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Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea
DC Field | Value | Language |
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dc.contributor.author | Yun, Jiwon | - |
dc.contributor.author | Song, Hyojin | - |
dc.contributor.author | Kim, Sung-Min | - |
dc.contributor.author | Kim, Soonok | - |
dc.contributor.author | Kwon, Seok Ryun | - |
dc.contributor.author | Lee, Young Eun | - |
dc.contributor.author | Jeong, Dajeong | - |
dc.contributor.author | Park, Jae Hyeon | - |
dc.contributor.author | Kwon, Sunghoon | - |
dc.contributor.author | Yun, Hongseok | - |
dc.contributor.author | Lee, Dong Soon | - |
dc.date.accessioned | 2023-05-11T08:11:03Z | - |
dc.date.available | 2023-05-11T17:11:30Z | - |
dc.date.issued | 2023-02-23 | - |
dc.identifier.citation | Human Genomics, 17(1):13 | ko_KR |
dc.identifier.issn | 1479-7364 | - |
dc.identifier.uri | https://hdl.handle.net/10371/192378 | - |
dc.description.abstract | Background
Therapy-related myeloid neoplasm (T-MN) rarely occurs among cancer survivors, and wascharacterized by poor prognosis. T-MN has germline predisposition in a considerable proportion. Here, clinical characteristics and germline/somatic variant profiles in T-MN patients were investigated, and the findings were compared with those of previous studies. Methods A review of medical records, cytogenetic study, targeted sequencing by next-generation sequencing, and survival analysis were performed on 53 patients with T-MN at a single institution in Korea. Results The patients were relatively younger compared to T-MN patients in other studies. Our T-MN patients showed ahigh frequency of complex karyotypes, −5/del(5q), and −7/del(7q), which was similar to the Japanese study group but higher than the Australian study group. The most common primary disease was non-Hodgkin lymphoma, followed by breast cancer. The detailed distributions of primary diseases were different across study groups. Seven patients (13.2%) harbored deleterious presumed/potential germline variants in cancer predisposition genes (CPG) such as BRIP1, CEBPA, DDX41, FANCM, NBN, NF1, and RUNX1. In the somatic variant profile, TP53 was the most frequently mutated gene, which was consistent with the previous studies about T-MN. However, the somatic variant frequency in our study group was lower than in other studies. Adverse factors for overall survival were male sex, older age, history of previous radiotherapy, previous longer cytotoxic therapy, and −5/del(5q). Conclusion The findings of our study corroborate important information about T-MN patients. As well as a considerable predisposition to CPG, the clinical characteristics and somatic variant profile showed distinctive patterns. Germline variant testing should be recommended for T-MN patients. If the T-MN patients harbor pathogenic germline variants, the family members for stem cell donation should be screened for carrier status through germline variant testing to avoid donor-derived myeloid neoplasm. For the prediction of the prognosis in T-MN patients, sex, age, past treatment history, and cytogenetic findings can be considered. | ko_KR |
dc.description.sponsorship | This work was supported by the National Research Foundation of Korea (NRF) Grant funded by the Korean government (MSIT) (NRF-2017R1A2A1A17069780 and NRF-2020R1A3B3079653) and a Grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI) funded by the Ministry of Health & Welfare, Republic of Korea (Grant No. HR14C0003). | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Therapy-related myeloid neoplasm | - |
dc.subject | Next-generation sequencing | - |
dc.subject | Germline predisposition | - |
dc.subject | Somatic mutation | - |
dc.title | Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea | ko_KR |
dc.type | Article | ko_KR |
dc.identifier.doi | 10.1186/s40246-023-00458-8 | ko_KR |
dc.citation.journaltitle | Human Genomics | ko_KR |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s) | - |
dc.date.updated | 2023-03-30T09:53:43Z | - |
dc.citation.number | 13 | ko_KR |
dc.citation.volume | 17 | ko_KR |
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