.

Histopathology and immunohistochemistry of peripheral neural sheath tumor and perivascular wall tumor in dog / Histopatologia e imuno-histoquímica de tumor de bainha de nervo periférico e de tumor de parede perivascular em cães

Soft tissue sarcomas (STS) comprise a heterogeneous group of malignancies derived from extra-skeletal mesenchymal tissues that may show similar histopathological changes. Histopathologic patterns suggestive of perivascular wall tumors (PWT) and peripheral nerve sheath tumors (PNST) have been described. This study investigated the histogenesis in a series of 71 cases of canine STS that showed morphological compatibility with what is described for PWT and PNST. Immunohistochemistry analysis were done to CD56, S100, SMA, Desmin, Von Willebrand Factor, NSE and GFAP. Twenty-one cases (29.6%) showed histopathologic features compatible with PWT, 23 cases (32.4%) with PNST and 27 cases (38.0%) shared both histopathological features. By immunohistochemistry, 59 (83.1%) cases showed positivity only for neural markers and 12 (16.9%) had simultaneous positivity for both neural and muscle markers. PNST was the most prevalent neoplasm and none of the cases were positive for muscle markers only. The histopathologic features were not useful to define the diagnosis of PWT, since most tumors were negative for muscle markers but positive for neural markers. Due to this immunoreactivity and the morphologic features, future studies may propose guidelines for the classification of these neoplasms.(AU)

Sarcoma de tecidos moles (STM) compreende um grupo heterogêneo de neoplasias malignas, derivadas de tecidos extraesqueléticos, que podem apresentar alterações histopatológicas similares. Os padrões histopatológicos sugestivos de tumor de parede perivascular (TPP) e de tumor de bainha de nervo periférico (TBNP) têm sido descritos. Este estudo investigou a histogênese de uma série de 71 STM caninos, que apresentavam compatibilidade morfológica com o que é descrito para TPP e TBNP. A análise imuno-histoquímica foi feita para CD56, S100, SMA, Desmina, Fator Von Willebrand, NSE e GFAP. Vinte e um casos (29,6%) apresentaram características histopatológicas compatíveis com TPP, 23 casos (32,4%) com TBNP e 27 casos (38,0%) apresentaram características histopatológicas de ambos. Na imuno-histoquímica, 59 (83,1%) casos apresentaram positividade somente para marcadores neurais e 12 (16,9%) tiveram positividade simultânea tanto para marcadores neurais como para marcadores musculares. TBNP foi a neoplasia mais prevalente e nenhum dos casos foi positivo para somente para marcadores musculares. As características histopatológicas não foram úteis para definir o diagnóstico de TPP, uma vez que a maioria foi negativa para marcadores musculares, mas positiva para marcadores neurais. Devido a essa imunorreatividade e às características morfológicas, pesquisas futuras poderão propor orientações para a classificação dessas neoplasias.(AU)

Recurrence of retroperitoneal localized perivascular epithelioid cell tumor two years after initial diagnosis: case report

ABSTRACT CONTEXT: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors. Adjuvant radiotherapy and/or chemotherapy are administered according to the patient's clinical characteristics. CASE REPORT: A 42-year-old female patient was operated to treat a retroperitoneal mass. The diagnosis was established as PEComa with benign behavior. Two years after the diagnosis, chest and abdominal computed tomography scans showed intra-abdominal recurrence and lymphangioleiomyomatosis in the lung. Treatment with everolimus was started. The disease stabilized in the third month of treatment, according to the response evaluation criteria in solid tumors. CONCLUSION: PEComas are tumors with unpredictable behavior. Therefore, these patients require long-term follow-up, even in cases of correct diagnosis and benign PEComa.

TFE3-Expressing Perivascular Epithelioid Cell Tumor of the Breast

Perivascular epithelioid cell tumor (PEComa) is a very rare mesenchymal tumor with a distinctive morphology and immunophenotype. PEComas usually harbor TSC2 alterations, although TFE3 translocations, which occur in MiT family translocation renal cell carcinoma and alveolar soft part sarcoma, are also possible. We recently experienced a case of PEComa with TFE3 expression arising in the breast. An 18-year-old female patient presented with a right breast mass. Histologically, the tumor consisted of epithelioid cells with alveolar structure and showed a diffuse strong expression of HMB45 and TFE3. TSC2 was preserved. Melan A and smooth muscle actin were negative. To our knowledge, this is the first Korean case of PEComa of the breast that intriguingly presented with TFE3 expression.

