Clear-cell variant of superficial cutaneous leiomyosarcoma associated with RB1 mutation: Clinical,dermoscopic, and histopathological characteristics |
| |
Authors: | Laura Atzori Luca Pilloni Ramona Zanniello Caterina Ferreli Franco Rongioletti |
| |
Affiliation: | 1. Dermatology Clinic, Department Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy;2. Pathology Unit, Department Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy |
| |
Abstract: | Leiomyosarcoma is a relatively rare soft tissue tumor whose clear-cell variant has only been reported in leiomyosarcomas of the uterus. We report here for the first time a primary cutaneous clear-cell leiomyosarcoma in the trunk skin of a 49-year-old man, characterized by a very indolent clinical and dermoscopic presentation, mimicking a dermatofibroma. Genetic analysis of the otherwise healthy patient revealed a germline mutation in the retinoblastoma 1 gene (RB1); the same mutation was found in his son, who had previously developed retinoblastoma. Moreover, the mother of the patient had died of uterine leiomyosarcoma with clear-cell changes. Mutations in the RB1 gene occur commonly in human neoplasms. In this patient, we were able to link his clear-cell variant of cutaneous leiomyosarcoma with the loss of retinoblastoma protein expression, as revealed by immunohistochemical staining analysis. |
| |
Keywords: | clear-cell leiomyosarcoma dermoscopy RB1 gene mutation superficial cutaneous leiomyosarcoma |
|
|