Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report
Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality. It leads to the core-binding factor ß-subunit (CBFβ)/smooth muscle myosin heavy chain 11 (MYH11) fusion gene. Different breakpoints were observed in the CBFβ gene at 16q22 and the MYH11 gene at 16p13.1. For this r...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Associação Brasileira de Divulgação Científica
2021-10-01
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| Series: | Brazilian Journal of Medical and Biological Research |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2021001200501&tlng=en |
| _version_ | 1798021955386867712 |
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| author | Wenyi Zhang Hainan Wang Peilei Zhang Hongliang Li Xiaoli Ma Hongxing Liu |
| author_facet | Wenyi Zhang Hainan Wang Peilei Zhang Hongliang Li Xiaoli Ma Hongxing Liu |
| author_sort | Wenyi Zhang |
| collection | DOAJ |
| description | Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality. It leads to the core-binding factor ß-subunit (CBFβ)/smooth muscle myosin heavy chain 11 (MYH11) fusion gene. Different breakpoints were observed in the CBFβ gene at 16q22 and the MYH11 gene at 16p13.1. For this reason, different CBFβ/MYH11 fusion genes are generated, with more than 13 types having been reported to date. Type I CBFβ/MYH11 fusion transcripts are very rare, with only 10 cases being reported to date. This case report describes a primary AML patient with inv(16)(p13.1q22) and a rare type I CBFβ/MYH11 fusion gene. The morphological analysis did not conform to the typical M4eo. Abnormal eosinophils were less than 5%, and there was obvious dysgranulopoiesis. The patient was in hematological and genetic remission for 487 days after the initial chemotherapy cycles. However, the CBFβ/MYH11 fusion had been constantly positive. Moreover, the presence of non-type A fusions may affect its biology and clinical prognosis. Therefore, further studies on understanding its biological and prognostic significance are essential. |
| first_indexed | 2024-04-11T17:21:55Z |
| format | Article |
| id | doaj.art-ff231c5481eb47c1a36224f5096e3ca2 |
| institution | Directory Open Access Journal |
| issn | 1414-431X |
| language | English |
| last_indexed | 2024-04-11T17:21:55Z |
| publishDate | 2021-10-01 |
| publisher | Associação Brasileira de Divulgação Científica |
| record_format | Article |
| series | Brazilian Journal of Medical and Biological Research |
| spelling | doaj.art-ff231c5481eb47c1a36224f5096e3ca22022-12-22T04:12:28ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research1414-431X2021-10-01541210.1590/1414-431x2021e11605Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case reportWenyi Zhanghttps://orcid.org/0000-0001-8471-6396Hainan Wanghttps://orcid.org/0000-0003-0471-4361Peilei Zhanghttps://orcid.org/0000-0001-7667-2127Hongliang Lihttps://orcid.org/0000-0002-1084-5651Xiaoli Mahttps://orcid.org/0000-0003-3465-3424Hongxing Liuhttps://orcid.org/0000-0002-0547-5721Inv(16)(p13.1q22) in acute myeloid leukemia (AML) is a common chromosomal abnormality. It leads to the core-binding factor ß-subunit (CBFβ)/smooth muscle myosin heavy chain 11 (MYH11) fusion gene. Different breakpoints were observed in the CBFβ gene at 16q22 and the MYH11 gene at 16p13.1. For this reason, different CBFβ/MYH11 fusion genes are generated, with more than 13 types having been reported to date. Type I CBFβ/MYH11 fusion transcripts are very rare, with only 10 cases being reported to date. This case report describes a primary AML patient with inv(16)(p13.1q22) and a rare type I CBFβ/MYH11 fusion gene. The morphological analysis did not conform to the typical M4eo. Abnormal eosinophils were less than 5%, and there was obvious dysgranulopoiesis. The patient was in hematological and genetic remission for 487 days after the initial chemotherapy cycles. However, the CBFβ/MYH11 fusion had been constantly positive. Moreover, the presence of non-type A fusions may affect its biology and clinical prognosis. Therefore, further studies on understanding its biological and prognostic significance are essential.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2021001200501&tlng=enAcute myeloid leukemiaType I CBFβ/MYH11Inv(16)(p13.1q22)Case report |
| spellingShingle | Wenyi Zhang Hainan Wang Peilei Zhang Hongliang Li Xiaoli Ma Hongxing Liu Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report Brazilian Journal of Medical and Biological Research Acute myeloid leukemia Type I CBFβ/MYH11 Inv(16)(p13.1q22) Case report |
| title | Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report |
| title_full | Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report |
| title_fullStr | Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report |
| title_full_unstemmed | Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report |
| title_short | Rare type I CBFβ/MYH11 fusion transcript in primary acute myeloid leukemia with inv(16)(p13.1q22): a case report |
| title_sort | rare type i cbfβ myh11 fusion transcript in primary acute myeloid leukemia with inv 16 p13 1q22 a case report |
| topic | Acute myeloid leukemia Type I CBFβ/MYH11 Inv(16)(p13.1q22) Case report |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2021001200501&tlng=en |
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