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Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Jikyo | - |
dc.contributor.author | Kim, Sung Min | - |
dc.contributor.author | Kim, Soonok | - |
dc.contributor.author | Yun, Jiwon | - |
dc.contributor.author | Jeong, Dajeong | - |
dc.contributor.author | Lee, Young Eun | - |
dc.contributor.author | Roh, Eun-Youn | - |
dc.contributor.author | Lee, Dong Soon | - |
dc.date.accessioned | 2022-06-21T06:51:47Z | - |
dc.date.available | 2022-06-21T06:51:47Z | - |
dc.date.created | 2022-05-24 | - |
dc.date.issued | 2022-09 | - |
dc.identifier.citation | Annals of Laboratory Medicine, Vol.42 No.5, pp.590-596 | - |
dc.identifier.issn | 2234-3806 | - |
dc.identifier.uri | https://hdl.handle.net/10371/182583 | - |
dc.description.abstract | The translocation (3;21)(q26.2;q22.1) is a unique cytogenetic aberration that characterizes acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) in patients with AML and myelodysplastic syndrome (MDS) or a therapy-related myeloid neoplasm. Using multigene target sequencing and FISH, we investigated the clinical and genomic profiles of patients with t(3;21) over the past 10 years. The frequency of t(3;21) among myeloid malignancies was very low (0.2%). Half of the patients had a history of cancer treatment and the remaining patients had de novo MDS. Twenty-one somatic variants were detected in patients with t(3;21), including in CBL, GATA2, and SF3B1. Recurrent variants in RUNX1 (c.1184A>C, p.Glu395Ala) at the same site were detected in two patients. None of the patients with t(3;21) harbored germline predisposition mutations for myeloid neoplasms. MECOM rearrangement was detected at a higher rate using FISH than using G-banding, suggesting that FISH is preferable for monitoring. Although survival of patients with t(3;21) is reportedly poor, the survival of patients with t(3;21) in this study was not poor when compared with that of other AML patients in Korea. | - |
dc.language | 영어 | - |
dc.publisher | 대한진단검사의학회 | - |
dc.title | Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation | - |
dc.type | Article | - |
dc.identifier.doi | 10.3343/alm.2022.42.5.590 | - |
dc.citation.journaltitle | Annals of Laboratory Medicine | - |
dc.identifier.wosid | 000792493100009 | - |
dc.identifier.scopusid | 2-s2.0-85128849264 | - |
dc.citation.endpage | 596 | - |
dc.citation.number | 5 | - |
dc.citation.startpage | 590 | - |
dc.citation.volume | 42 | - |
dc.description.isOpenAccess | N | - |
dc.contributor.affiliatedAuthor | Lee, Dong Soon | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
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