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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.

Original publication

DOI

10.1111/bjh.15246

Type

Journal article

Journal

Br J Haematol

Publication Date

07/2018

Volume

182

Pages

170 - 184

Keywords

KMT2A , congenital leukaemia, neonatal leukaemia, spontaneous remission, Antineoplastic Agents, Dendritic Cells, Diagnosis, Differential, Exanthema, Gene Order, Histone-Lysine N-Methyltransferase, Humans, Infant, Newborn, Leukemia, Myeloid-Lymphoid Leukemia Protein, Remission, Spontaneous, Treatment Outcome