Molecular genetic alterations in renal cell carcinomas with tubulocystic pattern: tubulocystic renal cell carcinoma, tubulocystic renal cell carcinoma with heterogenous component and familial leiomyomatosis-associated renal cell carcinoma. Clinicopathologic and molecular genetic analysis of 15 cases

Monika Ulamec, Faruk Skenderi, Ming Zhou, Božo Krušlin, Petr Martínek, Petr Grossmann, Kvetoslava Peckova, Isabel Alvarado-Cabrero, Kristyna Kalusova, Bohuslava Kokoskova, Pavla Rotterova, Milan Hora, Ondrej Daum, Magdalena Dubova, Kevin Bauleth, David Slouka, Maris Sperga, Whitney Davidson, Boris Rychly, Delia Perez MontielMichal Michal, Ondrej Hes

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

The characteristic morphologic spectrum of tubulocystic renal cell carcinoma (TC-RCC) may include areas resembling papillary RCC (PRCC). Our study includes 15 RCCs with tubulocystic pattern: 6 TC-RCCs, 1 RCC-high grade with tubulocystic architecture, 5 TC-RCCs with foci of PRCC, 2 with high-grade RCC (HGRCC) not otherwise specified, and 1 with a clear cell papillary RCC/renal angiomyoadenomatous tumor-like component. We analyzed aberrations of chromosomes 7, 17, and Y; mutations of VHL and FH genes; and loss of heterozygosity at chromosome 3p. Genetic analysis was performed separately in areas of classic TC-RCC and in those with other histologic patterns. The TC-RCC component demonstrated disomy of chromosome 7 in 9/15 cases, polysomy of chromosome 17 in 7/15 cases, and loss of Y in 1 case. In the PRCC component, 2/3 analyzable cases showed disomy of chromosome 7 and polysomy of chromosome 17 with normal Y. One case with focal HGRCC exhibited only disomy 7, whereas the case with clear cell papillary RCC/renal angiomyoadenomatous tumor-like pattern showed polysomies of 7 and 17, mutation of VHL, and loss of heterozygosity 3p. FH gene mutation was identified in a single case with an aggressive clinical course and predominant TC-RCC pattern. The following conclusions were drawn: (1) TC-RCC demonstrates variable status of chromosomes 7, 17, and Y even in cases with typical/uniform morphology. (2) The biological nature of PRCC/HGRCC-like areas within TC-RCC remains unclear. Our data suggest that heterogenous TC-RCCs may be associated with an adverse clinical outcome. (3) Hereditary leiomyomatosis-associated RCC can be morphologically indistinguishable from "high-grade" TC-RCC; therefore, in TC-RCC with high-grade features FH gene status should be tested.

Original languageEnglish (US)
Pages (from-to)521-530
Number of pages10
JournalApplied Immunohistochemistry and Molecular Morphology
Volume24
Issue number7
DOIs
StatePublished - Jan 1 2016

Keywords

  • chromosomal aberration
  • hereditary leiomyomatosis-associated renal cell carcinoma
  • kidney
  • papillary renal cell carcinoma
  • tubulocystic renal cell carcinoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Medical Laboratory Technology

Fingerprint Dive into the research topics of 'Molecular genetic alterations in renal cell carcinomas with tubulocystic pattern: tubulocystic renal cell carcinoma, tubulocystic renal cell carcinoma with heterogenous component and familial leiomyomatosis-associated renal cell carcinoma. Clinicopathologic and molecular genetic analysis of 15 cases'. Together they form a unique fingerprint.

  • Cite this

    Ulamec, M., Skenderi, F., Zhou, M., Krušlin, B., Martínek, P., Grossmann, P., Peckova, K., Alvarado-Cabrero, I., Kalusova, K., Kokoskova, B., Rotterova, P., Hora, M., Daum, O., Dubova, M., Bauleth, K., Slouka, D., Sperga, M., Davidson, W., Rychly, B., ... Hes, O. (2016). Molecular genetic alterations in renal cell carcinomas with tubulocystic pattern: tubulocystic renal cell carcinoma, tubulocystic renal cell carcinoma with heterogenous component and familial leiomyomatosis-associated renal cell carcinoma. Clinicopathologic and molecular genetic analysis of 15 cases. Applied Immunohistochemistry and Molecular Morphology, 24(7), 521-530. https://doi.org/10.1097/PAI.0000000000000213