骨髓肿瘤包括骨髓增生性肿瘤和骨髓增生异常肿瘤以及急性髓性白血病。从历史上看，这些疾病是根据临床病理学特征进行诊断的，有时具有任意阈值，即使分子特征逐渐纳入其分类中，这些阈值仍然持续存在。因此，尽管当前的诊断方法可以结合分子和临床病理学特征对大多数髓系肿瘤进行准确分类，但某些重叠领域仍然存在，有时会带来诊断挑战。其中包括 BCR::ABL1 阴性骨髓增生性肿瘤的重叠；意义未明的克隆性血细胞减少症与骨髓增生异常肿瘤之间的关系；骨髓增生异常/骨髓增生性肿瘤；并且，在肥大细胞增多症以外的骨髓肿瘤中检测到 KIT 突变，提高了系统性肥大细胞增多症的前景。分子检测已成为骨髓肿瘤诊断检查的最先进技术，如果在血液学表现的框架内考虑，分子模式本质上可以帮助对重叠实体进行分类。对于未来的发展，分子测试可能包括全基因组和转录组测序，并且已经提出了骨髓肿瘤的主要分子分类。因此，基因定义的群体仍应构成我们理解从早期发病到进展的疾病发展的基础，而临床病理学特征可用于描述疾病的阶段而不是特定类型的髓系肿瘤。© 2024 作者（s）。组织病理学由约翰·威利出版

Myeloid neoplasms include myeloproliferative and myelodysplastic neoplasms and acute myeloid leukaemia. Historically, these diseases have been diagnosed based on clinicopathological features with sometimes arbitrary thresholds that have persisted even as molecular features were gradually incorporated into their classification. As such, although current diagnostic approaches can classify the majority of myeloid neoplasms accurately using a combination of molecular and clinicopathological features, some areas of overlap persist and occasionally pose diagnostic challenges. These include overlap across BCR::ABL1-negative myeloproliferative neoplasms; between clonal cytopenia of undetermined significance and myelodysplastic neoplasms; myelodysplastic/myeloproliferative neoplasms; and, detection of KIT mutations in myeloid neoplasms other than mastocytosis, raising the prospect of systemic mastocytosis. Molecular testing has become state of the art in the diagnostic work-up of myeloid neoplasms, and molecular patterns can inherently help to classify overlapping entities if considered within a framework of haematological presentations. For future development, molecular testing will likely include whole genome and transcriptome sequencing, and primarily molecular classifications of myeloid neoplasms have already been suggested. As such, genetically defined groups should still constitute the basis for our understanding of disease development from early onset to progression, while clinicopathological features could then be used to describe the stage of the disease rather than the specific type of myeloid neoplasm.© 2024 The Author(s). Histopathology published by John Wiley & Sons Ltd.