Nann Dominik, Fend Falko
Institute of Pathology and Neuropathology, University Hospital Tübingen, 72076 Tübingen, Germany.
Comprehensive Cancer Center, University Hospital Tübingen, 72076 Tübingen, Germany.
Cancers (Basel). 2021 Jul 14;13(14):3528. doi: 10.3390/cancers13143528.
The diagnosis of a myeloid neoplasm relies on a combination of clinical, morphological, immunophenotypic and genetic features, and an integrated, multimodality approach is needed for precise classification. The basic diagnostics of myeloid neoplasms still rely on cell counts and morphology of peripheral blood and bone marrow aspirate, flow cytometry, cytogenetics and bone marrow trephine biopsy, but particularly in the setting of Ph- myeloproliferative neoplasms (MPN), the trephine biopsy has a crucial role. Nowadays, molecular studies are of great importance in confirming or refining a diagnosis and providing prognostic information. All myeloid neoplasms of chronic evolution included in this review, nowadays feature the presence or absence of specific genetic markers in their diagnostic criteria according to the current WHO classification, underlining the importance of molecular studies. Crucial differential diagnoses of Ph- MPN are the category of myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement of , or , or with -, and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). This review focuses on morphological, immunophenotypical and molecular features of -negative MPN and their differential diagnoses. Furthermore, areas of difficulties and open questions in their classification are addressed, and the persistent role of morphology in the area of molecular medicine is discussed.
髓系肿瘤的诊断依赖于临床、形态学、免疫表型和基因特征的综合判断，需要采用综合的多模式方法进行精确分类。髓系肿瘤的基本诊断仍依赖于外周血和骨髓穿刺液的细胞计数及形态学检查、流式细胞术、细胞遗传学检查和骨髓活检，但特别是在Ph-骨髓增殖性肿瘤（MPN）的情况下，骨髓活检起着关键作用。如今，分子研究对于确诊或完善诊断以及提供预后信息至关重要。本综述中纳入的所有慢性进展性髓系肿瘤，根据当前世界卫生组织（WHO）分类，其诊断标准中都有特定基因标志物的有无，这凸显了分子研究的重要性。Ph- MPN的关键鉴别诊断包括伴有嗜酸性粒细胞增多及 、 或 基因重排，或伴有 -的髓系/淋系肿瘤类别，以及骨髓增生异常/骨髓增殖性肿瘤（MDS/MPN）。本综述重点关注Ph阴性MPN的形态学、免疫表型和分子特征及其鉴别诊断。此外，还讨论了其分类中的难点和未解决的问题，以及形态学在分子医学领域的持续作用。
