Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
Chromosomal numerical aberration pattern
Fumarate hydratase deficient renal cell carcinoma
Kidney
Journal
Annals of diagnostic pathology
ISSN: 1532-8198
Titre abrégé: Ann Diagn Pathol
Pays: United States
ID NLM: 9800503
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
22
01
2019
accepted:
08
02
2019
pubmed:
21
2
2019
medline:
31
10
2019
entrez:
21
2
2019
Statut:
ppublish
Résumé
Hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma (HLRCC)/fumarate hydratase deficient renal cell carcinoma (FHRCC) is defined by molecular genetic changes (mutation/LOH in fumarate hydratase (FH) gene). We investigated chromosomal numerical aberration pattern (CNV) in FHRCC/HLRCC using array comparative genomic hybridization analysis and low pass whole genome sequencing. Genetic analysis was successfully completed in 12 tumors. Most common chromosomal aberrations detected were a complete or partial loss of chromosome 4 (5/12 cases), chromosome 15 (4/12 cases), and chromosomes 9, 13, and 14 (each in 3/12 cases), as well as a complete or partial gain of chromosome 17 (in 4/12 cases). No chromosomal losses or gains were detected in 4 cases. Copy number variation pattern in FHRCC/HLRCC appears to be highly variable and does not provide a useful diagnostic tool in identifying these cases. Immunohistochemical staining and especially molecular genetic evaluation of FH gene mutations/LOH remain the gold standard in identifying FHRCC/HLRCC.
Identifiants
pubmed: 30785029
pii: S1092-9134(19)30031-0
doi: 10.1016/j.anndiagpath.2019.02.008
pii:
doi:
Substances chimiques
Fumarate Hydratase
EC 4.2.1.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
63-68Informations de copyright
Copyright © 2019. Published by Elsevier Inc.