PPP1R7 Is a Novel Translocation Partner of CBFB via t(2;16)(q37;q22) in Acute Myeloid Leukemia

Lulu Wang, Wei Wang, Hannah C. Beird, Xueqian Cheng, Hong Fang, Guilin Tang, Gokce A. Toruner, C. Cameron Yin, M. James You, Ghayas C. Issa, Gautam Borthakur, Guang Peng, Joseph D. Khoury, L. Jeffrey Medeiros, Zhenya Tang

Research output: Contribution to journalArticlepeer-review


In a subset of acute myeloid leukemia (AML) cases, the core binding factor beta subunit gene (CBFB) was rearranged via inv(16)(p13.1q22) or t(16;16)(p13.1;q22), in which the smooth muscle myosin heavy chain 11 gene (MYH11) was the partner (CBFB::MYH11). Rare variants of CBFB rearrangement occurring via non-classic chromosomal aberrations have been reported, such as t(1;16), t(2;16), t(3;16), t(5;16), and t(16;19), but the partners of CBFB have not been characterized. We report a case of AML with a complex karyotype, including t(2;16)(q37;q22), in which the protein phosphatase 1 regulatory subunit 7 gene (PPP1R7) at chromosome 2q37 was rearranged with CBFB (CBFB::PPP1R7). This abnormality was inconspicuous by conventional karyotype and interphase fluorescence in situ hybridization (FISH), thus leading to an initial interpretation of inv(16)(p13.1q22); however, metaphase FISH showed that the CBFB rearrangement involved chromosome 2. Using whole genome and Sanger sequencing, the breakpoints were identified as being located in intron 5 of CBFB and intron 7 of PPP1R7. A microhomology of CAG was found in the break and reconnection sites of CBFB and PPP1R7, thus supporting the formation of CBFB::PPP1R7 by microhomology-mediated end joining.

Original languageEnglish (US)
Article number1367
Issue number8
StatePublished - Aug 2022
Externally publishedYes


  • AML
  • CBFB rearrangement
  • PPP1R7
  • microhomology
  • novel partner gene

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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