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

Cancer Diagnosis and Pathology Group Kolling Institute of Medical Research and University of Sydney Sydney NSW Australia

Department of Histology and Embryology Charles University Prague Faculty of Medicine in Plzeň Pilsen Czech Republic

Department of Pathology Ankara Training and Research Hospital Ankara Turkey

Department of Pathology Bellvitge Biomedical Research Institut Bellvitge University Hospital University of Barcelona School of Medicine L'Hospitalet de Llobregat Barcelona Spain

Department of Pathology Charles University Prague Faculty of Medicine in Plzeň University Hospital Plzen Pilsen Czech Republic

Department of Pathology Cytopathos Bratislava Slovakia

Department of Pathology Faculty of Medicine University of British Columbia Royal Columbian Hospital Vancouver BC Canada

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

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