Bertrums Eline J M, Buijs Arjan, van Grotel Martine, Dors Natasja, de Rooij Jasmijn D E, de Haas Valerie, Hopman Sanne, Jongmans Marjolijn C J, Zwaan C M, van den Heuvel-Eibrink Marry M
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
University of Utrecht, Utrecht, The Netherlands.
Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26230. Epub 2016 Sep 26.
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). 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).
短暂性骨髓增殖性疾病（TMD）是一种通常发生于新生儿的白血病类型。在唐氏综合征中，TMD被称为短暂性异常髓系造血（TAM）。最近，在患有生殖系21三体嵌合体的急性髓系白血病患者中也有短暂性的报道，甚至在伴有或不伴有GATA1突变的体细胞21三体病例中也有发现。无21三体的TMD病例罕见，且几乎没有描述有助于临床决策的复发性基因畸变。我们在此描述一名无21三体或GATA1突变的TMD患者，对其白血病原始细胞进行单核苷酸多态性分析发现了一种新的复合亚显微缺失（5q31.1 - 5q31.3和8q23.2 - q24）。
