Whole-Exome Sequencing Revealed a Pathogenic Germline Variant in the Fumarate Hydratase Gene, Leading to the Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer

The diagnosis of hereditary skin tumors is difficult for "old" diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a "new" diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomat...

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Bibliographic Details
Published in:Diagnostics (Basel) 2024-06, Vol.14 (12), p.1279
Main Authors: Nagashima, Akari, Morimura, Sohshi, Hamada, Toshihisa, Shiomi, Takayuki, Mori, Ichiro, Sato, Naoko, Nomoto, Junko, Tanaka, Masaki, Tsuji, Shoji, Sugaya, Makoto
Format: Article
Language:English
Subjects:
Biomarkers
Cancer
Case Report
Development and progression
Diagnostic imaging
Family medical history
Fibroids
fumarate hydratase
Genes
Genetic aspects
Genetic disorders
Health aspects
Hysterectomy
Immunohistochemistry
Informed consent
Kidney cancer
Leukocytes
Medical imaging
Medical prognosis
multiple leiomyomas
Mutation
next-generation sequencing
Patients
renal cell cancer
Review boards
Skin
Skin cancer
Smooth muscle
Tumors
Ultrasonic imaging
uterine myomas
whole-exome sequencing
Women
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Summary:The diagnosis of hereditary skin tumors is difficult for "old" diagnostic tools such as immunohistochemistry. Whole-exome sequencing analysis as a "new" diagnostic tool enables us to make a final diagnosis in spite of unknown hereditary diseases in the past. Hereditary leiomyomatosis and renal cell cancer are autosomal dominant hereditary cancer syndromes characterized by uterine myomas, cutaneous leiomyomas, and aggressive renal cell cancer. The syndrome is associated with pathogenic germline variants in the fumarate hydratase gene. Herein, we demonstrate a pathogenic germline variant of the fumarate hydratase gene in a 60-year-old woman with multiple cutaneous leiomyomas, leading to the diagnosis of hereditary leiomyomatosis and renal cell cancer. Whole-exome sequencing analysis using genomic DNA extracted from peripheral blood leukocytes revealed one germline variant in the FH gene on chromosome 1 (c.290G>A, p.Gly97Asp). She received total hysterectomy due to uterine myoma, which strongly supported the diagnosis. No tumor was detected in her kidney by computed tomography and ultrasound examination. Genetic examination for the mutation of the fumarate hydratase gene is important in order to reach the correct diagnosis and to detect renal cancer at its early stage.
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics14121279