TY - JOUR
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
N1 - Publisher Copyright:
© 2015 Wolters Kluwer Health, Inc.
PY - 2016
Y1 - 2016
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.
AB - 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.
KW - chromosomal aberration
KW - hereditary leiomyomatosis-associated renal cell carcinoma
KW - kidney
KW - papillary renal cell carcinoma
KW - tubulocystic renal cell carcinoma
UR - http://www.scopus.com/inward/record.url?scp=84944339721&partnerID=8YFLogxK
U2 - 10.1097/PAI.0000000000000213
DO - 10.1097/PAI.0000000000000213
M3 - Article
C2 - 26447894
AN - SCOPUS:84944339721
SN - 1541-2016
VL - 24
SP - 521
EP - 530
JO - Applied Immunohistochemistry and Molecular Morphology
JF - Applied Immunohistochemistry and Molecular Morphology
IS - 7
ER -