Evidence map›Paper›PMID 40090716›Full record

ArticleInternal medicine (Tokyo, Japan)2025

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

Fumiaki Matsumura, Tatsuhiro Sakamoto, Hirayasu Kai, Toshiaki Usui, Kunio Kawanishi, Ryota Matsuoka, Kantaro Ishitsuka, Kenichi Makishima, Sakurako Suma, Yumiko Maruyama and 10 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Birt-Hogg-Dubé Syndrome and Multiple Myeloma?Internal medicine (Tokyo, Japan) · 2026
    Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Fumiaki MatsumuraDepartment of Hematology, University of Tsukuba Hospital, Japan.
Tatsuhiro SakamotoDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Hirayasu KaiIbaraki Clinical Education and Training Center, Institute of Medicine, University of Tsukuba Hospital, Japan.
Toshiaki UsuiDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Kunio KawanishiDepartment of Experimental Pathology, Institute of Medicine, University of Tsukuba, Japan.
Ryota MatsuokaDepartment of Diagnostic Pathology, Institute of Medicine, University of Tsukuba, Japan.
Kantaro IshitsukaDepartment of Hematology, University of Tsukuba Hospital, Japan.
Kenichi MakishimaDepartment of Hematology, University of Tsukuba Hospital, Japan.
Sakurako SumaDepartment of Hematology, University of Tsukuba Hospital, Japan.
Yumiko MaruyamaDepartment of Hematology, University of Tsukuba Hospital, Japan.
Takayasu KatoDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Naoki KuritaDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Keiichiro HattoriDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Yasuhito SueharaDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Hidekazu NishikiiDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Naoshi ObaraDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Joichi UsuiDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Daisuke MatsubaraDepartment of Diagnostic Pathology, Institute of Medicine, University of Tsukuba, Japan.
Kunihiro YamagataDepartment of Nephrology, Institute of Medicine, University of Tsukuba, Japan.
Mamiko Sakata-YanagimotoDepartment of Hematology, Institute of Medicine, University of Tsukuba, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Birt-Hogg-Dube SyndromeMultiple MyelomaFemaleGerm-Line MutationHumansMiddle AgedProto-Oncogene ProteinsTumor Suppressor ProteinsFLCN protein, humanProto-Oncogene ProteinsTumor Suppressor ProteinsBirt-Hogg-Dubé syndromedaratumumabfolliculinhippo-YAP pathwaymultiple myeloma

Identifiers

PMID40090716
PMCPMC12508637

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.