Clinical outcomes of patients diagnosed with SETBP1 mutated myeloid neoplasms.

IF 2.2 4区医学 Q3 HEMATOLOGY

Leukemia & Lymphoma Pub Date : 2024-11-06 DOI:10.1080/10428194.2024.2425048

Yazan Jabban, Mahmoud Yacout, Anmol Baranwal, Rong He, David Viswanatha, Patricia Greipp, Dragan Jevremovic, Kurt Bessonen, James Foran, Jeanne Palmer, Antoine N Saliba, Mehrdad Hefazi-Torghabeh, Kebede Begna, William J Hogan, Abhishek Mangaonkar, Mrinal Patnaik, Mithun Shah, Hassan Alkhateeb, Aref Al-Kali

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Abstract

SETBP1 mutations (m) have been previously reported in myeloid neoplasms and are associated with poor prognostic co-mutations and cytogenetic abnormalities. We retrospectively analyzed the charts of 113 patients diagnosed with myeloid neoplasms with SETBP1m. The most common diagnosis was MDS (31%). Cytogenetics were abnormal in 51 cases (46.4%), with monosomy 7 being the most common (41.1%). The most frequent co-mutations were ASXL1 (71.7%), SRSF2 (46.9%), TET2 (20.4%). Higher SETBP1m VAF was associated with proliferative features (p < 0.05). Most SETBP1m (96.5%) were in one of three hotspots (Asp868, Gly870, Ile871), with Asp868m being most frequent (51.3%). Patients with Ile871m had higher number of co-mutations (median= 4) compared to Asp868m and Gly870m (p = 0.07). On multivariate analysis, age ≥ 70 years (p = 0.004) and higher peripheral blood blasts (p = 0.02) had worse OS. Patients with Ile871m had lower OS when compared with Asp868m and Gly870m (5.5 months vs. 17.4 and 17 months, respectively, p = 0.1).

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确诊为 SETBP1 基因突变骨髓性肿瘤患者的临床疗效。

以前曾报道过骨髓性肿瘤中的 SETBP1 基因突变（m）与预后不良的共突变和细胞遗传学异常有关。我们回顾性分析了 113 例被诊断为 SETBP1m 的骨髓性肿瘤患者的病历。最常见的诊断是 MDS（31%）。51例（46.4%）细胞遗传学异常，其中单体7型最为常见（41.1%）。最常见的共突变是ASXL1（71.7%）、SRSF2（46.9%）和TET2（20.4%）。较高的 SETBP1m VAF 与增殖特征相关（P = 0.07）。在多变量分析中，年龄≥70岁（p = 0.004）和外周血血细胞较高（p = 0.02）的患者OS较差。与Asp868m和Gly870m相比，Ile871m患者的OS较低（分别为5.5个月 vs. 17.4个月和17个月，p = 0.1）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Leukemia & Lymphoma 医学-血液学

CiteScore

4.10

自引率

3.80%

发文量

384

审稿时长

1.8 months

期刊介绍： Leukemia & Lymphoma in its fourth decade continues to provide an international forum for publication of high quality clinical, translational, and basic science research, and original observations relating to all aspects of hematological malignancies. The scope ranges from clinical and clinico-pathological investigations to fundamental research in disease biology, mechanisms of action of novel agents, development of combination chemotherapy, pharmacology and pharmacogenomics as well as ethics and epidemiology. Submissions of unique clinical observations or confirmatory studies are considered and published as Letters to the Editor