Transient myeloproliferative disorder in neonates without Down syndrome: case report and review. (14th June 2014)

• Record Type: Journal Article
• Authors: Schifferli, Alexandra; Hitzler, Johann; Bartholdi, Deborah; Heinimann, Karl; Hoeller, Sylvia; Diesch, Tamara; Kühne, Thomas
• Is Part Of: European journal of haematology. Volume 94:Number 5(2015:May)
• Page Start: 456
• Page End: 462
• Publication Date: 2014-06-14
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; Blood -- Periodicals; 616.15005
• DOI: 10.1111/ejh.12382
• Languages: English
• ISSNs: 0902-4441

Abstract

<abstract abstract-type="main" id="ejh12382-abs-0001"> <title>Abstract</title> <p>Transient myeloproliferative disorder (TMD) is a clonal proliferation of megakaryoblasts, typically occurring in newborns with Down syndrome. It is believed that TMD occurs in the presence of <italic>GATA1</italic> mutation together with trisomy 21. However, a limited number of patients with TMD but without Down syndrome have been reported, all with a blast population with numeric or rarely structural chromosome 21 abnormalities. We present the first case of a newborn boy with a TMD without trisomy 21 and without any of the mentioned molecular or cytogenetic abnormalities. This case report suggests that unknown disease mechanisms may provoke or mimic TMD. This case report is followed by a concise review of the literature discussing the different entities and pathomechanisms of TMD and acute megakaryocytic leukaemia in patients with or without Down syndrome.</p> </abstract>