Internal medicine (Tokyo, Japan) · 2025
Multiple Myeloma in a Patient with Birt-Hogg-Dubé Syndrome.
СтатьяКлинический случайНазвание и аннотация: Перевод пока не подготовлен
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Matsumura Fumiaki, Sakamoto Tatsuhiro, Kai Hirayasu, Usui Toshiaki, Kawanishi Kunio, Matsuoka Ryota, Ishitsuka Kantaro, Makishima Kenichi, Suma Sakurako, Maruyama Yumiko, Kato Takayasu, Kurita Naoki, Hattori Keiichiro, Suehara Yasuhito, Nishikii Hidekazu, Obara Naoshi, Usui Joichi, Matsubara Daisuke, Yamagata Kunihiro, Sakata-Yanagimoto Mamiko
Аннотация
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease caused by germline folliculin (FLCN) mutations and it is characterized by skin folliculomas, pulmonary cysts, and renal cell carcinomas (RCC). We herein report the first case of a female patient with BHDS who was diagnosed with multiple myeloma. Daratumumab-based treatment was effective, and the patient remained responsive for over three years. Whole-exome sequencing confirmed an FLCN germline mutation and nine somatic mutations, including an MPDZ mutation, which is a component of the tumor-suppressive Hippo-YAP pathway. Considering the reported association between the Hippo-YAP pathway and RCC with BHDS, an MPDZ mutation may contribute to carcinogenesis in patients with BHDS.