title: Congenital GATA1-mutated myeloproliferative disorder in trisomy 21 complicated by placental fetal thrombotic vasculopathy.
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.
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.
authors.forename: Tracy J Z
authors.initials: TJ
authors.lastname: Loh
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore. Electronic address: Derrick.Lian.WQ@kkh.com.sg.
authors.forename: Derrick W Q
authors.initials: DW
authors.lastname: Lian
authors.affiliation: Haematology-Oncology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.
authors.forename: Prasad
authors.initials: P
authors.lastname: Iyer
authors.affiliation: Haematology-Oncology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.
authors.forename: Joyce C M
authors.initials: JC
authors.lastname: Lam
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.
authors.forename: Chik H
authors.initials: CH
authors.lastname: Kuick
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.
authors.forename: Aye C L
authors.initials: AC
authors.lastname: Aung
authors.affiliation: Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Republic of Singapore.
authors.forename: Kenneth Tou En
authors.initials: KT
authors.lastname: Chang
mesh_terms: D000328:Adult; D004314:Down Syndrome / Q000150:complications* / Q000473:pathology; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D006801:Humans; D007223:Infant; D009196:Myeloproliferative Disorders / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013927:Thrombosis / Q000139:chemically induced / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D014652:Vascular Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human
keywords: Congenital myeloproli-ferative disorder; Fetal thrombotic vasculopathy; GATA1 mutation; Placental pathology; Trisomy 21 (Down syndrome)