MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Centre for Haematology, Oxford, UK.
Oxford BRC Blood Theme, NIHR Oxford Biomedical Centre, Oxford, UK.
Br J Haematol. 2018 Jul;182(2):170-184. doi: 10.1111/bjh.15246. Epub 2018 May 28.
Neonatal leukaemia is defined as occurring within the first 28 days of life and most, if not all, cases are congenital. With the exception of Down syndrome-associated transient abnormal myelopoiesis, which is not considered here, neonatal leukaemias are rare. In two-thirds of patients the disease manifests as an acute myeloid leukaemia, frequently with monocytic/monoblastic characteristics. Most other cases are acute lymphoblastic leukaemia, particularly B lineage, but some are mixed phenotype or blastic plasmacytoid dendritic cell neoplasms. The most frequently observed cytogenetic/molecular abnormality is t(4;11)(q21.3;q23.3)/KMT2A-AFF1 followed by t(1;22)(p13.3;q13.1)/RBM15-MKL1 and t(8;16)(p11.2;p13.3)/KAT6A-CREBBP. Common clinical features include prominent hepatosplenomegaly and a high incidence of skin involvement, sometimes in the absence of bone marrow disease. A distinctive feature is the occurrence of spontaneous remission in some cases, particularly in association with t(8;16). In this review, we summarise current knowledge of the clinical, cytogenetic and molecular features of neonatal leukaemia and discuss clinical management of these cases.
新生儿白血病定义为发生在生命的头 28 天内，大多数（如果不是全部）病例为先天性。除了不在这里讨论的唐氏综合征相关的短暂性髓系白血病异常外，新生儿白血病很少见。三分之二的患者疾病表现为急性髓系白血病，常伴有单核细胞/单核细胞特征。大多数其他病例为急性淋巴细胞白血病，特别是 B 谱系，但有些是混合表型或原始浆细胞样树突细胞肿瘤。最常观察到的细胞遗传学/分子异常是 t(4;11)(q21.3;q23.3)/KMT2A-AFF1，其次是 t(1;22)(p13.3;q13.1)/RBM15-MKL1 和 t(8;16)(p11.2;p13.3)/KAT6A-CREBBP。常见的临床特征包括明显的肝脾肿大和皮肤受累的高发生率，有时在骨髓疾病不存在的情况下也会发生。一个显著特征是在某些情况下会自发缓解，特别是与 t(8;16)相关。在这篇综述中，我们总结了新生儿白血病的临床、细胞遗传学和分子特征的最新知识，并讨论了这些病例的临床管理。
