PMID- 36011278
OWN - NLM
STAT- MEDLINE
DCOM- 20220829
LR  - 20221004
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 13
IP  - 8
DP  - 2022 Jul 29
TI  - PPP1R7 Is a Novel Translocation Partner of CBFB via t(2;16)(q37;q22) in Acute 
      Myeloid Leukemia.
LID - 10.3390/genes13081367 [doi]
LID - 1367
AB  - 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.
FAU - Wang, Lulu
AU  - Wang L
AD  - Departments of Clinical Cancer Prevention, The University of Texas MD Anderson 
      Cancer Center, Houston, TX 77030, USA.
FAU - Wang, Wei
AU  - Wang W
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Beird, Hannah C
AU  - Beird HC
AUID- ORCID: 0000-0002-5078-534X
AD  - Departments of Genomic Medicine, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Cheng, Xueqian
AU  - Cheng X
AUID- ORCID: 0000-0001-8454-1071
AD  - Departments of Clinical Cancer Prevention, The University of Texas MD Anderson 
      Cancer Center, Houston, TX 77030, USA.
FAU - Fang, Hong
AU  - Fang H
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Tang, Guilin
AU  - Tang G
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Toruner, Gokce A
AU  - Toruner GA
AUID- ORCID: 0000-0002-5305-6337
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Yin, C Cameron
AU  - Yin CC
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - You, M James
AU  - You MJ
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Issa, Ghayas C
AU  - Issa GC
AUID- ORCID: 0000-0002-4339-8683
AD  - Departments of Leukemia, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Borthakur, Gautam
AU  - Borthakur G
AD  - Departments of Leukemia, The University of Texas MD Anderson Cancer Center, 
      Houston, TX 77030, USA.
FAU - Peng, Guang
AU  - Peng G
AD  - Departments of Clinical Cancer Prevention, The University of Texas MD Anderson 
      Cancer Center, Houston, TX 77030, USA.
FAU - Khoury, Joseph D
AU  - Khoury JD
AUID- ORCID: 0000-0003-2621-3584
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Medeiros, L Jeffrey
AU  - Medeiros LJ
AUID- ORCID: 0000-0001-6577-8006
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
FAU - Tang, Zhenya
AU  - Tang Z
AUID- ORCID: 0000-0002-8079-9945
AD  - Departments of Hematopathology, The University of Texas MD Anderson Cancer 
      Center, Houston, TX 77030, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20220729
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 0 (CBFB protein, human)
RN  - 0 (Core Binding Factor beta Subunit)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Chromosome Aberrations
MH  - Core Binding Factor beta Subunit/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Leukemia, Myeloid, Acute/genetics
MH  - *Oncogene Proteins, Fusion/genetics
MH  - Translocation, Genetic/genetics
PMC - PMC9407081
OTO - NOTNLM
OT  - AML
OT  - CBFB rearrangement
OT  - PPP1R7
OT  - microhomology
OT  - novel partner gene
COIS- The authors declare no conflict of interest.
EDAT- 2022/08/27 06:00
MHDA- 2022/08/30 06:00
PMCR- 2022/07/29
CRDT- 2022/08/26 01:16
PHST- 2022/07/07 00:00 [received]
PHST- 2022/07/22 00:00 [revised]
PHST- 2022/07/25 00:00 [accepted]
PHST- 2022/08/26 01:16 [entrez]
PHST- 2022/08/27 06:00 [pubmed]
PHST- 2022/08/30 06:00 [medline]
PHST- 2022/07/29 00:00 [pmc-release]
AID - genes13081367 [pii]
AID - genes-13-01367 [pii]
AID - 10.3390/genes13081367 [doi]
PST - epublish
SO  - Genes (Basel). 2022 Jul 29;13(8):1367. doi: 10.3390/genes13081367.