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Congenital GATA1-mutated myeloproliferative disorder in trisomy 21 complicated by placental fetal thrombotic vasculopathy.

作者信息

Loh Tracy J Z, Lian Derrick W Q, Iyer Prasad, Lam Joyce C M, Kuick Chik H, Aung Aye C L, Chang Kenneth Tou En

机构信息

Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.

Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.

出版信息

Hum Pathol. 2014 Nov;45(11):2364-7. doi: 10.1016/j.humpath.2014.07.019. Epub 2014 Aug 16.

DOI:10.1016/j.humpath.2014.07.019
PMID:25248574
Abstract

Congenital myeloproliferative disorders and transient leukemic disorders have been described in the perinatal period in infants with trisomy 21 (Down syndrome). We report a novel case of a neonate with trisomy 21 with GATA1-mutated congenital myeloproliferative disorder complicated by placental fetal thrombotic vasculopathy featuring chorionic vessel leukemic thrombi, fetal circulation vascular injuries, and large aggregates of avascular villi. These thrombotic and vasculopathic changes within the placenta are likely a reflection of the hypercoagulable state caused by the myeloproliferative disorder. Placental fetal thrombotic vasculopathy is associated with adverse outcomes for the infant, and should be documented during formal pathological examination of the placenta.

摘要

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