A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease
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Publication date
2017-03-01
Authors
Bertrums, Eline J M
Buijs, Arjan
van Grotel, Martine
Dors, Natasja
de Rooij, Jasmijn D E
de Haas, V
Hopman, Sanne
Jongmans, Marjolijn C J
Zwaan, C M
van den Heuvel-Eibrink, Marry
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taverne
Abstract
Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).(32) Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31.1-5q31.3 and 8q23.2q24).
Keywords
Down syndrome, EXT1, GATA1, non-Down syndrome, transient abnormal myelopoiesis, transient leukemia, transient myeloproliferative disease, transient myeloproliferative disorder, trisomy 21, Taverne, Journal Article, Case Reports
Citation
Bertrums, E J M, Buijs, A, van Grotel, M, Dors, N, de Rooij, J D E, de Haas, V, Hopman, S, Jongmans, M C J, Zwaan, C M & van den Heuvel-Eibrink, M M 2017, 'A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease', Pediatric Blood & Cancer, vol. 64, no. 3, e26230. https://doi.org/10.1002/pbc.26230