Clear cell papillary renal cell carcinoma and renal angiomyoadenomatous tumor two variants of a morphologic, immunohistochemical, and genetic distinct entity of renal cell carcinoma
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Clear cell papillary renal cell carcinoma and renal angiomyoadenomatous tumor two variants of a morphologic, immunohistochemical, and genetic distinct entity of renal cell carcinoma. / Deml, Karl-Friedrich; Schildhaus, Hans-Ulrich; Compérat, Eva; von Teichman, Adriana; Storz, Martina; Schraml, Peter; Bonventre, Joseph V; Fend, Falko; Fleige, Barbara; Nerlich, Andreas; Gabbert, Helmut E; GaBler, Nikolaus; Grobholz, Rainer; Hailemariam, Seife; Hinze, Raoul; Knüchel, Ruth; Lhermitte, Benoit; Nesi, Gabriella; Rüdiger, Thomas; Sauter, Guido; Moch, Holger.
in: AM J SURG PATHOL, Jahrgang 39, Nr. 7, 07.2015, S. 889-901.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Clear cell papillary renal cell carcinoma and renal angiomyoadenomatous tumor two variants of a morphologic, immunohistochemical, and genetic distinct entity of renal cell carcinoma
AU - Deml, Karl-Friedrich
AU - Schildhaus, Hans-Ulrich
AU - Compérat, Eva
AU - von Teichman, Adriana
AU - Storz, Martina
AU - Schraml, Peter
AU - Bonventre, Joseph V
AU - Fend, Falko
AU - Fleige, Barbara
AU - Nerlich, Andreas
AU - Gabbert, Helmut E
AU - GaBler, Nikolaus
AU - Grobholz, Rainer
AU - Hailemariam, Seife
AU - Hinze, Raoul
AU - Knüchel, Ruth
AU - Lhermitte, Benoit
AU - Nesi, Gabriella
AU - Rüdiger, Thomas
AU - Sauter, Guido
AU - Moch, Holger
PY - 2015/7
Y1 - 2015/7
N2 - Clear cell papillary renal cell carcinoma (ccpRCC) and renal angiomyoadenomatous tumor (RAT) share morphologic similarities with clear cell (ccRCC) and papillary RCC (pRCC). It is a matter of controversy whether their morphologic, immunophenotypic, and molecular features allow the definition of a separate renal carcinoma entity. The aim of our project was to investigate specific renal immunohistochemical biomarkers involved in the hypoxia-inducible factor pathway and mutations in the VHL gene to clarify the relationship between ccpRCC and RAT. We investigated 28 ccpRCC and 9 RAT samples by immunohistochemistry using 25 markers. VHL gene mutations and allele losses were investigated by Sanger sequencing and fluorescence in situ hybridization. Clinical follow-up data were obtained for a subset of the patients. No tumor recurrence or tumor-related death was observed in any of the patients. Immunohistochemistry and molecular analyses led to the reclassification of 3 tumors as ccRCC and TFE3 translocation carcinomas. The immunohistochemical profile of ccpRCC and RAT samples was very similar but not identical, differing from both ccRCC and pRCC. Especially, the parafibromin and hKIM-1 expression exhibited differences in ccpRCC/RAT compared with ccRCC and pRCC. Genetic analysis revealed VHL mutations in 2/27 (7%) and 1/7 (14%) ccpRCC and RAT samples, respectively. Fluorescence in situ hybridization analysis disclosed a 3p loss in 2/20 (10%) ccpRCC samples. ccpRCC and RAT have a specific morphologic and immunohistochemical profile, but they share similarities with the more aggressive renal tumors. On the basis of our results, we regard ccpRCC/RAT as a distinct entity of RCCs.
AB - Clear cell papillary renal cell carcinoma (ccpRCC) and renal angiomyoadenomatous tumor (RAT) share morphologic similarities with clear cell (ccRCC) and papillary RCC (pRCC). It is a matter of controversy whether their morphologic, immunophenotypic, and molecular features allow the definition of a separate renal carcinoma entity. The aim of our project was to investigate specific renal immunohistochemical biomarkers involved in the hypoxia-inducible factor pathway and mutations in the VHL gene to clarify the relationship between ccpRCC and RAT. We investigated 28 ccpRCC and 9 RAT samples by immunohistochemistry using 25 markers. VHL gene mutations and allele losses were investigated by Sanger sequencing and fluorescence in situ hybridization. Clinical follow-up data were obtained for a subset of the patients. No tumor recurrence or tumor-related death was observed in any of the patients. Immunohistochemistry and molecular analyses led to the reclassification of 3 tumors as ccRCC and TFE3 translocation carcinomas. The immunohistochemical profile of ccpRCC and RAT samples was very similar but not identical, differing from both ccRCC and pRCC. Especially, the parafibromin and hKIM-1 expression exhibited differences in ccpRCC/RAT compared with ccRCC and pRCC. Genetic analysis revealed VHL mutations in 2/27 (7%) and 1/7 (14%) ccpRCC and RAT samples, respectively. Fluorescence in situ hybridization analysis disclosed a 3p loss in 2/20 (10%) ccpRCC samples. ccpRCC and RAT have a specific morphologic and immunohistochemical profile, but they share similarities with the more aggressive renal tumors. On the basis of our results, we regard ccpRCC/RAT as a distinct entity of RCCs.
KW - Adult
KW - Aged
KW - Carcinoma, Renal Cell
KW - Diagnosis, Differential
KW - Female
KW - Humans
KW - Immunohistochemistry
KW - Kidney Neoplasms
KW - Male
KW - Middle Aged
U2 - 10.1097/PAS.0000000000000456
DO - 10.1097/PAS.0000000000000456
M3 - SCORING: Journal article
C2 - 25970683
VL - 39
SP - 889
EP - 901
JO - AM J SURG PATHOL
JF - AM J SURG PATHOL
SN - 0147-5185
IS - 7
ER -
