Objective: To observe the genetic variation of SH2B3 in patients with myeloid neoplasms.
Methods: The results of targeted DNA sequencing associated with myeloid neoplasms in the Department of Hematology, Xuanwu Hospital, Capital Medical University from November 2017 to November 2022 were retrospectively analyzed, and the patients with SH2B3 gene mutations were identified. The demographic and clinical data of these patients were collected, and characteristics of SH2B3 gene mutation, co-mutated genes and their correlations with diseases were analyzed.
Results: The sequencing results were obtained from 1 005 patients, in which 19 patients were detected with SH2B3 gene mutation, including 18 missense mutations (94.74%), 1 nonsense mutation (5.26%), and 10 patients with co-mutated genes (52.63%). Variant allele frequency (VAF) ranged from 0.03 to 0.66. The highest frequency mutation was p.Ile568Thr (5/19, 26.32%), with an average VAF of 0.49, involving 1 case of MDS/MPN-RS (with SF3B1 mutation), 1 case of MDS-U (with SF3B1 mutation), 1 case of aplastic anemia with PNH clone (with PIGA and KMT2A mutations), 2 cases of MDS-MLD (1 case with SETBP1 mutation). The other mutations included p.Ala567Thr in 2 cases (10.53%), p.Arg566Trp, p.Glu533Lys, p.Met437Arg, p.Arg425Cys, p.Glu314Lys, p.Arg308*, p.Gln294Glu, p.Arg282Gln, p.Arg175Gln, p.Gly86Cys, p.His55Asn and p.Gln54Pro in 1 case each.
Conclusion: A wide distribution of genetic mutation sites and low recurrence of SH2B3 is observed in myeloid neoplasms, among of them, p.Ile568Thr mutation is detected with a higher incidence and often coexists with characteristic mutations of other diseases.
题目: SH2B3 基因在髓系肿瘤中的突变位点及频率分析.
目的: 分析SH2B接头蛋白3（SH2B3 ）基因在髓系肿瘤中的突变位点及频率。.
方法: 回顾性分析2017年11月至2022年11月首都医科大学宣武医院血液内科髓系肿瘤相关基因靶向DNA测序结果，筛选出携带SH2B3 基因突变的患者，收集患者人口学资料及临床资料，分析SH2B3 基因突变类型、突变位点、发生频率、共突变基因以及与疾病间的关系。.
结果: 测序结果来自1 005例患者，有19例患者检测到SH2B3 基因突变，其中错义突变18例（94.74%），无义突变1例（5.26%），10例患者同时伴发其他突变（52.63%），突变等位基因频率（VAF）分布于0.03-0.66；发生频率最高的突变为p.Ile568Thr（5/19，26.32%），平均VAF为0.49，涉及1例MDS/MPN-RS（伴 SF3B1突变）、1例MDS-U（伴 SF3B1突变）、1例再生障碍性贫血伴PNH克隆（伴PIGA和KMT2A 突变）、2例MDS-MLD（其中1例伴SETBP1 突变）；其余突变包括2例p.Ala567Thr（10.53%），p.Arg566Trp、p.Glu533Lys、p.Met437Arg、p.Arg425Cys、p.Glu314Lys、p.Arg308*、p.Gln294Glu、p.Arg282Gln、p.Arg175Gln、p.Gly86Cys、p.His55Asn和p.Gln54Pro各1例。.
结论: SH2B3 基因在髓系肿瘤中突变位点分布较广，重现性低，其中p.Ile568Thr突变发生率较高，常与其他疾病特征性突变共存。.
Keywords:
myeloid neoplasms; genetic mutation;