Abstract
Per the 2017 WHO, several translocations have been described that are sufficient for the diagnosis of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) (assuming no prior therapy and ≥ 20% myeloblasts present in blood or bone marrow), including the t(1;3)(p36;q21). This translocation juxtaposes the RPN1 gene (3q21.2) promoter upstream of the PRDM16 gene (1p36) resulting in PRDM16 overexpression. While uncommon, PRDM16 overexpression is considered an unfavorable prognostic finding in myeloid neoplasms. A variant PRDM16 rearrangement t(1;2)(p36;p21) has been rarely described in various hematologic neoplasms, including two cases of myelodysplastic syndrome and one case each of myelofibrosis and T-lymphoblastic leukemia. 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 of THADA (2p21) was juxtaposed upstream from PRDM16 which may be responsible for PRDM16 overexpression that has been reported in hematologic neoplasms harboring the t(1;2)(p36;p21).
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
