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Developing a classification of hematologic neoplasms in the era of precision medicine.
Blood ( IF 21.0 ) Pub Date : 2022-09-15 , DOI: 10.1182/blood.2022015849
Mario Cazzola 1 , Laurie H Sehn 2
Affiliation  

The recently developed International Consensus (IC) classification of hematologic neoplasms is primarily based on input from clinical advisory committees composed of pathologists, hematologists, oncologists, and genomic scientists. Morphology continues to represent a fundamental element in the definition of hematologic neoplasms. Acknowledging that the abnormal morphology is a result of dysregulated hematopoiesis driven by somatic gene mutations or altered expression, the IC classification considers genomic features more extensively. Defining nosologic entities based on underlying molecular mechanism(s) of disease is fundamental for enabling the development of precision treatments. Because translational and clinical research continuously advance the field, the classification of hematologic neoplasms will need to be regularly refined and updated; the basic question is what mechanism should be used for this purpose. Scientific hematopathology societies, in collaboration with hematology societies, should be primarily responsible for establishing a standing International Working Group, which would in turn collaborate with the World Health Organization (WHO)/International Agency for Research on Cancer (IARC) to realize and disseminate the classification. The current classification, with its strong morphology component, represents a basis for refinement. Through data sharing, the creation of large comprehensive patient data sets will allow the use of methods of inference, including statistical analyses and machine learning models, aimed at further identifying distinct disease subgroups. A collaborative clinico-pathologic review process will provide a mechanism for updating pathologic and genomic criteria within a clinical context. An interactive Web-based portal would make the classification more immediately available to the scientific community, while providing accessory features that enable the practical application of diagnostic, prognostic, and predictive information.

中文翻译:

在精准医学时代制定血液肿瘤的分类。

最近制定的血液肿瘤国际共识 (IC) 分类主要基于由病理学家、血液学家、肿瘤学家和基因组科学家组成的临床咨询委员会的意见。形态学继续代表血液肿瘤定义的基本要素。认识到异常形态是由体细胞基因突变或表达改变驱动的造血功能失调的结果,IC 分类更广泛地考虑了基因组特征。根据疾病的潜在分子机制定义疾病分类实体是实现精准治疗发展的基础。由于转化和临床研究不断推进该领域,血液肿瘤的分类需要定期完善和更新;基本问题是应为此目的使用何种机制。科学血液病理学会应与血液学会合作,主要负责建立一个常设国际工作组,该工作组将与世界卫生组织 (WHO)/国际癌症研究机构 (IARC) 合作,以实现和传播分类。当前的分类具有强大的形态学成分,代表了细化的基础。通过数据共享,创建大型综合患者数据集将允许使用推理方法,包括统计分析和机器学习模型,旨在进一步识别不同的疾病亚组。协作的临床病理审查过程将提供一种机制,用于在临床环境中更新病理和基因组标准。基于 Web 的交互式门户将使科学界更直接地获得分类,同时提供辅助功能,使诊断、预后和预测信息的实际应用成为可能。
更新日期:2022-07-12
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