Crocetti Daniele, Pedullà Giuseppe, Tarallo Maria Rita, De Gori Antonietta, Paliotta Annalisa, Cavallaro Giuseppe, De Toma Giorgio
Ann Ital Chir. 2014 Mar-Apr;85(2):184-8.
Perivascular epithelioid cell tumors (PEComas), make up a family of extremely rare mesenchymal neoplasms, with characteristic morphological, immunohistochemical and molecular findings. Malignant PEComas and gastrointestinal epithelioid angiomyolipoma (E-AML) are especially rare. To the best of our knowledge E-AML have not been found in the breast. The difficulty in determining what constitutes optimal therapy for PEComas, owing to the sparse literature available, led us to report this rare case.
We report a case of a 44-year-old woman, with a family history of multiple endocrine neoplasia syndrome (MEN) (gastrinoma, medullary thyroid cancer and parathyroid hyperplasia), affected by PEComa located in the kidney, stomach, ileum, liver and breast.
The renal, gastric, ileal and mammarian tumors were completely resected, with no evidence of local disease. Liver lesions were biopsied. The morphological and immunohistochemical findings confirm the diagnosis of PEComa.
On this basis it is difficult to determine if some E-AML are multifocal tumors or metastatic disease.
血管周上皮样细胞瘤(PEComas)是一类极为罕见的间质性肿瘤,具有独特的形态学、免疫组化及分子特征。恶性PEComas和胃肠道上皮样血管平滑肌脂肪瘤(E-AML)尤为罕见。据我们所知,尚未在乳腺中发现E-AML。由于相关文献稀少,难以确定针对PEComas的最佳治疗方案,因此我们报告了这一罕见病例。
我们报告了一名44岁女性病例,她有多发内分泌肿瘤综合征(MEN)家族史(胃泌素瘤、甲状腺髓样癌和甲状旁腺增生),患有位于肾脏、胃、回肠、肝脏和乳腺的PEComa。
肾脏、胃、回肠和乳腺肿瘤均被完整切除,无局部病变证据。对肝脏病变进行了活检。形态学和免疫组化结果证实为PEComa。
在此基础上,难以确定某些E-AML是多灶性肿瘤还是转移性疾病。