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Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases

Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases

Authors :
Cristina Magi-Galluzzi
Michal Michal
Petr Grossmann
Anthony J. Gill
Sarka Skalova
Kristyna Pivovarcikova
Maria Pane Foix
Milan Hora
Joanna Rogala
Tamás Micsik
Boris Rychly
Jana Mareckova
Tomáš Pitra
Kvetoslava Michalova
Jiri Polivka
Reza Alaghehbandan
Daniel M. Berney
Ozlem Tanas Isikci
Ondrej Hes
Kiril Trpkov
Petr Martinek
Enric Condom Mundo
Source :
Annals of Diagnostic Pathology. 39:63-68
Publication Year :
2019
Publisher :
Elsevier BV, 2019.

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.

Details

ISSN :
10929134
Volume :
39
Database :
OpenAIRE
Journal :
Annals of Diagnostic Pathology
Accession number :
edsair.doi.dedup.....a2069df31d53c73526f02da4a9215b56
Full Text :
https://doi.org/10.1016/j.anndiagpath.2019.02.008