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Novel DDX41 variants in Thai patients with myeloid neoplasms.
International Journal of Hematology ( IF 2.1 ) Pub Date : 2019-11-11 , DOI: 10.1007/s12185-019-02770-3
Chantana Polprasert 1, 2 , June Takeda 3 , Pimjai Niparuck 4 , Thanawat Rattanathammethee 5 , Arunrat Pirunsarn 6 , Amornchai Suksusut 1 , Sirorat Kobbuaklee 1, 2 , Kitsada Wudhikarn 1, 2 , Panisinee Lawasut 1, 2 , Sunisa Kongkiatkamon 1, 2 , Suporn Chuncharunee 4 , Kritanan Songserm 1 , Prasit Phowthongkum 1 , Udomsak Bunworasate 1, 2 , Yasuhito Nannya 3 , Kenichi Yoshida 3 , Hideki Makishima 3 , Seishi Ogawa 3, 7, 8 , Ponlapat Rojnuckarin 1, 2
Affiliation  

Germline DDX41 mutations were recently reported to cause MDS/AML and donor-derived leukemia after transplantation. While previously described in Western countries, DDX41 variants have not been reported in a Southeast Asian population. We performed targeted sequencing of blood or bone marrow samples from 109 Thai patients with myeloid malignancies. Among the 109 patients (75 MDS, 8 MPN, 11 MDS/MPN and 15 AML), the most frequent mutations were in ASXL1 (17.4%), TET2 (16.5%) and SRSF2 (12.8%), respectively. DDX41 variants were detectable in six (5.5%) cases. Four patients exhibited three presumable germline DDX41 mutations: p.S21fs (n = 2), p.F235fs (n = 1), and p.R339H (n = 1). While p.S21fs was previously reported in myeloid neoplasm, the latter two variants have not been described. Two of these cases harbored concomitant probable germline/somatic DDX41 mutations (p.S21fs/p.R525H and p.R339H/p.K494T), while the other two patients carried only somatic mutations (p.R525H and p.F438L). The p.K494T and p.F438L variants have not been previously reported. In patients with DDX41 alterations, the diagnoses were MDS with excess blasts (4), secondary AML (1) and low-risk MDS (1). In conclusion, we identified DDX41 variants in Thai patients with myeloid malignancies in which these variants could be used to assess predisposition to MDS in Southeast Asia.

中文翻译:

泰国患有髓样肿瘤的患者中的新型DDX41变体。

最近有报道称,生殖系DDX41突变可引起MDS / AML和供体来源的白血病。尽管先前在西方国家中进行过描述,但尚未在东南亚人群中报道DDX41变体。我们对109名泰国髓样恶性肿瘤患者的血液或骨髓样本进行了靶向测序。在109例患者中(75 MDS,8 MPN,11 MDS / MPN和15 AML),最常见的突变分别是ASXL1(17.4%),TET2(16.5%)和SRSF2(12.8%)。在六例(5.5%)病例中可检测到DDX41变体。四名患者表现出三个可能的种系DDX41突变:p.S21fs(n = 2),p.F235fs(n = 1)和p.R339H(n = 1)。虽然先前在髓样肿瘤中报道了p.S21fs,但尚未描述后两个变体。这些病例中有两个伴有可能的种系/体DDX41突变(p.S21fs / p.R525H和p.R339H / p.K494T),而其他两名患者仅携带体细胞突变(p.R525H和p.F438L)。先前尚未报道过p.K494T和p.F438L变体。在DDX41改变的患者中,诊断为MDS伴有爆炸作用(4),继发性AML(1)和低危MDS(1)。总之,我们在泰国患有髓样恶性肿瘤的患者中鉴定了DDX41变异体,其中这些变异体可用于评估东南亚MDS的易感性。次要AML(1)和低风险MDS(1)。总之,我们在泰国患有髓样恶性肿瘤的患者中鉴定了DDX41变异体,其中这些变异体可用于评估东南亚MDS的易感性。次要AML(1)和低风险MDS(1)。总之,我们在泰国患有髓样恶性肿瘤的患者中鉴定了DDX41变异体,其中这些变异体可用于评估东南亚MDS的易感性。
更新日期:2020-01-26
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