A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease

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• 作者：Eline J. M. Bertrums ; Arjan Buijs ; Martine van Grotel ; Natasja Dors ; Jasmijn D. E. de Rooij ; Valerie de Haas ; Sanne Hopman ; Marjolijn C. J. Jongmans ; C. M. Zwaan and Marry M. van den Heuvel-Eibrink
• 刊名：Pediatric Blood & Cancer
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：64
• 期：3
• 全文大小：451K
• ISSN：1545-5017

文摘

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).