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.
Authors
- Fumiaki Matsumura
- Yumiko Maruyama (ORCID: https://orcid.org/0000-0003-1410-0830)
- Kunio Kawanishi (ORCID: https://orcid.org/0000-0003-3502-3467)
- Kenichi Makishima (ORCID: https://orcid.org/0000-0002-5808-816X)
- Daisuke Matsubara (ORCID: https://orcid.org/0000-0002-6233-6840)
- Ryota Matsuoka (ORCID: https://orcid.org/0000-0002-8887-1593)
- Naoki Kurita (ORCID: https://orcid.org/0000-0002-1283-4307)
- Toshiaki Usui
- Kantaro Ishitsuka
- Hirayasu Kai (ORCID: https://orcid.org/0000-0002-4486-819X)
- Sakurako Suma (ORCID: https://orcid.org/0000-0003-2491-3798)
- Tatsuhiro Sakamoto (ORCID: https://orcid.org/0000-0001-6852-0721)
- Yasuhito Suehara (ORCID: https://orcid.org/0000-0001-7046-2196)
- Naoshi Obara (ORCID: https://orcid.org/0000-0001-6563-3093)
- Keiichiro Hattori (ORCID: https://orcid.org/0000-0002-0810-7887)
- Kunihiro Yamagata (ORCID: https://orcid.org/0000-0002-7407-0410)
- Joichi Usui
- Hidekazu Nishikii (ORCID: https://orcid.org/0000-0002-6277-4082)
- Takayasu Kato (ORCID: https://orcid.org/0000-0002-0914-7557)
- Mamiko Sakata-Yanagimoto
Institutions
- SHOWA Medical University (JP)
- University of Tsukuba (JP)
- University of Tsukuba Hospital (JP)
- Ibaraki Prefectural Central Hospital (JP)
Publication Details
- Journal
- Internal Medicine
- Published
- 2025-03-14
- DOI
- https://doi.org/10.2169/internalmedicine.4985-24
- Citations
- 3
- Primary Topic
- Renal cell carcinoma treatment
- Type
- article
- Field-Weighted Citation Impact
- 4.56