Molecular basis of thrombocytosis.

XWH - 05 - 1 - 0349 TITLE : Molecular Basis of Essential Thrombocytosis PRINCIPAL INVESTIGATOR :

Jak-2 mutation frequency in patients with thrombocytosis

Background: We aimed to investigate the etiologic causes and the existence of Janus kinase 2  mutation (JAK2) in cases with thrombocytosis. Methods: In this retrospective study, patients, who were admitted to hematology clinic with thrombocytosis between 2013 and 2015, were investigated in terms of the etiological causes of thrombocytosis and the existence of JAK2 mutation. Results: We retrospe...

A Case Report of Newborn with Thrombocytosis Born to an Opioid-addict Mother

Neonatal thrombocytosis is a very rare phenomenon in infants born to addict mothers. It can be due to opioids withdrawal and occurs a few days after delivery. The etiology is unknown and it is eradicated gradually without any complication. The reported neonate was born to a heroin addict mother who has used methadone during pregnancy. The neonate was admitted in 14th day of life in neonatal int...

Myelodysplastic/myeloproliferative neoplasms.

According to the World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues, myelodysplastic/myeloproliferative neoplasms are clonal myeloid neoplasms that have some clinical, laboratory, or morphologic findings that support a diagnosis of myelodysplastic syndrome, and other findings that are more consistent with myeloproliferative neoplasms. These disorders ...

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

The molecular basis of hereditary thrombocytosis is germline mutations affecting the thrombopoietin (TPO)/TPO receptor (MPL)/JAK2 signaling axis. Here, we report one family presenting two cases with a mild thrombocytosis. By sequencing JAK2 and MPL coding exons, we identified a germline MPL R102P heterozygous mutation in the proband and his daughter. Concomitantly, we detected high TPO levels i...