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骨髓增殖性肿瘤背景下的髓外髓系白血病

英文原题:Extramedullary Myeloid Leukemia in the Setting of a Myeloproliferative Neoplasm.

PubMed 2022/11/27(内容时间) J Med Cases Q3 · IF 0.5(JCR 2025)

研究概要

髓外急性髓系白血病(EML),又称髓系肉瘤(MS),是源于骨髓外髓母细胞增殖的髓外实性肿块。

中文摘要

髓外急性髓系白血病(EML),又称髓系肉瘤(MS),是髓母细胞在骨髓外增殖形成的髓外实体肿块。EML可单独出现,也可与骨髓内急性髓系白血病(iAML)同时发生。其可为新发,也可继发于iAML、骨髓增殖性肿瘤(MPN)、慢性粒单核细胞白血病(CMML)或骨髓增生异常综合征(MDS)。本文报告一例57岁女性,既往有JAK-2阳性原发性血小板增多症(ET),在TP53突变持续存在的情况下进展为EML。我们讨论包括组织活检和氟代脱氧葡萄糖正电子发射断层扫描/计算机断层扫描(F-FDG PET/CT)在内的重要诊断检查,并探讨细胞遗传学和二代测序(NGS)的意义,以及其独特发病机制、治疗和预后影响。

展开英文摘要原文

Extramedullary acute myeloid leukemia (EML), also known as myeloid sarcoma (MS), is an extramedullary solid mass derived from the proliferation of myeloblasts outside of the bone marrow. EML can present independently or concurrently with intramedullary acute myeloid leukemia (iAML). It can happen de novo or secondary to iAML, myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome (MDS). We present a 57-year-old female with a history of Janus kinase 2 (JAK-2)-positive essential thrombocythemia (ET) evolving into EML in the setting of a persistent TP53 mutation. We discuss the essential diagnostic studies including tissue biopsy and fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) imaging. We also investigate the significance of cytogenetics and next-generation sequencing (NGS) along with the unique pathogenesis, treatment and prognostic implications.

论文信息

作者
Kosti J、Mervak T、Terebelo H
单位
Department of Hematology and Oncology, Ascension Providence Hospital, Southfield, Michigan and Michigan State University, East Lansing, MI, USA.United States
文献类型
病例报告
期刊
Journal of medical cases2022 Nov
原文标识
PubMed 36506761 · DOI 10.14740/jmc3996