Identification of RNPC3 as a novel JAK2 fusion partner gene in B-acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib.

ABSTRACT:

Background

Hematopoietic neoplasms with chromosomal translocations involving JAK2 are rare, and most of them show myeloproliferative neoplasm-associated features, followed by B-acute lymphoblastic leukemia (B-ALL). De novo B-ALL cases with JAK2 rearrangements are suggested to be appropriately considered as BCR-ABL1-like B-ALL, but its partners varied.

Methods

Fluorescence in situ hybridization (FISH), RNA sequencing (RNA-Seq), whole-genome sequencing, and reverse transcription polymerase chain reaction (RT-PCR) were performed to identify the pathogenic fusion gene in a 29-year-old woman with relapsed B-ALL and rare t(1;9)(p13;p22) translocation.

Results

We identified RNPC3 as a new JAK2 fusion partner in the patient. She was treated with a combination of chemotherapy

SUBMITTER: Chen X 

PROVIDER: S-EPMC7057088 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature