Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
作者： P de Lonlay , J C Fournet , J Rahier , M S Gross-Morand , F Poggi-Travert
DOI: 10.1172/JCI119594
关键词:
摘要: Sporadic persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or nesidioblastosis is a heterogeneous disorder characterized by profound due to inappropriate hypersecretion insulin. An important diagnostic goal distinguish patients with focal hyperplasia islet cells the pancreas (FoPHHI) from those diffuse abnormality islets (DiPHHI) because management strategies differ significantly. 16 infants sporadic PHHI resistant diazoxide and who underwent pancreatectomy were investigated. Selective pancreatic venous sampling coupled peroperative surgical examination analysis extemporaneous frozen sections allowed us identify 10 cases FoPHHI 6 DiPHHI. We show here that in FoPHHI, but not DiPHHI, there was specific loss maternal alleles imprinted chromosome region 11p15 hyperplastic area normal cells. This somatic event consistent proliferative monoclonal lesion. It involves disruption balance between monoallelic expression several maternally paternally expressed genes. Thus, we provide first molecular explanation heterogeneity forms such it possible perform only partial pancreatectomy, limited lesion, so as avoid iatrogenic diabetes adenomatous hyperplasia.
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