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Войти в исследования Annals of diagnostic pathology · 2019
Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases.
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Pivovarcikova Kristyna, Martinek Petr, Grossmann Petr, Trpkov Kiril, Alaghehbandan Reza, Magi-Galluzzi Cristina, Pane Foix Maria, Condom Mundo Enric, Berney Daniel, Gill Anthony, Rychly Boris, Michalova Kvetoslava, Rogala Joanna, Pitra Tomas, Micsik Tamas, Polivka Jiri, Hora Milan, Tanas Isikci Ozlem, Skalova Sarka, Mareckova Jana, Michal Michal, Hes Ondrej
Аннотация
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.