Essential thrombocythemia with Mpl W515 K mutation in a child presenting with Budd-Chiari syndrome
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Taylor & Francis Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Essential thrombocythemia (ET) is an extremely rare childhood disorder characterised by clonal expansion of megakaryocytic lineage in bone marrow, leading to a persistent increase in the number of circulating thrombocytes and thus increased risk for thrombotic and haemorrhagic events. The molecular mechanisms of ET are not fully understood. Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. Herein, we describe a Mpl W515K somatic mutation in a paediatric case of ET who presented with Budd-Chiari syndrome. No paediatric patient harbouring a Mpl W515K mutation has been previously reported.
Açıklama
Anahtar Kelimeler
Budd-Chiari Syndrome, Essential Thrombocythemia, Mutation
Kaynak
Platelets
WoS Q Değeri
Q2
Scopus Q Değeri
Q1
Cilt
26
Sayı
8
