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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
- 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.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
DNA Copy Number Variations
Loss of Heterozygosity
Gene mutation
Biology
urologic and male genital diseases
medicine.disease_cause
Fumarate Hydratase
Pathology and Forensic Medicine
Chromosome 15
Renal cell carcinoma
medicine
Humans
Copy-number variation
Carcinoma, Renal Cell
Chromosome Aberrations
Comparative Genomic Hybridization
Mutation
Whole Genome Sequencing
General Medicine
Middle Aged
medicine.disease
Molecular biology
Kidney Neoplasms
Chromosome 17 (human)
Chromosome 4
Female
Comparative genomic hybridization
Subjects
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