PEComa (neoplasia de células epiteliodes perivasculares) asociado con cáncer papilar de tiroides bilateral sincrónico / PEComa (Perivascular Epithelioid Cell Neoplasms) associated with synchronous bilateral papillary thyroid cancer

Resumen Introducción: Los tumores de células epitelioides perivasculares (PEComas) son neoplasias poco frecuentes de origen mesenquimal. Estos incluyen el angiomiolipoma epitelioide (EAML), una neoplasia con potencial maligno y cuya presentación simultánea con cáncer de tiroides es bastante rara. Presentación del caso: Hombre de 40 años con masa de crecimiento rápido en relación con polo inferior derecho de tiroides e infiltración de tráquea. La TAC abdominopélvica contrastada muestra múltiples masas renales con masa dominante en polo superior izquierdo. El estudio histopatológico de tiroides evidenció una lesión en lóbulo derecho correspondiente a cáncer papilar de tiroides (PTC) de variante de células altas y una segunda neoplasia en el lóbulo contralateral correspondiente a PTC moderadamente diferenciado de variante clásica. En riñón se encontró una lesión correspondiente a EAML, con células de aspecto epitelioide equivalentes al 40%. Discusión: El presente artículo corresponde al primero en la literatura en describir la presentación simultánea de EAML con PTC bilateral sincrónico (SBiPTC). Se describe una vía molecular común, que corresponde a la vía TSC/mTOR, la prevalencia de SBiPTC y los marcadores inmunohistoquímicos para diagnóstico de EAML.

Abstract Introduction: Perivascular Epithelioid Cell Neoplasms (PEComas) are uncommon tumors of mesenchymal origin. These ones include the epithelioid angiomyolipoma (EAML), a tumor with malignant potential and whose simultaneous presentation with thyroid cancer is quite rare. Presentation of case: Forty years old man with fast-growing mass in relation to lower right thyroid pole and tracheal infiltration. Abdominopelvic contrast-enhanced CT shows multiple renal masses with dominant mass in the left upper pole. Thyroid histopathology showed a lesion in right lobe corresponding to tall cell variant of papillary thyroid cancer (PTC) and a second neoplasm in the contralateral lobe corresponding to classical variant of moderately differentiated PTC. In the kidney was found a tumor corresponding to EAML with epithelioid aspect cells equivalent to 40%. Discussion: This article corresponds to the first in the literature to describe the simultaneous presentation of EAML with synchronous bilateral PTC (SBiPTC) and its possible association. A common molecular pathway corresponding to the TSC/mTOR pathway is described, as well as SBiPTC prevalence and immunohistochemical markers for EAML diagnosis.

Angioleiomioma oral: relato de um caso e revisão dos achados atuais / Oral angioleiomyoma: case report and a review of current findings

Resumo O angioleiomioma é uma neoplasia benigna que, a partir da nova classificação da OMS (2013) para os tumores de tecidos moles, deixou de ser considerado um tumor de origem muscular lisa, passando a ser considerado um tumor de origem perivascular. Raramente os angioleiomiomas ocorrem na cavidade oral. A lesão é tratada cirurgicamente, com prognóstico considerado favorável. Este trabalho revisa os casos de angioleiomioma oral relatados na literatura nos últimos 5 anos e descreve esse tumor em um homem de 44 anos que apresentou um nódulo assintomático localizado em lábio superior, com evolução de 6 meses. As hipóteses diagnósticas foram de adenoma pleomórfico e adenoma canalicular. A lesão foi submetida à biópsia e análise histopatológica e imuno-histoquímica (S100, CD34, α-SMA, H-caldesmon e desmina) confirmaram o diagnóstico de angioleiomioma. Destacamos a imuno-histoquímica como um importante método auxiliar no diagnóstico diferencial do angioleiomioma com outras lesões e, principalmente, com o miopericitoma.

