title: Prolonged extreme thrombocytosis associated with neurofibromatosis type 1.
abstract: A girl with neurofibromatosis type 1 showed in infancy extreme thrombocytosis with platelet counts exceeding 2000 x 10(9)/L. Platelet counts remained elevated the first 4 years of life. A large deletion located at chromosome 17q11 was observed. The transient thrombocythemia may relate to a regulator of megakaryocytopoiesis located in the vicinity of the NF1 gene or to the excessive risk of chronic myelomonocytic leukemia in neurofibromatosis.
authors.affiliation: Department of Pediatrics, Aarhus University Hospital, Denmark.
authors.forename: H
authors.initials: H
authors.lastname: Hasle
authors.forename: M
authors.initials: M
authors.lastname: Nir
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002908:Chronic Disease; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010976:Platelet Count; D013922:Thrombocytosis / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics