Transient myeloproliferative disorder in neonates without Down syndrome: case report and review |
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Authors: | Alexandra Schifferli Johann Hitzler Deborah Bartholdi Karl Heinimann Sylvia Hoeller Tamara Diesch Thomas Kühne |
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Affiliation: | 1. Department of haematology/oncology, University Children's Hospital Basel, Basel, Switzerland;2. Department of haematology/oncology, The Hospital for Sick Children, Toronto, Canada;3. Department of genetic, Klinikum Stuttgart, Stuttgart, Germany;4. Department of genetic, University Hospital Basel, Basel, Switzerland;5. Department of pathology, University Hospital Basel, Basel, Switzerland |
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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 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. |
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Keywords: | transient myeloproliferative disorder non‐Down transient leukaemia GATA1 transient leukaemia Down syndrome |
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