Abstract Angioleiomyoma is a benign neoplasm that was considered a tumor of smooth-muscle origin until the most recent (2013) WHO classification of soft tissue tumors, in which it was reclassified as a tumor of perivascular origin. Angioleiomyomas rarely occur in the oral cavity. These lesions are treated surgically with good prognosis. This article presents a review of reports of oral angioleiomyoma in the literature from the last 5 years and describes the case of a 44-year-old man who presented with an asymptomatic nodule in the upper lip that had developed over a 6-month period. Diagnostic hypotheses of pleomorphic adenoma or canalicular adenoma were raised. Biopsy of the lesion, histopathological and immunohistochemical analysis (S100, CD34, H-caldesmon, and desmin) confirmed a diagnosis of angioleiomyoma. It is noteworthy that immunohistochemistry is an important auxiliary method for differential diagnosis of angioleiomyoma from other tumors, particularly myopericytoma.

Eficacia y seguridad de everolimus para el tratamiento de pacientes adultos con cáncer renal metastásico de células claras que han progresado al tratamiento de primera líena con inhibidores de la tirosina quinasa / Efficacy and safety of everolimus for the treatment of adult patients with clear cell metastatic renal cancer who have progressed to first-line treatment with tyrosine kinase inhibitors

INTRODUCCIÓN: Antecedentes: El presente dictamen expone la evaluación de la eficacia y seguridad del medicamento everolimuspara el tratamiento de pacientes adultos con cácner renal metastásico de células claras que han progresado al tratamiento de primera línea con inhibidores de la tirosina quinasa. Aspectos Generales: El carcinoma de células renames (CCR), es cual se origina dentro de la corteza renal, es el tipo más frecuente de cáncer de rinón en adultos, representando hasta el 90% de todos éstos. Tecnología Sanitaria de Interés: Everolimus: Everolimus es un inhibidor selectivo de la vía del mTOR. La mTOR es una serinatreonina-quinasa que participa en el control de la división celular y la dilatación de los vasos sanguíneos. Everolimus se une a una proteína denominada FKBP-12 presente en el interior de las células formando un complejo que inhibe la actividad del complejo mTOR. Su mecanismo de acción consiste en el bloqueo del crecimiento y proliferación de las células neoplásicas, la reducción de la angiogénesis (formación de vasos que suministran sangre al tumor) y la modificación del metabolismo celular llevando a la interrupción de la división celular y la autodestrucción de la misma. METODOLOGÍA: Estrategia de Búsqueda: Se realizó una busqueda sistemática de la evidencia cientifica, especialmente la proveniente de ensayos clínicos, con respecto a la eficacia y seguridad de everolimus para el tratamiento de segunda línea en pacientes adultos con diagnóstico de CCR metastásico de células claras, en las bases de datos PUBMED y TRIPDATABASE. Se realizó una busqueda dentro de bases de datos pertenecientes a grupos que realizan revisiones sistemáticas, evaluación de tecnologías sanitarias y guías de práctica clínica. RESULTADOS: Sinopsis de la Evidencia: Se realizó una búsqueda de la literatura con respecto a la eficacia y seguridad de everolimus como tratamiento de pacientes adultos con cáncer renal metastásico de células claras que han progresado al tratamiento de primera línea con inhibidores de la tirosina quinasa. CONCLUSIONES: El presente documento evaluó la evidencia científica publicada hasta enero del 2017 sobre la eficacia y seguridad de everolimus, en comparación a la mejor terapia de soporte o placebo, para el tratamiento de pacientes adultos con cáncer renal metastásico de células claras que han progresado al tratamiento de primera línea con inhibidores de la tirosina quinasa. El Instituto de Evalución de Tecnologías en Salud e Investigación (IETSI) no aprueba el uso de everolimus para el tratamiento de pacientes adultos con cáncer renal metastásico de células claras que han progresado al tratamiento de primera línea con inhibidores de la tirosina quinasa.

Perivascular Epithelioid Cell Tumors (PEComas) of the Orbit

No abstract available.

