Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma (BHP RCC): A Distinctive Neoplasm Associated With Somatic NF2 Mutations.

摘要: We report 8 cases of a distinctive, previously undescribed renal cell carcinoma associated with somatic mutations in the neurofibromin 2 (NF2) gene. All patients were adults, ranging from 51 to 78 years age and known sex 6 7 males. The carcinomas predominantly unencapsulated, all had rounded, nodular interface native kidney. neoplasms solid papillary architecture evident most (7/8), while 1 was only tubular. biphasic, characterized by larger smaller cells. cells clustered around basement membrane material similar characteristic pattern t(6;11) TFEB gene fusions. In carcinomas, branching nodules small within acini yielding distinctive glomeruloid pattern. focally spindle-shaped unassociated material. stroma sclerotic contained psammoma bodies that abundant 2. some focal or predominant areas less appearance; resembled clear carcinoma, high-grade eosinophilic areas, tubular mucinous spindle carcinoma. Two demonstrated cellular necrosis. Although we have minimal clinical follow-up, case presented distant metastasis, progressed resulted patient death. While NF2 may be found other established subtypes (often as secondary genetic alterations), they are potentially driver this entity.