Preservation of truncal genomic alterations in clear cell and papillary renal cell carcinomas with sarcomatoid features: An intra- and intertumoral, multifocal fluorescence in situ hybridization analysis reveals limited genetic heterogeneity

Joseph M. Sanfrancesco, John N. Eble, David J. Grignon, Mingsheng Wang, Shaobo Zhang, Chandru P. Sundaram, Muhammad T. Idrees, Roberto Pili, Erik Kouba, Liang Cheng

Research output: Contribution to journalArticle

3 Scopus citations


Understanding tumor genomic heterogeneity may offer vital information in an age of targeted therapy for renal cell carcinoma. We sought to investigate hallmark truncal chromosomal alterations between conventional, sarcomatoid, and matched metastatic tumor foci in clear cell and papillary renal cell carcinomas. A retrospective review identified 58 cases including clear cell (CCRCC) and papillary renal cell carcinomas (PRCC). All cases contained sarcomatoid transformation. Additionally, 10 of 58 patients had matched metastatic disease available for analysis. Three separate foci of conventional and sarcomatoid morphologies were analyzed in each tumor using dual color interphase fluorescence in situ hybridization. In the CCRCC cohort, hallmark chromosome 3p deletion was identified in 71% of cases (37/52). Complete concordance of chromosomal status between intratumoral foci in sarcomatoid and conventional foci was 89% and 86%, respectively. Overall chromosome 3p status between matched conventional and sarcomatoid morphologies was identified in 98% of cases (51/52). Hallmark 3p deletion was present in 91% of CCRCC metastatic samples (10/11) and was concordant with the matched primary CCRCC tumor in 91% (10/11). In the PRCC cohort, trisomy 7 and 17 was identified in all six cases (6/6). Complete concordance between intratumoral foci of trisomy 7 and 17 was 83% (5/6). Trisomy 7 and 17 were identified in all metastatic PRCC samples with 100% concordance with the matched primary tumor. These data show the relative preservation of truncal chromosomal abnormalities between conventional and sarcomatoid morphologic as well as matched metastatic settings.

Original languageEnglish (US)
Pages (from-to)2527-2537
Number of pages11
JournalMolecular Carcinogenesis
Issue number11
StatePublished - Nov 2017



  • differential diagnosis
  • fluorescence in situ hybridization (FISH)
  • kidney
  • molecular genetics/cytogenetics
  • precision medicine
  • sarcomatoid renal cell carcinoma

ASJC Scopus subject areas

  • Molecular Biology
  • Cancer Research

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