骨髓增生性肿瘤
中性粒细胞
髓样
血液病理学
骨髓纤维化
骨髓增生异常综合症
发育不良
白细胞增多症
慢性粒单核细胞白血病
医学
单核细胞增多
免疫分型
骨髓
病理
免疫学
生物
细胞遗传学
遗传学
染色体
流式细胞术
基因
作者
Tania Jain,Alisha D. Ware,W. Brian Dalton,Sergiu Paşca,Hua‐Ling Tsai,Christopher D. Gocke,Lukasz P. Gondek,Rena R. Xian,Michael J. Borowitz,Mark J. Levis
标识
DOI:10.1016/j.leukres.2023.107345
摘要
Identification of genomic signatures with consistent clinicopathological features in myelodysplastic/myeloproliferative neoplasm (MDS/MPN) is critical for improved diagnosis, elucidation of biology, inclusion in clinical trials, and development of therapies. We describe clinical and pathological features with co-existence of mutations in ASXL1 (missense or nonsense), SRSF2, and SKI homologous region of SETBP1, in 18 patients. Median age was 68 years with a male predominance (83%). Leukocytosis and neutrophilia were common at presentation. Marrow features included hypercellularity, granulocytic hyperplasia with megakaryocytic atypia, while the majority had myeloid hyperplasia and/or erythroid hypoplasia, myeloid dysplasia, and aberrant CD7 expression on blasts. Mutations in growth signaling pathways (RAS or JAK2) were noted at diagnosis or acquired during the disease course in 83% of patients. Two patients progressed upon acquisition of FLT3-TKD (acute myeloid leukemia) or KIT (aggressive systemic mastocytosis) mutations. The prognosis is poor with only two long-term survivors, thus far, who underwent blood or marrow transplantation. We propose that the presence of co-occurring ASXL1, SRSF2, and SETBP1 mutations can be diagnostic of a subtype of MDS/MPN with neutrophilia if clinical and morphological findings align. Our report underscores the association between genotype and phenotype within MDS/MPN and that genomic signatures should guide categorization of these entities.
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