Distinct genomic copy number alterations distinguish mucinous tubular and spindle cell carcinoma of the kidney from papillary renal cell carcinoma with overlapping histologic features Journal Article

   

Authors:	Ren, Q.; Wang, L.; Al-Ahmadie, H. A.; Fine, S. W.; Gopalan, A.; Sirintrapun, S. J.; Tickoo, S. K.; Reuter, V. E.; Chen, Y. B.
Article Title:	Distinct genomic copy number alterations distinguish mucinous tubular and spindle cell carcinoma of the kidney from papillary renal cell carcinoma with overlapping histologic features
Abstract:	Mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney is a rare type of renal cell carcinoma that frequently exhibits histologic and immunophenotypic features overlapping with type 1 papillary renal cell carcinoma (PRCC). To clarify molecular attributes that can be used for this difficult differential diagnosis, we sought to delineate the genome-wide copy number alterations in tumors displaying classic histologic features of MTSCC in comparison to the solid variant of type 1 PRCC and indeterminate cases with overlapping histologic features. The study included 11 histologically typical MTSCC, 9 tumors with overlapping features between MTSCC and PRCC, and 6 cases of solid variant of type 1 PRCC. DNA samples extracted from macrodissected or microdissected tumor areas were analyzed for genome-wide copy number alterations using an SNP-array platform suitable for clinical archival material. All cases in the MTSCC group exhibited multiple chromosomal losses, most frequently involving chromosomes 1, 4, 6, 8, 9, 13, 14, 15, and 22, while lacking trisomy 7 or 17. In contrast, cases with overlapping morphologic features of MTSCC and PRCC predominantly showed multiple chromosomal gains, most frequently involving chromosomes 7, 16, 17, and 20, similar to the chromosomal alteration pattern that was seen in the solid variant of type 1 PRCC cases. Morphologic comparison of these molecularly characterized tumors identified histologic features that help to distinguish MTSCC from PRCC, but immunohistochemical profiles of these tumors remained overlapping, including a marker for Hippo-Yes-associated protein signaling. Characteristic patterns of genome-wide copy number alterations strongly support MTSCC and PRCC as distinct entities despite their immunohistochemical and certain morphologic overlap, and help define histologic features useful for the classification of questionable cases. © 2018 Wolters Kluwer Health, Inc.
Keywords:	mucinous tubular and spindle cell carcinoma; papillary renal cell carcinoma; chromosomal aberration; snp array; hippo-yap signaling
Journal Title:	American Journal of Surgical Pathology
Volume:	42
Issue:	6
ISSN:	0147-5185
Publisher:	Lippincott Williams & Wilkins
Date Published:	2018-06-01
Start Page:	767
End Page:	777
Language:	English
DOI:	10.1097/pas.0000000000001038
PROVIDER:	scopus
PUBMED:	29462091
PMCID:	PMC6685145
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85047002192&doi=10.1097%2fPAS.0000000000001038&partnerID=40&md5=05ffe8f2151dc6912de5b18f82fe63f6
Notes:	Article -- Export Date: 1 June 2018 -- Source: Scopus

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