<i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid Leukemia
In a subset of acute myeloid leukemia (AML) cases, the core binding factor beta subunit gene (<i>CBFB</i>) was rearranged via inv(16)(p13.1q22) or t(16;16)(p13.1;q22), in which the smooth muscle myosin heavy chain 11 gene (<i>MYH11</i>) was the partner (<i>CBFB::MYH11&l...
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MDPI AG
2022-07-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/8/1367 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Lulu Wang |
| collection | DOAJ |
| description | In a subset of acute myeloid leukemia (AML) cases, the core binding factor beta subunit gene (<i>CBFB</i>) was rearranged via inv(16)(p13.1q22) or t(16;16)(p13.1;q22), in which the smooth muscle myosin heavy chain 11 gene (<i>MYH11</i>) was the partner (<i>CBFB::MYH11</i>). Rare variants of <i>CBFB</i> 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 <i>CBFB</i> 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 (<i>PPP1R7</i>) at chromosome 2q37 was rearranged with <i>CBFB</i> (<i>CBFB::PPP1R7</i>). 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 <i>CBFB</i> rearrangement involved chromosome 2. Using whole genome and Sanger sequencing, the breakpoints were identified as being located in intron 5 of <i>CBFB</i> and intron 7 of <i>PPP1R7</i>. A microhomology of CAG was found in the break and reconnection sites of <i>CBFB</i> and <i>PPP1R7</i>, thus supporting the formation of <i>CBFB::PPP1R7</i> by microhomology-mediated end joining. |
| first_indexed | 2024-03-09T04:24:01Z |
| format | Article |
| id | doaj.art-83b810205dca40eb8b48a9bd1766bed6 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T04:24:01Z |
| publishDate | 2022-07-01 |
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| series | Genes |
| spelling | doaj.art-83b810205dca40eb8b48a9bd1766bed62023-12-03T13:42:45ZengMDPI AGGenes2073-44252022-07-01138136710.3390/genes13081367<i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid LeukemiaLulu Wang0Wei Wang1Hannah C. Beird2Xueqian Cheng3Hong Fang4Guilin Tang5Gokce A. Toruner6C. Cameron Yin7M. James You8Ghayas C. Issa9Gautam Borthakur10Guang Peng11Joseph D. Khoury12L. Jeffrey Medeiros13Zhenya Tang14Departments of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Clinical Cancer Prevention, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USADepartments of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USAIn a subset of acute myeloid leukemia (AML) cases, the core binding factor beta subunit gene (<i>CBFB</i>) was rearranged via inv(16)(p13.1q22) or t(16;16)(p13.1;q22), in which the smooth muscle myosin heavy chain 11 gene (<i>MYH11</i>) was the partner (<i>CBFB::MYH11</i>). Rare variants of <i>CBFB</i> 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 <i>CBFB</i> 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 (<i>PPP1R7</i>) at chromosome 2q37 was rearranged with <i>CBFB</i> (<i>CBFB::PPP1R7</i>). 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 <i>CBFB</i> rearrangement involved chromosome 2. Using whole genome and Sanger sequencing, the breakpoints were identified as being located in intron 5 of <i>CBFB</i> and intron 7 of <i>PPP1R7</i>. A microhomology of CAG was found in the break and reconnection sites of <i>CBFB</i> and <i>PPP1R7</i>, thus supporting the formation of <i>CBFB::PPP1R7</i> by microhomology-mediated end joining.https://www.mdpi.com/2073-4425/13/8/1367<i>CBFB</i> rearrangementnovel partner gene<i>PPP1R7</i>microhomologyAML |
| spellingShingle | 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 <i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid Leukemia Genes <i>CBFB</i> rearrangement novel partner gene <i>PPP1R7</i> microhomology AML |
| title | <i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid Leukemia |
| title_full | <i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid Leukemia |
| title_fullStr | <i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid Leukemia |
| title_full_unstemmed | <i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid Leukemia |
| title_short | <i>PPP1R7</i> Is a Novel Translocation Partner of <i>CBFB</i> via t(2;16)(q37;q22) in Acute Myeloid Leukemia |
| title_sort | i ppp1r7 i is a novel translocation partner of i cbfb i via t 2 16 q37 q22 in acute myeloid leukemia |
| topic | <i>CBFB</i> rearrangement novel partner gene <i>PPP1R7</i> microhomology AML |
| url | https://www.mdpi.com/2073-4425/13/8/1367 |
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