Cancer predisposition genes in Japanese children with rhabdomyosarcoma.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
received:
06
04
2021
accepted:
04
07
2021
revised:
15
06
2021
pubmed:
15
7
2021
medline:
22
3
2022
entrez:
14
7
2021
Statut:
ppublish
Résumé
Rhabdomyosarcoma (RMS) is one of the most common soft tissue sarcomas in children. Germline mutations in cancer-predisposition genes have been detected in approximately 10% of pediatric cancers. However, the genetic background of RMS is still unclear, especially in Asian children. DNA was extracted from the peripheral blood of children with RMS and cancer-associated genes analyzed using targeted re-sequencing. Twenty patients participated in this study. There were three deaths due to RMS. One patient developed a second neoplasm. Nine patients had long-term co-morbidities. Six pathogenic variants were found in five patients: one nonsense variant of DICER1, one exon deletion of TP53, and three missense variants of BUB1B, LIG4, and MEN1. Two of the five patients had a family history of cancer. Two patients with missense variants of LIG4 had long-term co-morbidities of drug-induced cardiomyopathy. The missense variants of LIG4, essential for DNA double-strand break repair, were detected in two unrelated patients. While this is the first report of the germline genetic analysis of Japanese children with RMS with detailed clinical information, the frequency of the variant was almost equivalent to that of previous reports from western countries. Unbiased exon sequencing may be useful to clarify the pathogenesis of RMS in children and in predicting the clinical course of these patients.
Identifiants
pubmed: 34257391
doi: 10.1038/s10038-021-00961-7
pii: 10.1038/s10038-021-00961-7
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
35-41Subventions
Organisme : Japan Society for the Promotion of Science London (JSPS London)
ID : 17K16239
Informations de copyright
© 2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics.
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