1. Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
- Author
-
Pivovarcikova K, Martinek P, Grossmann P, Trpkov K, Alaghehbandan R, Magi-Galluzzi C, Pane Foix M, Condom Mundo E, Berney D, Gill A, Rychly B, Michalova K, Rogala J, Pitra T, Micsik T, Polivka J, Hora M, Tanas Isikci O, Skalova S, Mareckova J, Michal M, and Hes O
- Subjects
- Adult, Comparative Genomic Hybridization, DNA Copy Number Variations, Female, Humans, Loss of Heterozygosity, Male, Middle Aged, Whole Genome Sequencing, Carcinoma, Renal Cell genetics, Chromosome Aberrations, Fumarate Hydratase deficiency, Kidney Neoplasms genetics
- Abstract
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., (Copyright © 2019. Published by Elsevier Inc.)
- Published
- 2019
- Full Text
- View/download PDF