伯特-霍格-杜布综合征患者多发性骨髓瘤1例。

IF 1.1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2025-09-15 Epub Date: 2025-03-15 DOI:10.2169/internalmedicine.4985-24

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

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引用次数: 0

摘要

birt - hogg - dub综合征（BHDS）是一种常染色体显性遗传病，由种系卵泡蛋白（FLCN）突变引起，以皮肤卵泡瘤、肺囊肿和肾细胞癌（RCC）为特征。我们在此报告的第一例女性患者BHDS谁被诊断为多发性骨髓瘤。以daratumumab为基础的治疗是有效的，患者在三年多的时间里保持反应。全外显子组测序证实了FLCN种系突变和9个体细胞突变，包括MPDZ突变，这是肿瘤抑制Hippo-YAP通路的一个组成部分。考虑到已报道的Hippo-YAP通路与RCC与BHDS之间的关联，MPDZ突变可能有助于BHDS患者的癌变。

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Multiple Myeloma in a Patient with Birt-Hogg-Dubé Syndrome.

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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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.