2. Assistant Professor, Department of Pathology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
3. Professor and HOD, Department of Pathology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
Renal cell Carcinoma (RCC) with Xp11.2 translocation/TFE3 (Transcription factor E3) gene fusions comprise at least one-third of the cases of pediatric RCC. The significance of identifying these cases is that, VEGFR (Vascular Endothelium derived Growth Factor)-targeted therapies and mTOR (mechanistic target of rapamycin) inhibitors seems to be active in the treatment of Xp11.2 translocation RCC. However, only few studies are available regarding this rare malignancy and as a result prognosis remains controversial. We present 2 cases of Xp11.2 RCC reported in our institute with a glimpse to the morphological patterns, ImmunoHistoChemistry (IHC) studies and cytogenetics.
Conclusion: RCC with Xp11.2 translocation/TFE3 gene fusion is a rare pediatric tumour for which the treatment options are on the advancing edge, based on which the prognosis can be improved.
Keywords: Xp11.2 translocation/TFE3 gene fusions, VEGFR-targeted therapies and mTOR inhibitors, renal cell carcinoma