Bilateral renal tumors; conventional clear cell carcinoma and contralateral t(6;11)/t(X;17)-like tumor Histomorphologic, immunohistochemical, ultrastructural and molecular genetic studies including the report of a novel mutation in the VHL gene.
A 34-year-old pregnant woman with bilateral kidney tumors 9.5 and 2.5 cm in maximum diameter is presented. The larger tumor was clear renal cell carcinoma. The smaller contralateral tumor was focally HMB45 positive and had unusual histomorphology, including features resembling clear renal cell carcinoma with features of both t(6;11)- and t(X;17)/ASPL-TFE3 carcinomas. This tumor displayed a complex karyotype. A novel germ line mutation in the VHL gene (c.439A>G/p.I147V) was also identified in this patient.
Petersson
Fredrik
F
Department of Pathology, National University Health System, Singapore.
Michal
Michal
M
Vaněček
Tomáš
T
Hora
Milan
M
Trivunic
Sandra
S
Halbhuber
Zbyněk
Z
Hes
Ondřej
O
D000328:Adult; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002906:Chromosomes, Human, 6-12 and X; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009154:Mutation; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014178:Translocation, Genetic; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human