Characterization of a t(1;2)(p36;p21) involving the PRDM16 gene region by mate-pair sequencing (MPseq) in a patient with newly diagnosed acute myeloid leukemia with myelodysplasia-related changes

We describe the first case to our knowledge of t(1;2)(p36;p21) observed in AML-MRC. In addition, a next-generation sequencing strategy, mate-pair sequencing (MPseq) was performed and revealed the promoter 2 region ofTHADA (2p21) was juxtaposed upstream fromPRDM16 which may be responsible forPRDM16 overexpression that has been reported in hematologic neoplasms harboring the t(1;2)(p36;p21).
Source: Journal of Hematopathology - Category: Pathology Source Type: research