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

Prasuna Muppa, Daniel L Van Dyke, Michelle K. Bianco, Beth A. Pitel, Stephanie A. Smoley, George Vasmatzis, James B. Smadbeck, William R. Sukov, Patricia T. Greipp, Rhett Patrick Ketterling, Linda B. Baughn, Jess F. Peterson

Research output: Contribution to journalArticle

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).

Original languageEnglish (US)
Pages (from-to)85-90
Number of pages6
JournalJournal of Hematopathology
Volume12
Issue number2
DOIs
StatePublished - Jun 1 2019

Keywords

  • Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC)
  • Mate-pair sequencing (MPseq)
  • PRDM16
  • THADA

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Hematology

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