Translocation Renal Cell Cancer: A Rare Disease in Adults
Anthony Willis MD, Mark Hysell DO., and Andrei Plagov, MD
Patient
A 29-yr-old male presented with malaise, weight
loss, and back pain. Computed tomography
revealed a large left renal tumor with extensive
metastases. Hematoxylin-eosin staining revealed
nested and papillary architecture with abundant
eosinophilic cytoplasm. A diagnosis of Xp11.2
translocation renal cell carcinoma was based on
the HES characteristics and strong nuclear
expression of TFE3.
Background
Common Types of renal cell carcinoma (RCC)
include clear cell, papillary, chromophobe,
collecting duct, and spindle cell carcinoma. These
forms are associated with specific genetic
alterations including regulator deletions in clear cell
and trisomy in papillary. Translocation RCC is
common in children, but rare in adults, accounting
for 1.6% to 5% of adult RCCs. Translocation of the
transcription factor E3 (TFE3) gene on Xp11.2 and
fusion between TFE3 and ASPL, PRCC, PSF,
NonO, or CLTC results in overexpression of the
TFE3. In adults, translocation RCC is found at
advanced stages and has an exceptionally
aggressive clinical course without an effective
therapy apart from surgery. Unfortunately, many of
the patients are not surgical candidates secondary
to vascular invasion and metastases.
Histology
TFE3 is highly sensitive and specific for Xp11.2
translocation
Macroscopically: solid, tan-yellow, and may display
hemorrhage and necrosis
Microscopically: papillary and/or nested architecture
in a background of prominent capillary vasculature
A
B
CECT
14x12x9cm left renal mass
Bulky lymphadenopathy
MRI W/ Contrast
Diffuse metastases
Encasement at T5
C
A.
B.
C.
D.
D
Nested and papillary architecture with abundant
eosinophilic cytoplasm. HE stain.
PAX8 Stain. (Sensitive for primary RCC)
Strong nuclear expression of TFE3. RCC stain
Strong nuclear expression of TFE3. (Magnified)
References
Alexiev, BA, Renal Cell Carcinoma Associated with Xp11.2 Translocation/Transcription Factor E3 (TFE3) Fusion. J Cytol Histol;
2013:4: 173.
Pedram Argani, MD and Marc Ladanyi, MD. The Evolving Story of Renal Translocation Carcinomas. Am J Clin Pathol
2006;126:332-334.
Tobias Klatte, MD et al. Renal Cell Carcinoma Associated With Transcription Factor E3 Expression and Xp11.2 Translocation
Incidence, Characteristics, and Prognosis. Am J Clin Pathol 2012;137:761-768.
Morii et al. Rapidly progressing renal cell carcinoma associated with Xp11.2 translocations: a case report. Journal of Medica l Case
Reports 2012 6:164.
Treatment
Surgery
Poor Chemo Response
VEGFR-targets
mTOR inhibitors
US Scrotum
Varicoceles on left
CT Guided Biopsy
Successful biopsy