Tubulocystic renal cell carcinoma: A distinct clinicopathologic entity with a characteristic genomic profile Journal Article
| Authors: | Sarungbam, J.; Mehra, R.; Tomlins, S. A.; Smith, S. C.; Jayakumaran, G.; Al-Ahmadie, H.; Gopalan, A.; Sirintrapun, S. J.; Fine, S. W.; Zhang, Y.; Amin, M. B.; Reuter, V. E.; Chen, Y. B.; Tickoo, S. K. |
| Article Title: | Tubulocystic renal cell carcinoma: A distinct clinicopathologic entity with a characteristic genomic profile |
| 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. © 2019, United States & Canadian Academy of Pathology. |
| Keywords: | adult; clinical article; aged; unclassified drug; protein p53; renal cell carcinoma; fluorescence in situ hybridization; histone methyltransferase; gene identification; x chromosome; world health organization; chromosome 17; fumarate hydratase; y chromosome; histone lysine methyltransferase; chromosome 9; histone demethylase; tubulocystic renal cell carcinoma; next generation sequencing; modifier gene; kelch like ech associated protein 1; human; male; female; priority journal; article; genetic profile; f box/wd repeat containing protein 7; lysine demethylase 5c; lysine n methyltransferase |
| Journal Title: | Modern Pathology |
| Volume: | 32 |
| Issue: | 5 |
| ISSN: | 0893-3952 |
| Publisher: | Nature Research |
| Date Published: | 2019-05-01 |
| Start Page: | 701 |
| End Page: | 709 |
| Language: | English |
| DOI: | 10.1038/s41379-018-0185-5 |
| PUBMED: | 30622286 |
| PROVIDER: | scopus |
| PMCID: | PMC7549436 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 3 June 2019 -- Source: Scopus |
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487Tickoo -
421Gopalan -
402Chen -
468Fine -
667Al-Ahmadie -
1234Reuter -
202Sirintrapun -
93Sarungbam -
45Jayakumaran -
206Zhang
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