分子模式可以帮助对髓样肿瘤中的重叠实体分类？
Can molecular patterns help to classify overlapping entities in myeloid neoplasms?
影响因子:4.10000
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
摘要
髓样肿瘤包括骨髓增生性和骨髓增生性肿瘤和急性髓样白血病。从历史上看，这些疾病是基于临床病理学特征诊断出的，有时是任意阈值，即使分子特征逐渐被纳入其分类，这些疾病也持续存在。因此，尽管当前的诊断方法可以使用分子和临床病理学特征的组合准确地对大多数髓样肿瘤进行分类，但重叠的某些区域持续存在，有时会带来诊断挑战。这些包括跨BCR :: ABL1阴性脊髓增生性肿瘤的重叠；在不确定意义的克隆细胞质和骨髓增生性肿瘤之间；骨髓发育性/骨髓增生性肿瘤；并且，除肥大症以外的其他髓样肿瘤中检测试剂盒突变，从而增加了全身性肥大性的前景。分子测试已成为髓样肿瘤的诊断工作中的最新技术，如果在血液学表现的框架内考虑，分子模式可以固有地帮助对重叠实体进行分类。为了将来开发，已经提出了已经提出了分子测试的整个基因组和转录组测序，并且已经提出了主要是髓样肿瘤的分子分类。因此，遗传定义的组仍然应构成我们从早期发作到进展的疾病发展的基础，而临床病理学特征则可以用来描述疾病的阶段，而不是特定类型的髓样肿瘤。
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.