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

Krstic A, Rezayee F, Saft L, Hammarsjö A, Svenberg P, Barbany G

Front Pediatr 10 (-) 1082986 [2023-01-10; online 2023-01-10]

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 JAK2 fusion, with CCDC88C as a partner. CCDC88C encodes a protein part of the Wnt signaling pathway and has previously been described in hematological malignancies as fusion partner to FLT3 and PDGFRB. The novel CCDC88C::JAK2 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.

Clinical Genomics Stockholm [Service]

PubMed 36704135

DOI 10.3389/fped.2022.1082986

Crossref 10.3389/fped.2022.1082986

pmc: PMC9871838

Publications 9.5.0