Abstract：
Precise subclassification of myeloid malignancies per the World Health Organization (WHO) classification system and the International Consensus Classification of Myeloid Neoplasms and Acute Leukaemias (ICC) requires investigation and documentation of the presence of cytogenetic and/or molecular genetic changes. These ancillary studies not only help in diagnosis, but also the prognosis of disease; however, they take time to be completed. In contrast, morphological evaluation of material from the blood and bone marrow specimens of cases where myeloid malignancies are suspected is usually completed quickly. Cytomorphological assessment may predict genetic changes and can be helpful in triaging acuity. This is especially true in haematological emergencies such as acute promyelocytic leukaemia (APL), where prompt APL-specific therapy can be life changing. Similarly, some morphological clues may help identify core binding factor leukaemias where a diagnosis of acute myeloid leukaemia (AML) could be rendered without reaching the 20% blast cutoff with immediate treatment-decision implications, or even a subset of cases of AML with FLT3 ITD/NPM1 mutation(s) which show characteristic features. Even though FISH/cytogenetics and/or PCR are still required for establishing the final diagnosis, evaluation for the presence of specific cytomorphological features that help predict genetic changes can be a useful tool to help guide early therapy.
摘要：
根据世界卫生组织（WHO）分类系统和髓样肿瘤和急性白血病国际共识分类（ICC），髓样恶性肿瘤的精确亚分类需要对细胞遗传学和/或分子遗传学变化的存在进行调查和记录。这些辅助研究不仅有助于诊断，还有疾病的预后；然而，他们需要时间来完成。相比之下,对于怀疑有髓样恶性肿瘤的病例，血液和骨髓标本的形态学评估通常可以迅速完成。细胞形态学评估可以预测遗传变化，并有助于分类敏锐度。在急性早幼粒细胞白血病（APL）等血液学紧急情况中尤其如此。及时的APL特异性治疗可以改变生活。同样，一些形态学线索可能有助于识别核心结合因子白血病，其中急性髓性白血病（AML）的诊断可以在不达到20％blast截止值的情况下进行，并具有立即的治疗决策意义。或甚至一组具有FLT3ITD/NPM1突变的AML病例，这些突变表现出特征性特征。即使FISH/细胞遗传学和/或PCR仍然需要建立最终诊断，评估特定细胞形态学特征的存在有助于预测遗传变化,可以成为指导早期治疗的有用工具.
