کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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2802961 | 1156712 | 2012 | 5 صفحه PDF | دانلود رایگان |
ObjectiveAn increased prevalence of hematological abnormalities is reported in acromegaly, but to date no reports about the presence of the Janus Kinase (JAK) 2 mutation in acromegalic patients have been described.DesignWe report the complex clinical presentation of the unique case, never described, of acromegaly due to GH-secreting pituitary adenoma associated with JAK2 V617F mutation.ResultsThe patient shows primary thrombocythemia and myelofibrosis, due to JAK2 V617F mutation, severe visceromegaly and a peculiar clinical course of the disease characterized by discrepant values of GH and IGF-1 during somatostatin analog (SA) treatment despite a significant reduction in pituitary adenoma size and therapeutic resistance both to SA and pegvisomant.ConclusionsThe presence of JAK2 V617F mutation is a cause of primary thrombocythemia and myelofibrosis in acromegaly. In this patient, a peculiar clinical course of acromegaly was observed, with the difficulty in controlling the disease. More data, on a larger cohort of patients, could clarify whether JAK2 V617F mutation has a serious impact on the clinical features and course of acromegaly.
Journal: Growth Hormone & IGF Research - Volume 22, Issue 2, April 2012, Pages 92–96