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Transient myeloproliferative disorder in neonates without Down syndrome: case report and review.
Journal article

Transient myeloproliferative disorder in neonates without Down syndrome: case report and review.

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  • 2014-05-24
Published in:
  • European journal of haematology. - 2015
Down syndrome
GATA1
non-Down transient leukaemia
transient leukaemia
transient myeloproliferative disorder
Down Syndrome
Humans
Infant, Newborn
Leukemoid Reaction
Male
Megakaryocyte Progenitor Cells
Platelet Transfusion
English 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 GATA1 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.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/231855
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