TY - JOUR
T1 - Tuberous sclerosis-associated renal cell carcinoma
T2 - A clinicopathologic study of 57 separate carcinomas in 18 patients
AU - Guo, Juan
AU - Tretiakova, Maria S.
AU - Troxell, Megan L.
AU - Osunkoya, Adeboye O.
AU - Fadare, Oluwole
AU - Sangoi, Ankur R.
AU - Shen, Steven S.
AU - Lopez-Beltran, Antonio
AU - Mehra, Rohit
AU - Heider, Amer
AU - Higgins, John P.
AU - Harik, Lara R.
AU - Leroy, Xavier
AU - Gill, Anthony J.
AU - Trpkov, Kiril
AU - Campbell, Steven C.
AU - Przybycin, Christopher
AU - Magi-Galluzzi, Cristina
AU - McKenney, Jesse K.
N1 - Publisher Copyright:
Copyright © 2014 by Lippincott Williams & Wilkins.
PY - 2014
Y1 - 2014
N2 - Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with characteristic tumors involving multiple organ systems. Whereas renal angiomyolipoma (AML) is common in TSC, renal cell carcinoma (RCC) is rarely reported. Fifty-seven RCCs from 13 female and 5 male TSC patients were reviewed. Age at surgery ranged from 7 to 65 years (mean: 42 y). Nine patients (50%) had multiple synchronous and/or metachronous RCCs (range of 2 to 20 RCCs) and 5 had bilateral RCCs (28%). Seventeen patients (94%) had histologically confirmed concurrent renal AMLs, including 15 with multiple AMLs (88%) and 9 (50%) with AMLs with epithelial cysts. None of the 15 patients with available clinical follow-up information had evidence of distant metastatic disease from 6 to 198 months after their initial surgery (mean: 52 mo). The 57 RCCs exhibited 3 major distinct morphologies: (1) 17 RCCs (30%) had features similar to tumors previously described as "renal angiomyoadenomatous tumor" or "RCC with smooth muscle stroma"; (2) 34 RCCs (59%) showed features similar to chromophobe RCC; and (3) 6 RCCs (11%) showed a granular eosinophilic-macrocystic morphology. Distinct histologic changes were also commonly present in the background kidney parenchyma and included cysts or renal tubules lined by epithelial cells with prominent eosinophilic cytoplasm, nucleomegaly, and nucleoli. Immunohistochemically, all RCCs tested showed strong nuclear reactivity for PAX8 and HMB45 negativity. Compared with sporadic RCCs, TSC-associated RCCs have unique clinicopathologic features including female predominance, younger age at diagnosis, multiplicity, association with AMLs, 3 recurring histologic patterns, and an indolent clinical course. Awareness of the morphologic and clinicopathologic spectrum of RCC in this setting will allow surgical pathologists to better recognize clinically unsuspected TSC patients.
AB - Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with characteristic tumors involving multiple organ systems. Whereas renal angiomyolipoma (AML) is common in TSC, renal cell carcinoma (RCC) is rarely reported. Fifty-seven RCCs from 13 female and 5 male TSC patients were reviewed. Age at surgery ranged from 7 to 65 years (mean: 42 y). Nine patients (50%) had multiple synchronous and/or metachronous RCCs (range of 2 to 20 RCCs) and 5 had bilateral RCCs (28%). Seventeen patients (94%) had histologically confirmed concurrent renal AMLs, including 15 with multiple AMLs (88%) and 9 (50%) with AMLs with epithelial cysts. None of the 15 patients with available clinical follow-up information had evidence of distant metastatic disease from 6 to 198 months after their initial surgery (mean: 52 mo). The 57 RCCs exhibited 3 major distinct morphologies: (1) 17 RCCs (30%) had features similar to tumors previously described as "renal angiomyoadenomatous tumor" or "RCC with smooth muscle stroma"; (2) 34 RCCs (59%) showed features similar to chromophobe RCC; and (3) 6 RCCs (11%) showed a granular eosinophilic-macrocystic morphology. Distinct histologic changes were also commonly present in the background kidney parenchyma and included cysts or renal tubules lined by epithelial cells with prominent eosinophilic cytoplasm, nucleomegaly, and nucleoli. Immunohistochemically, all RCCs tested showed strong nuclear reactivity for PAX8 and HMB45 negativity. Compared with sporadic RCCs, TSC-associated RCCs have unique clinicopathologic features including female predominance, younger age at diagnosis, multiplicity, association with AMLs, 3 recurring histologic patterns, and an indolent clinical course. Awareness of the morphologic and clinicopathologic spectrum of RCC in this setting will allow surgical pathologists to better recognize clinically unsuspected TSC patients.
KW - Angiomyolipoma
KW - Ca9
KW - Cd117
KW - Ck7
KW - HMB45
KW - PAX8
KW - Renal angiomyoadenomatous tumor
KW - Renal cell carcinoma
KW - Tuberous sclerosis
UR - http://www.scopus.com/inward/record.url?scp=84914677880&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84914677880&partnerID=8YFLogxK
U2 - 10.1097/PAS.0000000000000248
DO - 10.1097/PAS.0000000000000248
M3 - Article
C2 - 25093518
AN - SCOPUS:84914677880
SN - 0147-5185
VL - 38
SP - 1457
EP - 1467
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
IS - 11
ER -