Dysregulated cell signalling as an oncogenic basis for the development of clear cell sarcoma of kidney (CCSK)

Abstract

Clear cell sarcoma of the kidney (CCSK) is a poorly understood, aggressive, therapy resistance cancer of childhood. The lack of consistent histological or immunohistochemical features of CCSK can make this a diagnostic challenge. A t(10;17) translocation was the first recurrent genetic aberration to be described in CCSK and was subsequently characterised by the O'Sullivan research group in 2012. The fusion protein resulting from the translocation involves the YWHAE and NUTM2 genes. YWHAE encodes 14-3-3e an adapter protein and member of the 14-3-3 ε family. It interacts with many other proteins and is frequently implicated in various cancer types. NUTM2 is poorly understood but is related to the NUT protein which is rearranged in lethal midline carcinoma. We wished to study this fusion and how it contributes to oncogenesis in CCSK.