Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Pancreas: First Report in Patient with BRCA2 Mutation.
Najat Mourra, Thierry Lazure, Francois Paye, Christelle Colas, Lionel Arrive, Aimery de Gramont, Jean-Francois Flejou. Hop. St-Antoine, Paris, France; Hop. Kremlin Bicêtre, Kremlin-Bicêtre, France, Metropolitan
Background: PEComas (perivascular epithelioid cell tumors) encompass a group of rare mesenchymal neoplasms, sharing cellular characteristics of perivascular epithelioid cells and distinctive immunophenotypic features of both muscular and melanocytic differentiation. They have been found in numerous anatomic sites throughout the body with a striking female predominance, even after excluding PEComas arising in gender-specific sites. Pancreatic PEComas are exceedingly rare neoplasms, only five cases have been described before, all were benign and occurring in women.We report the first malignant pancreatic PEComa, which is the first one occurring in patient with BRCA2 mutation.
Design: A 51-year-old woman with a recent history of jaundice (1 month) complained of right hypochondric pain and prurit. Her medical history was remarkable for bilateral ductal breast adenocarcinoma treated with surgery, chemotherapy and irradiation in 2003. She was tested positive for BRCA2 mutation, and preventive bilateral oophorectomy was performed. Imaging studies (Ultrasound, CT-scan and MRI) showed dilatation of common and intrahepatic bile ducts related to an intrapancreatic mass, consistent with endocrine or secondary tumor.
Results: Endoscopic ultrasound guided biopsy demonstrated a neoplasm with microscopic and immunophenotypic features typical of PEComa. Pathologic examination of Wipple procedure confirmed the diagnosis of a 6 cm intrapancreatic PEComa with abundant granular eosinophilic cytoplasm and eccentric nuclei with few mitotic figures (2/50 HPF).Tumor cells were strongly positive on immunohistochemistry with Hmb45 and negative for all other markers, including muscular ones. The tumor invaded duodenal wall with extensive necrosis and vascular invasion, leading to classify this PEComa into “malignant” category, according to Folpe's classification. The patient received no adjuvant therapy and she is still alive and well after 7 months of follow-up.
Conclusions: Carriers of BRCA2 mutations, who are at very high risk for hereditary breast and ovarian cancer, also face an increased risk of pancreatic adenocarcinoma compared with the general population. PEComas has never been described in BRCA mutation carriers before, but BRCA mutations were not tested in the previously reported pancreatic PEComas. Furthermore, the undertaking of preventive mastectomy and oophorectomy by female BRCA1/2 carriers may “unveil” more pancreatic tumors in these families, including a novel member such as PEComas, emphasizing the need for close lifelong surveillance.
Category: Liver & Pancreas
Tuesday, March 1, 2011 1:00 PM
Poster Session IV # 216, Tuesday Afternoon