Perivascular Epithelioid Cell Tumor in the Stomach

Perivascular epithelioid cell tumors or PEComas can arise in any location in the body. However, a limited number of cases of gastric PEComa have been reported. We present two cases of gastric PEComas. The first case involved a 62-year-old woman who presented with a 4.2 cm gastric subepithelial mass in the prepyloric antrum, and the second case involved a 67-year-old man with a 5.0 cm mass slightly below the gastroesophageal junction. Microscopic examination revealed that both tumors were composed of perivascular epithelioid cells that were immunoreactive for melanocytic and smooth muscle markers. Prior to surgery, the clinical impression of both tumors was gastrointestinal stromal tumor (GIST), and the second case was erroneously diagnosed as GIST even after microscopic examination. Although gastric PEComa is a very rare neoplasm, it should be considered in the differential diagnosis of gastric submucosal lesions.

Hepatic perivascular epithelioid cell tumor (PEComa): a case report with a review of literatures

Hepatic perivascular epithelioid cell tumors (PEComas) are very rare. We report a primary hepatic PEComa with a review of the literature. A 56-year-old women presented with a nodular mass detected during the management of chronic renal failure and chronic hepatitis C. Diagnostic imaging studies suggested a nodular hepatocellular carcinoma in segment 5 of the liver. The patient underwent partial hepatectomy. A brown-colored expansile mass measuring 3.2×3.0 cm was relatively demarcated from the surrounding liver parenchyma. The tumor was mainly composed of epithelioid cells that were arranged in a trabecular growth pattern. Adipose tissue and thick-walled blood vessels were minimally identified. A small amount of extramedullary hematopoiesis was observed in the sinusoidal spaces between tumor cells. Tumor cells were diffusely immunoreactive for human melanoma black 45 (HMB45) and Melan A, focally immunoreactive for smooth muscle actin, but not for hepatocyte specific antigen (HSA).

Epithelioid angiomyolipoma of the liver: a case report

Epithelioid angiomyolipoma (EAML) of liver is a rare neoplasm. Hepatic EAML is often misdiagnosed as other neoplasms such as hepatocellular carcinoma due to non-specific clinical and radiologic features. The morphologic features under microscope and immunohistochemistry staining profile are important in the diagnosis EAML. Here, we report a case of 52-year-old man who found 1.2 cm mass in liver by routine checkup. On the impression of hepatocellular carcinoma, lateral sectionectomy of the liver was done. Microscopically, the tumor is composed of predominant epithelioid cells with vascular component and foamy cells. These cells were positive for HMB45, MelanA, and smooth muscle actin and negative for epithelial membrane antigen. The final diagnosis was hepatic EAML.

Angiomyolipoma of the Glabellar Region

Angiomyolipomas are hamartomatous lesions consisting of smooth muscle bundles, thick-walled blood vessels, and mature adipocytes. They are usually found in the kidneys of tuberous sclerosis patients and more rarely in other organs, such as the liver, the oral cavity, the sinonasal tract, the heart, the large intestines, the lungs, and the skin. Cutaneous angiomyolipoma has shown to be very rare and generally occurs at the ends of the digits, the elbows, the ears, and the nose. Herein, we report the first documented case of angiomyolipoma of the glabellar region.

Eficacia y seguridad de pazopanib en comparacion con sunitinib en pacientes con diagnóstico de carcinoma renal de élulas claras metastásico sin tratamiento previo, ecog 0-1 y factor de riesgo intermedio o bajo MSKCC / Efficacy and safety of pazopanib compared to sunitinib in patients with clear metastatic renal cell carcinoma without previous treatment, echocardiography 0-1 and intermediate or low risk factor MSKCC

