Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neoplasm with eosinophilia

In 2016, a new World Health Organization provisional entity was added to the category ‘Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1’ and included PCM1-JAK2 fusions and their variants. At the time this provisional entity was added, approximately 30 cases of t(8;9)/PCM1-JAK2 fusions had been reported. The variants, which consist of trans locations between JAK2 and an alternative partner, include t(9;22)(p24.1;q11.2)/BCR-JAK2 and t(9;12)(p24.1;p13.2)/ETV6-JAK2 which are even rarer, with only 11 known cases of BCR-JAK2 fusions.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Tags: Short Communication Source Type: research