Tzankov Alexandar, Reichard Kaaren K, Hasserjian Robert P, Arber Daniel A, Orazi Attilio, Wang Sa A
Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Department of Laboratory Medicine and Pathology, Mayo Clinic, NY, Rochester, USA.
Virchows Arch. 2023 Jan;482(1):85-97. doi: 10.1007/s00428-022-03402-8. Epub 2022 Sep 7.
This review addresses changes and updates in eosinophilic disorders under the International Consensus Classification (ICC). The previous category of myeloid/lymphoid neoplasm with eosinophilia (M/LN-eo) and a specific gene rearrangement is changed to M/LN-eo with tyrosine kinase gene fusions to reflect the underlying genetic lesions. Two new members, M/LN-eo with ETV6::ABL1 fusion and M/LN-eo with various FLT3 fusions, have been added to the category; and M/LN-eo with PCM1::JAK2 and its genetic variants ETV6::JAK2 and BCR::JAK2 are recognized as a formal entity from their former provisional status. The updated understanding of the clinical and molecular genetic features of PDGFRA, PDGFRB and FGFR1 neoplasms is summarized. Clear guidance as to how to distinguish these fusion gene-associated disorders from the overlapping entities of Ph-like B-acute lymphoblastic leukemia (ALL), de novo T-ALL, and systemic mastocytosis is provided. Bone marrow morphology now constitutes one of the diagnostic criteria of chronic eosinophilic leukemia, NOS (CEL, NOS), and idiopathic hypereosinophilia/hypereosinophilic syndrome (HE/HES), facilitating the separation of a true myeloid neoplasm with characteristic eosinophilic proliferation from those of unknown etiology and not attributable to a myeloid neoplasm.
本综述阐述了国际共识分类（ICC）下嗜酸性粒细胞疾病的变化与更新。之前的伴有嗜酸性粒细胞增多的髓系/淋系肿瘤（M/LN-eo）及特定基因重排类别，现变更为伴有酪氨酸激酶基因融合的M/LN-eo，以反映潜在的基因病变。该类别新增了两个成员，即伴有ETV6::ABL1融合的M/LN-eo和伴有各种FLT3融合的M/LN-eo；伴有PCM1::JAK2及其基因变体ETV6::JAK2和BCR::JAK2的M/LN-eo从其先前的临时状态被认定为一个正式实体。总结了对血小板衍生生长因子受体α（PDGFRA）、血小板衍生生长因子受体β（PDGFRB）和成纤维细胞生长因子受体1（FGFR1）肿瘤的临床和分子遗传学特征的最新认识。提供了关于如何将这些融合基因相关疾病与费城样B淋巴细胞白血病（B-ALL）、原发T淋巴细胞白血病（T-ALL）和系统性肥大细胞增多症的重叠实体相区分的明确指导。骨髓形态学现已成为慢性嗜酸性粒细胞白血病，NOS（CEL，NOS）和特发性嗜酸性粒细胞增多症/高嗜酸性粒细胞综合征（HE/HES）的诊断标准之一，有助于将具有特征性嗜酸性粒细胞增殖的真正髓系肿瘤与病因不明且不归因于髓系肿瘤的疾病区分开来。