INTRODUCCIÓN: Antecedentes: El presente informe expone la evaluación del medicamento pazopanib respecto a su uso en pacientes con carcinoma renal de células claras metastásico que no hayan recibido tratamiento previo. Aspectos Generales: El carcinoma de células renales (RCC) representa el 2-3% de todas las neoplasias malignas a nivel mundial, siendo la séptima causa más común de cáncer en varones y la novena causa más común en mujeres. En el Perú, el 1.7% de todos los casos de cáncer reportados entre el 2006 y el 2011 fueron de origen renal(3). El carcinoma renal de células claras representa el 65-90% de todos los RCC por lo que la mayor parte de estudios en RCC se hacen tomando como referencia a esta población. La aparición de RCC se ha asociado a factores como el tabaquismo, obesidad, insuficiencia renal crónica terminal, enfermedad quística renal adquirida, esclerosis tuberosa y la edad avanzada. METODOLOGÍA: Estrategia de Búsqueda: Se realizó una búsqueda de la literatura con respecto a la eficacia y seguridad de \r\npazopanib en comparación con sunitinib sobre la sobrevida global, sobrevida libre de enfermedad, calidad de vida, perfil de eventos adversos y tasa de respuesta objetiva de pacientes con carcinoma renal de células claras metastásico sin tratamiento previo, ECOG 0-1 y factor de riesgo intermedio o bajo MSKCC en las bases de datos MEDLINE. Se hizo una búsqueda adicional en www.clinicaltrials.gov, para poder identificar ensayos aun en elaboración o que no hayan sido publicados. Adicionalmente, se hizo una búsqueda dentro de la información generada por grupos que realizan revisiones sistemáticas, evaluación de tecnologías sanitarias y guías de práctica clínica, tales como The Cochrane Library, The National Institute for Health and Care Excellence (NICE), The National Guideline for Clearinghouse. Por último, también se buscaron GPC y \r\npublicaciones en grupos dedicados a la educación, investigación y mejora en la práctica clínica oncológica, tales como The National Comprehensive Cancer Network (NCCN), American Society of Clinical Oncology (ASCO) y European Society of Medical Oncology (ESMO). RESULTADOS: Se realizó la búsqueda bibliográfica y de evidencia científica que sustente el uso de pazopanib como tratamiento de primera línea para pacientes con diagnóstico de RCC de células claras metastásico sin tratamiento previo, en comparación con sunitinib. Se presenta la evidencia simplificada y correspondiente a guías de práctica clínica, revisiones sistemáticas y meta-análisis de los últimos 3 años; así como los ensayos clínicos con fecha de publicación posterior a las revisiones sistemáticas incluidas. CONCLUSIÓN: De acuerdo a la revisión de las información científica existente, se concluye que el fármaco pazopanib administrado en dosis de 800mg vía oral por día es \r\nuna intervención equivalente a sunitinib para el tratamiento de primera línea de pacientes con carcinoma renal de células claras sin tratamiento previo, de pronóstico bueno o intermedio según el score MSKCC y ECOG 0-1. Los estudios muestran que pazopanib no es inferior a sunitinib respecto a variables de eficacia como sobrevida global, la sobrevida libre de enfermedad y la tasa de respuesta objetiva, y aunque el estudio de Motzer et al., encuentra diferencias pequeñas respecto a la seguridad relacionadas a la fatiga y síndrome mano-pie en favor a pazopanib, estas diferencias bien podrían explicarse por las limitaciones metodológicas del ensayo clínico, por lo que permanecen por ser corroboradas en futuros estudios independientes. Además, existen diferencias respecto a efectos adversos en variables hematológicas (menor probabilidad de trombocitopenia en el grupo de pazopanib) y de la función hepática (menor probabilidad de hepatotoxicidad en \r\nel grupo de sunitinib) que no permiten justificar la recomendación de una droga sobre la otra. De hecho, la proporción de descontinuación del tratamiento por cualquier causa fue similar para pazopanib y sunitinib (88% en ambos grupos), aunque la descontinuación por efectos adversos fue ligeramente mayor para el grupo en pazopanib que en el sunitinib, principalmente por la descontinuación debida a la hepatotoxicidad (6% en el grupo de pazopanib, y 1% en el grupo de sunitinib). Actualmente, Essalud tiene disponible sunitinib aprobado para su uso fuera del petitorio mediante Dictamen Preliminar 004-SDEPFyOTS-DETS-IETSI-ESSALUD-2015 para primera línea de tratamiento en cáncer renal de células claras. El Instituto de Evaluación de Tecnologías en Salud e Investigación-IETSI, no aprueba el uso de pazopanib como primera línea de tratamiento en cáncer renal de células claras.

