journal of Histology & Histopathology

Journal of Histology & Histopathology

ISSN 2055-091X
Case report

Renal cell carcinoma with Xp11.2 translocation/TFE3 gene fusions -experience from a tertiary care hospital in Kerala, India

Zuhara Shemin1*, Sreekala Sreehari2 and Annie Jojo3

*Correspondence: Zuhara Shemin zuharasalman@gmail.com

1. Consultant Pathologist, Gokula Metropolis Clinical Laboratories, Basement, M S Ramaiah Hospital, Bangalore, India.

Author Affiliations

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.

Abstract

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

ISSN 2055-091X
Volume 2
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