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

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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

Fingerprint

Leiomyomatosis
Renal Cell Carcinoma
Molecular Biology
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 7
Loss of Heterozygosity
Mutation
Genes
Kidney
Cellular Structures
Neoplasms
Chromosomes

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

Cite this

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

In: Applied Immunohistochemistry and Molecular Morphology, Vol. 24, No. 7, 01.01.2016, p. 521-530.

Research output: Contribution to journalArticle

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, Montiel, DP, Michal, M & 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, vol. 24, no. 7, pp. 521-530. https://doi.org/10.1097/PAI.0000000000000213
Ulamec, Monika ; Skenderi, Faruk ; Zhou, Ming ; Krušlin, Božo ; Martínek, Petr ; Grossmann, Petr ; Peckova, Kvetoslava ; Alvarado-Cabrero, Isabel ; Kalusova, Kristyna ; Kokoskova, Bohuslava ; Rotterova, Pavla ; Hora, Milan ; Daum, Ondrej ; Dubova, Magdalena ; Bauleth, Kevin ; Slouka, David ; Sperga, Maris ; Davidson, Whitney ; Rychly, Boris ; Montiel, Delia Perez ; Michal, Michal ; Hes, Ondrej. / 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. In: Applied Immunohistochemistry and Molecular Morphology. 2016 ; Vol. 24, No. 7. pp. 521-530.
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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.",
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T1 - Molecular genetic alterations in renal cell carcinomas with tubulocystic pattern

T2 - 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

AU - Ulamec, Monika

AU - Skenderi, Faruk

AU - Zhou, Ming

AU - Krušlin, Božo

AU - Martínek, Petr

AU - Grossmann, Petr

AU - Peckova, Kvetoslava

AU - Alvarado-Cabrero, Isabel

AU - Kalusova, Kristyna

AU - Kokoskova, Bohuslava

AU - Rotterova, Pavla

AU - Hora, Milan

AU - Daum, Ondrej

AU - Dubova, Magdalena

AU - Bauleth, Kevin

AU - Slouka, David

AU - Sperga, Maris

AU - Davidson, Whitney

AU - Rychly, Boris

AU - Montiel, Delia Perez

AU - Michal, Michal

AU - Hes, Ondrej

PY - 2016/1/1

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N2 - 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.

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KW - chromosomal aberration

KW - hereditary leiomyomatosis-associated renal cell carcinoma

KW - kidney

KW - papillary renal cell carcinoma

KW - tubulocystic renal cell carcinoma

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