A Case of Malignant PEComa of the Uterus Associated with Intramural Leiomyoma and Endometrial Carcinoma

Perivascular epithelioid cell tumors (PEComas) refers to a family of mesenchymal neoplasms composed of angiomyolipomas, clear cell “sugar” tumors of the lung, and lymphangioleiomyomatoses. These tumors have a distinctive and common component of perivascular epithelioid cells that show an association with blood vessel walls and immunohistochemically display myomelanocytic differentiation. The unique neoplasms have been shown to have an expanded range through a variety of case reports, including visceral, intra-abdominal, soft tissue, and bone tumors. The retroperitoneum, abdominopelvic region, and uterus have been reported to be the most common sites. Most PEComas follow a benign course. However, reports of malignant PEComas are increasing. Many papers have described uterine PEComas, but to our knowledge, there have not yet been any reports of a malignant PEComa arising concomitant with another epithelial tumor and mesenchymal tumor. We report herein the case of a 67-year-old woman who experienced a malignant uterine PEComa infiltrating a preexisting intramural leiomyoma with synchronous well differentiated endometrial carcinoma and multiple liver and lung metastases.

Sclerosing Perivascular Epithelioid Cell Tumor of the Lung: A Case Report with Cytologic Findings

Benign perivascular epithelioid cell tumor (PEComa) of the lung is a rare benign neoplasm, a sclerosing variant of which is even rarer. We present a case of 51-year-old man who was diagnosed with benign sclerosing PEComa by percutaneous fine needle aspiration cytology and biopsy. The aspirate revealed a few cell clusters composed of bland-looking polygonal or spindle cells with fine granular or clear cytoplasm. Occasional fine vessel-like structures with surrounding hyalinized materials were seen. The patient later underwent wedge resection of the lung. The histopathological study of the resected specimen revealed sheets of polygonal cells with clear vacuolated cytoplasm, variably sized thin blood vessels, and densely hyalinized stroma. In immunohistochemical studies, reactivity of tumor cells for human melanoma black 45 and Melan-A further supported the diagnosis of benign sclerosing PEComa. To the best of our knowledge, this is the first case of benign sclerosing PEComa described in lung.

Estudio de tiempo de progresión y sobrevida global en pacientes con cáncer renal de células claras metastásico tratados con Sunitinib en el servicio de Oncología del Hospital Carlos Andrade Marín en el período comprendido entre enero de 2010 a diciembre de 2012 / Progression and global survival times study in patients with clear-cell terminal kidney cancer treated with Sunitinib in the Carlos Andrade Marin Hospital Oncolgy department during the January 2010 ­ December 2012 period

Introducción: el carcinoma renal de células claras (CRCC) es el más común de los cánceres del riñón, al tiempo del diagnóstico un 30% de pacientes presenta metástasis y un 40% se encuentra en recurrencia de la enfermedad. Es altamente resistente al tratamiento de quimioterapia y se ha evidenciado pobres respuestas con las interleuquinas e interferón antes utilizados, por lo que actualmente la terapia blanco con inhibidores de la tirosina quinasa son utilizados. Este estudio tiene como objetivo establecer la sobrevida global y el tiempo de progresión en pacientes con CRCC metastásico tratados con Sunitinib. Materiales y métodos: estudio clínico de cohorte analítico retrospectivo, con análisis de supervivencia mediante la técnica de Kaplan Meier. Se revisan las historias clínicas de 42 pacientes con diagnóstico de cáncer renal de células claras (CRCC) metastásico tratados con el inhibidor de tirosin quinasa Sunitinib en el servicio de Oncología del Hospital Carlos Andrade Marín durante el período comprendido entre el primero de enero de 2010 y 31 de diciembre de 2012 para obtener variables clínicas y realizar análisis de supervivencia. Resultados: 42 pacientes analizados con cáncer renal metastásico de células claras, 22 de ellos recibieron tratamiento con Sunitinib y 20 no recibieron este tratamiento, encontrando que la mediana de sobrevida para el grupo de pacientes tratados con Sunitinib fue de 16 meses versus 4,5 meses para los pacientes que no recibieron. La mediana del tiempo de progresión en el grupo de Sunitinib fue de 6 meses. Conclusiones: los resultados del análisis de tiempo de progresión en los pacientes tratados con Sunitinib fue similar a los estudios de referencia y guías de manejo oncológicos internacionales. En términos de sobrevida se obtuvo un resultado favorable sin embargo, los resultados aún no son concluyentes.

