A Case of Multiple Myeloma in a Patient with Birt-Hogg-Dube Syndrome.

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Tác giả: Keiichiro Hattori, Kantaro Ishitsuka, Hirayasu Kai, Takayasu Kato, Kunio Kawanishi, Naoki Kurita, Kenichi Makishima, Yumiko Maruyama, Daisuke Matsubara, Fumiaki Matsumura, Ryota Matsuoka, Hidekazu Nishikii, Naoshi Obara, Tatsuhiro Sakamoto, Mamiko Sakata-Yanagimoto, Yasuhito Suehara, Sakurako Suma, Joichi Usui, Toshiaki Usui, Kunihiro Yamagata

Ngôn ngữ: eng

Ký hiệu phân loại: 133.594 Types or schools of astrology originating in or associated with a

Thông tin xuất bản: Japan : Internal medicine (Tokyo, Japan) , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 718859

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.
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