A Case of Polycythemia Vera Accompanied with Neurofibromatosis Type 1

作者：Pasa Semir^*; Altintas Abdullah; Bayan Kadim; Tuzun Yekta; Cil Timucin; Ayyildiz Orhan

来源：Uluslararasi Hematoloji-Onkoloji Dergisi, 2010, 20(1): 45-47.

• Neurofibromatosis
• NF1 gene
• Polycythemia vera

Classical myelofibrosis syndromes (MPS) most frequently occur in adults, but MPS unique to childhood also exist. Such syndromes include juvenile chronic myelomonocytic leukemia (JMML), the MPS of monosomy 7 in childhood, familial chronic myeloid leukemia (CML), the transient MPS of infants with trisomy 21, and childhood forms of myelofibrosis. Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with pigmentary abnormalities and are predisposed to benign and malignant neoplasms, mostly in children. MPSs were disproportionately common among children with NF1. Herein we reported a case of polycythemia vera (PV) accompanied to NF1 in an adult patient. The co-existance of NF1 and childhood MPS is a well known condition. The same relation was not demonstrated in adulthood NF1 patients according to our screening of the literature. Most of the reported cases were define a relation with JMML and monosomy 7 syndrome. Probably this is the first case of PV, a type of classic adult MPS accompanied to NF1.

• 出版日期2010-3