Introduction: the clear cell renal cell carcinoma (CRCC) is the most common cancer of the kidney, at the time of diagnosis 30% of patients have metastases and 40% are in disease recurrence. It is highly resistant to chemotherapy and poor responses were evidenced with the interleukins and interferon before use, so that the current target therapy with tyrosine kinase inhibitors were used. The objective of this study is to determine the survival and time to progression in patients with metastatic CRCC treated with Sunitinib. Materials and methods: retrospective study by Kaplan Meier technique, using the statistical package Epi Info 3.5, in patients with metastatic CRCC evaluated in the oncology department in the period between january 2010 and december 2012. Results: 42 patients with CRCC clear cell were analyzed, 22 of them were treated with Sunitinib and 20 did not receive this treatment. Findings show that the median survival for the group of patients treated with Sunitinib was 16 months versus 4.5 months for patients who did not. The median time to progression in the Sunitinib was 6 months. Conclusions: the results of the analysis of time of progression in patients treated with Sunitinib were similar at baseline and according to international oncology management guidelines. Favorable results were obtained in terms of survival; however results still are inconclusive.

Angiomiolipoma renal: ¿es siempre un tumor benigno? / Renal angiomyolipoma: Is it always a benign tumor?

El angiomiolipoma (AML) renal es un tumor sólido compuesto por células de músculo liso, vasos sanguíneos dismórfi cos y tejido adiposo. Esta lesión ha sido considerada siempre como una neoplasia benigna. Reportamos a una paciente de 44 años, asintomática, con una lesión sugerente de AML mayor a 4 cm en el TAC que fue sometida a nefrectomía parcial abierta. La biopsia definitiva informó un angiomiolipoma con componente epiteloídeo focal (AMLE). Controles de imágenes posteriores de esta paciente no han evidenciado recidivia. El angiomiolipoma epiteloídeo (AMLE) es una variante descrita en los últimos años y que sugiere un cambio en el paradigma clásico de “benignidad” asociada al AML Las guías para el manejo de los AML no toman en cuenta la posibilidad de que se trate de un AMLE en sus recomendaciones. Existe muy poca información respecto al manejo de este tipo de lesiones, sólo hay series de casos publicadas. Faltan estudios prospectivos que otorguen herramientas para la toma de decisiones terapéuticas adecuadas en estos pacientes.

Renal angiomyolipoma (AML) is a solid tumor formed by smooth muscle cells, dimorphic blood vessels and adipose tissue. This lesion has been always considered as a benign neoplasm. We report an asymptomatic 44 year-old female patient, with a tumor suggesting an AML in a CT scan greater than 4 cms, who had an open partial nephrectomy. The biopsy report showed an AML with a focal epithelioid component. Follow-up imaging in this case has not showed any recurrence. Epithelioid angiomyolipoma (EAML) is a variant with malignant potential that must be considered when a patient with a renal AML is been evaluated. Guidelines for AML management do not take AMLE as a differential diagnosis. Few studies have been published regarding the management of this kind of lesion, only consisting of case series. There is lack of prospective studies that could give tools for the decision-making process in the treatment of these patients.

A 6-year-old girl with vaginal spotting who was diagnosed with perivascular epithelioid cell neoplasm after vaginoscopic resection

Perivascular epithelioid cell neoplasm (PEComa) is a rare tumor with unknown malignant potential. We report a case of a 6-year-old child with history of brain tumor (pineoblastoma), who presented with intermittent vaginal spotting for 6 months. A vaginoscopy revealed a 1.5x1.0-cm mass on the vaginal wall. Pathological examination demonstrated that the tumor was composed of clear cells with organoid patterns, which were immunohistochemically positive for HMB-45 and TFE3, and negative for CK, HNF1-B, SOX10, Melan A, and S-100 protein. These findings were consistent with PEComa arising from the vagina. Regular follow-up with magnetic resonance imaging has shown no signs of recurrence. This case shows that early detection of PEComa and subsequent regular follow-ups are important because of the neoplasm's unknown malignant potential.