Ces Urol 2008, 12(3):186-193 | DOI: 10.48095/cccu2008019

Kidney carcinoma associated with Xp11.2 translocation type ASPL/TFE3

Milan Hora¹, Ondřej Hes², Viktor Eret¹, Tomáš Ürge¹, Jiří Klečka¹, Jiří Ferda³, Zdeněk Chudáček⁴, Tomáš Vaněček², Michal Michal²

¹ Urologická klinika LF UK a FN, Plzeň

² Šiklův patologicko-anatomický ústav LF UK a FN, Plzeň

³ Radiodiagnostická klinika LF UK a FN, Plzeň

⁴ Radiodiagnostické oddělení LF UK a FN, Plzeň

Aim: Renal cell carcinomas with translocation are in WHO classif cation of kidney tumours 2004 a new entity. These carcinomas are defined by dif erent translocations of chromosome Xp11.2 leading in all cases of short arm of chromosome X in locus 11.2 with gene TFE3. T ey are divided by type of translocation on 6 types. Nearly half of them are carcinomas with translocation of type ASPL/TFE3 with translocation t(X;17)(p11.2;q25) characterised with fusion of genes ASPL and TFE3. We describe two cases of this type.
Cases:
Case No. 1: Men, 80-year-old, IHD, cardiostimulation due to bradycardia, lef side hemicolectomy for adenocarcinoma of colon pT3pN0M0 11 years before with following 6 cycles of chemotherapy (5-fluorouracil, ftorafur a leukovorin). He underwent now lef side nephrectomy for no-functioning hydronephrotic pouch. Specimen at operation was filled tumourous detritus and histology described carcinoma with translocation type ASPL/ TFE 3 with sarcomatoid dedif erentiation. Men died 19. post-operative day due to generalisation of tumour.
Case No. 2: Woman, 34-year-old, she was followed up some years for centrally located cystic lesion of lef kidney. Control CT and MRI described cystic tumour cT1b 46 mm in the biggest diameter. She underwent enucleation of tumour. Histopathology was typical renal carcinoma with translocation type ASPL/TFE 3. She is 5 months form operation well without signs of recurrence of tumour.

Conclusion: Renal cell carcinoma with translocation type t(X; 17)(p11.2;q25) is rare tumour. Pathologist can describe it by typical morphological view and by positivity with protein TFE3 by immuno-histochemical investigation. Our two cases hade non-standard clinical symptoms (picture of advanced hydronephrosis or centrally located cystic tumours followed up for a long time only). Tumour is by literature mostly in younger patients, but one our patients was 80-year-old. Malignant potential is probably low

Keywords: renal cell carcinoma, nephrectomy, translocation, immunohistochemistry

Received: July 9, 2008; Accepted: August 3, 2008; Published: June 1, 2008