Janus kinase (JAK) 2 V617F mutation as the cause of primary thrombocythemia in acromegaly with severe visceromegaly and divergence between growth hormone and insulin-like growth factor-1 concentrations during the follow-up: causal or casual association?
Growth Horm IGF Res
; 22(2): 92-6, 2012 Apr.
Article
en En
| MEDLINE
| ID: mdl-22364960
ABSTRACT
OBJECTIVE:
An 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.DESIGN:
We report the complex clinical presentation of the unique case, never described, of acromegaly due to GH-secreting pituitary adenoma associated with JAK2 V617F mutation.RESULTS:
The 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.CONCLUSIONS:
The 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.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Acromegalia
/
Factor I del Crecimiento Similar a la Insulina
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Janus Quinasa 2
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Trombocitemia Esencial
/
Mutación
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Growth Horm IGF Res
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2012
Tipo del documento:
Article