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Transient myeloproliferative disorder in neonates without Down syndrome: case report and review
Author(s) -
Schifferli Alexandra,
Hitzler Johann,
Bartholdi Deborah,
Heinimann Karl,
Hoeller Sylvia,
Diesch Tamara,
Kühne Thomas
Publication year - 2015
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12382
Subject(s) - trisomy , down syndrome , myeloproliferative disorders , medicine , population , aneuploidy , pathology , trisomy 8 , disease , pediatrics , immunology , chromosome , cytogenetics , genetics , biology , environmental health , psychiatry , gene
Abstract 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 GATA 1 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.