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Tubulocystic renal cell carcinoma: a distinct clinicopathologic entity with a characteristic genomic profile
- Source :
- Mod Pathol
- Publication Year :
- 2018
-
Abstract
- Tubulocystic renal cell carcinoma, a unique tumor, was recently included as a new entity in the World Health Organization classification of renal tumors. It has variably been reported to be related to other renal cell carcinomas, including papillary renal cell carcinoma, fumarate hydratase-deficient carcinoma, and others, likely because many such carcinomas may show variable amounts of tubulocystic architecture. The published data characterizing the molecular features of these tumors are inconsistent. We studied nine "pure" tubulocystic renal cell carcinomas, as defined by International Society of Urologic Pathologists (ISUP) and World Health Organization (WHO), by targeted next-generation sequencing, and fluorescence in situ hybridization for X and Y chromosomes, to investigate if these show any unique characteristics or any overlap with known mutational/molecular profiles or copy number alterations in other subtypes of renal cell carcinoma. All nine tubulocystic carcinomas demonstrated combined losses at chromosome 9 and gains at chromosome 17, as well as, loss of chromosome Y (in 5/5). None of the tumors showed mutational profiles characteristic of other renal neoplasms, including those seen in fumarate hydratase-deficient renal cell carcinoma. Recurrent mutations in chromatin-modifying genes, KMT2C and KDM5C, were detected in two of nine tumors. Thus, tubulocystic renal cell carcinoma, if defined strictly, at the clinical and pathologic level, demonstrates genomic features distinct from other subtypes of renal cell carcinoma. These findings support the contention that tubulocystic renal cell carcinoma should be diagnosed only using strict morphological criteria and only when presenting in a "pure" form; presence of variable papillary, poorly differentiated, or other architectural patterns most likely do not belong to the category of tubulocystic renal cell carcinoma.
- Subjects :
- 0301 basic medicine
Tubulocystic renal cell carcinoma
Adult
Male
Pathology
medicine.medical_specialty
Chromosome 9
Biology
Article
Pathology and Forensic Medicine
Renal neoplasm
03 medical and health sciences
0302 clinical medicine
Renal cell carcinoma
medicine
Carcinoma
Biomarkers, Tumor
Humans
Genetic Predisposition to Disease
Carcinoma, Renal Cell
Aged
Chromosome Aberrations
Histone Demethylases
Chromosomes, Human, X
Chromosomes, Human, Y
Papillary renal cell carcinomas
medicine.diagnostic_test
Gene Amplification
Middle Aged
medicine.disease
Kidney Neoplasms
United States
Chromosome 17 (human)
DNA-Binding Proteins
030104 developmental biology
Phenotype
030220 oncology & carcinogenesis
Mutation
Female
Neoplasms, Cystic, Mucinous, and Serous
Transcriptome
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 15300285
- Volume :
- 32
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
- Accession number :
- edsair.doi.dedup.....8e6bb562fe2b5810c8c45062660b4a97