Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature
Table 1
Summarizing the findings in both patients with Xp11 translocation RCC.
Patient 1
Patient 2
Age
20 years
17 years
Presenting symptom
Incidentally detected
Total hematuria with clots Right flank pain
Physical examination
Palpable mass in right hypochondrium
Unremarkable
USG
8 cm cyst in anteromedial portion of right kidney/few internal septa
Hyperechoic lesion in the midpole region of right kidney measuring cm in size
CECT
(i) Large cm partially exophytic cystic mass arising from anterior interpolar region of right kidney with few small enhancing mural nodules in inner margin of cyst wall with prominent solid areas in medial wall (ii) No lymphadenopathy (iii) Renal vein and IVC normal
(i) Heterogeneously enhancing, well defined rounded lesion in the posterior aspect of right kidney near lower pole measuring cm in size with solid and cystic areas, spanning the cortex and medulla with minimal bulging into the sinus region. (ii) No lymphadenopathy (iii) Renal vein and IVC normal
Surgery
Right open radical nephrectomy. Enlarged hilar lymph node seen
Right laparoscopic radical nephrectomy
HPE
(i) RCC with Xp translocation-like features (ii) Neoplastic infiltrate in hilar lymph node (iii) Stage: pT2N1Mx
(i) RCC with Xp translocation-like features (ii) No evidence of infiltration to perinephric or renal sinus fat (iii) Stage: pT1bNxMx
Immunostain
Positive for CD10, Vimentin, and EMA but negative for CK7.
Positive for CD10, Vimentin, and EMA but negative for CK7.
TFE3 gene mutation study
TFE3 positivity with FISH analysis showing 55% cells to have split TFE3 signal.
TFE3 positivity with FISH analysis showing 36.7% cells to have split TFE3 signal supporting diagnosis of Xp11 translocation RCC.
