随着分子诊断的进展,髓系肿瘤的分类继续发展,疾病的危险分层和治疗。疾病分类的方法以国际共识为基础,促进了理解,分子异质实体的识别和管理,以及随着时间的推移,能够将患者分层到临床试验和临床登记中。新的世界卫生组织(WHO)和国际共识分类(ICC)临床咨询委员会于2022年发布了针对骨髓性肿瘤的单独分类系统,这引起了当地和国际血液病理学同事的一些关注。虽然两种分类都强调分子疾病分类,而不是形态学的历史使用,流式细胞术和基于细胞遗传学的诊断方法,在形态学上存在显著差异,分子和细胞遗传学标准用于定义骨髓增生异常肿瘤(MDS)和急性髓性白血病(AML)。在这里,我们回顾了概念上的进步,诊断细微差别,以及使用新的WHO和ICC2022分类诊断MDS和AML所需的分子平台。我们为报告骨髓活检提供了共识建议。此外,我们根据澳大利亚和新西兰国家病理学认证咨询委员会的报告要求,解决了在常规实验室实践中实施这些变更时遇到的后勤挑战.
The classification of myeloid neoplasms continues to evolve along with advances in molecular diagnosis, risk stratification and treatment of disease. An approach for disease classification has been grounded in international
consensus that has facilitated understanding, identification and management of molecularly heterogeneous entities, as well as enabled consistent patient stratification into clinical trials and clinical registries over time. The new World Health Organization (WHO) and International
Consensus Classification (ICC) Clinical Advisory Committee releasing separate classification systems for myeloid neoplasms in 2022 precipitated some concern amongst haematopathology colleagues both locally and internationally. While both classifications emphasise molecular disease classification over the historical use of morphology, flow cytometry and cytogenetic based diagnostic methods, notable differences exist in how morphological, molecular and cytogenetic criteria are applied for defining myelodysplastic neoplasms (MDS) and acute myeloid leukaemias (AML). Here we review the conceptual advances, diagnostic nuances, and molecular platforms required for the diagnosis of MDS and AML using the new WHO and ICC 2022 classifications. We provide
consensus recommendations for reporting bone marrow biopsies. Additionally, we address the logistical challenges encountered implementing these changes into routine laboratory practice in alignment with the National Pathology Accreditation Advisory Council reporting requirements for Australia and New Zealand.