AUTHOR=Krstic Aleksandra , Rezayee Fatemah , Saft Leonie , Hammarsjö Anna , Svenberg Petter , Barbany Gisela 

TITLE=Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.1082986

DOI=10.3389/fped.2022.1082986

ISSN=2296-2360

ABSTRACT=<p>In the present report, we applied whole genome sequencing (WGS) to genetically characterize a case of pediatric T-cell acute lymphoblastic leukemia (ALL) refractory to standard therapy. WGS identified a novel <italic>JAK2</italic> fusion, with <italic>CCDC88C</italic> as a partner. <italic>CCDC88C</italic> encodes a protein part of the Wnt signaling pathway and has previously been described in hematological malignancies as fusion partner to <italic>FLT3</italic> and <italic>PDGFRB</italic>. The novel <italic>CCDC88C</italic>::<italic>JAK2</italic> fusion gene results in a fusion transcript, predicted to produce a hybrid protein, which retains the kinase domain of JAK2 and is expected to respond to JAK2 inhibitors. This report illustrates the potential of WGS in the diagnostic setting of ALL.</p>