Fumarate hydratase deficient renal cell carcinoma: Chromosomal numerical aberration analysis of 12 cases
Language English Country United States Media print-electronic
Document type Journal Article
PubMed
30785029
DOI
10.1016/j.anndiagpath.2019.02.008
PII: S1092-9134(19)30031-0
Knihovny.cz E-resources
- Keywords
- Chromosomal numerical aberration pattern, Fumarate hydratase deficient renal cell carcinoma, Kidney,
- MeSH
- Chromosome Aberrations * MeSH
- Adult MeSH
- Fumarate Hydratase deficiency MeSH
- Carcinoma, Renal Cell genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Kidney Neoplasms genetics MeSH
- Whole Genome Sequencing MeSH
- Comparative Genomic Hybridization MeSH
- DNA Copy Number Variations MeSH
- Loss of Heterozygosity MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Fumarate Hydratase MeSH
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.
1st Department of Pathology and Experimental Cancer Research Semmelweis University Budapest Hungary
Bart's Cancer Center London United Kingdom
Calgary Laboratory Services and University of Calgary Calgary AB Canada
Department of Pathology Ankara Training and Research Hospital Ankara Turkey
Department of Pathology Cytopathos Bratislava Slovakia
Department of Pathology Regional Specialist Hospital Wroclaw Poland
Department of Pathology School of Medicine University of Alabama Birmingham AL USA
Department of Urology Charles University Prague Faculty of Medicine in Plzeň Pilsen Czech Republic
References provided by Crossref.org
Molecular Genetics of Renal Cell Tumors: A Practical Diagnostic Approach
