Review

分子模式是否有助于分类髓系肿瘤中的重叠实体？

Can molecular patterns help to classify overlapping entities in myeloid neoplasms?

DOI 原文链接

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HISTOPATHOLOGY

影响因子:4.1

分区:医学2区 / 细胞生物学2区病理学2区

发表日期:2025 Jan

作者: Gregor Hoermann, Joseph D Khoury

DOI: 10.1111/his.15339

摘要

髓系肿瘤包括骨髓增生异常和髓样发育不良性肿瘤以及急性髓性白血病。这些疾病历来根据临床病理特征进行诊断，有时采用较为任意的阈值，尽管分子特征逐渐被纳入其分类体系中。现有的诊断方法能较为准确地结合分子和临床病理特征对大多数髓系肿瘤进行分类，但某些重叠区域仍存在且偶尔会带来诊断挑战。这些重叠区域包括BCR::ABL1阴性的骨髓增生异常；不明确意义的克隆性血细胞减少与髓样发育不良的交叉；髓样增殖/发育不良性肿瘤之间的界限；以及在除肥大细胞瘤以外的髓系肿瘤中检测到KIT突变，提示系统性肥大细胞瘤的可能性。分子检测已成为髓系肿瘤诊断的前沿技术，分子模式在考虑血液表现的框架内，天然可以帮助分类重叠实体。未来，分子检测可能包括全基因组和转录组测序，且已有建议采用主要的髓系肿瘤分子分类。因此，基因定义的分组仍应是我们理解疾病从早发到进展的基础，而临床病理特征可以用来描述疾病的阶段，而非具体的髓系肿瘤类型。

Abstract

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.