Clinicopathological Description from the Largest Series of Patients with the Novel Pro106Leu MPL gene Mutation Associated with Hereditary Thrombocythemia
Abstract:Background:
Hereditary thrombocythemia (HT) has been reported in Japanese and African populations in association with S505N, and N35K c-Mpl mutations, respectively. A novel Pro106Leu germ-line mutation in the c-Mpl gene has recently been shown to be associated with HT in Arabic population. Clinical and bone marrow (BM) features of Pro106Leu mutation are largely unknown.
Methods:
The molecular genetic databases at two tertiary hospitals in Riyadh, King Abdulaziz medi… Show more
“…A large series of 115 Arab patients with the MPL P106L mutation was presented recently. Homozygosity was associated with higher platelets counts and the risk of thrombosis appeared low 20 …”
Section: Figurementioning
confidence: 98%
“…Homozygosity was associated with higher platelets counts and the risk of thrombosis appeared low. 20 A further study of 64 patients with MPL mutations in familial thrombocytosis in the Saudi population is presented in this journal. 21 Of the group, 41% were <14 years at presentation.…”
“…Cytoreductive therapy to reduce the platelet count would generally be contraindicated in a germline disorder. However, there are recorded instances of the administration of hydrocarbamide either before the diagnosis 30 was clear or in an attempt to reduce the platelet count 17,20,45 . There is no information on efficacy.…”
Section: Managementmentioning
confidence: 99%
“…However, there are recorded instances of the administration of hydrocarbamide either before the diagnosis 30 was clear or in an attempt to reduce the platelet count. 17,20,45 There is no information on efficacy. In a patient with recurrent thrombotic events there would be an argument to try interferon to reduce the platelet count.…”
Thrombopoietin geneFollowing the isolation of the human thrombopoietin (THPO) gene in 1994, a number of THPO genetic alterations have been identified among autosomal dominant HT cases in Correspondence 1098
“…A large series of 115 Arab patients with the MPL P106L mutation was presented recently. Homozygosity was associated with higher platelets counts and the risk of thrombosis appeared low 20 …”
Section: Figurementioning
confidence: 98%
“…Homozygosity was associated with higher platelets counts and the risk of thrombosis appeared low. 20 A further study of 64 patients with MPL mutations in familial thrombocytosis in the Saudi population is presented in this journal. 21 Of the group, 41% were <14 years at presentation.…”
“…Cytoreductive therapy to reduce the platelet count would generally be contraindicated in a germline disorder. However, there are recorded instances of the administration of hydrocarbamide either before the diagnosis 30 was clear or in an attempt to reduce the platelet count 17,20,45 . There is no information on efficacy.…”
Section: Managementmentioning
confidence: 99%
“…However, there are recorded instances of the administration of hydrocarbamide either before the diagnosis 30 was clear or in an attempt to reduce the platelet count. 17,20,45 There is no information on efficacy. In a patient with recurrent thrombotic events there would be an argument to try interferon to reduce the platelet count.…”
Thrombopoietin geneFollowing the isolation of the human thrombopoietin (THPO) gene in 1994, a number of THPO genetic alterations have been identified among autosomal dominant HT cases in Correspondence 1098
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