UNASSIGNED: @entity25937 ( @entity25937 ) entails a @entity5 predisposition and is caused by activating @entity8498 mutations, typically arising de novo in the paternal germline. @entity4053 is common in @entity25937 neonates. A previously reported individual with the rare @entity8498 @entity69734 had hyperinsulinemic @entity4053 . Autopsy showed a discrete pancreatic nodule. The morphologic and immunohistochemistry findings, including loss of @entity8755 ( @entity8755 ) protein, were identical to a focal lesion of @entity1717 , however, no @entity14225 or @entity11773 mutation was identified and germline derived DNA showed no alternation of the maternal or paternal 11p15 alleles. Here we report paternal @entity8882 , similar to the pUPD11p15.5 in @entity11123 ( @entity11123 ). The similar extent of the pUPD suggests a similar mechanism driving @entity3190 in both conditions. After coincidental somatic LOH and pUPD, the growth promoting effects of the paternally derived @entity8498 mutation, in combination with the increased function of the adjacent paternally expressed @entity5100 , may together result in @entity2214 . Although this somatic LOH within pancreatic tissue resulted in hyperinsulinism, similar LOH in mesenchymal cells may drive @entity2875 ( @entity2875 ). Interestingly, biallelic @entity5100 expression has been linked to @entity980 and pUPD11 occurred in all 8 @entity2875 samples from @entity25937 individuals. Somatic @entity984 and @entity8498 mutations occur with comparable frequency in @entity5 . Yet, the @entity5 risk in @entity25937 is notably higher than in @entity12697 with a @entity984 mutation. It is conceivable that @entity8498 co-localization with @entity5100 and the combined effect of pUPD 11p15.5 on both genes contributes to the oncogenic potential.    2015 Wiley Periodicals, Inc.

@entity8882 .5 in the pancreatic nodule of an infant with @entity25937 : Shared mechanism for hyperinsulinemic @entity4053 in neonates with Costello and XXXX and somatic loss of heterozygosity in @entity25937 driving @entity2214 .

@entity2214 :: ('MESH:D007945', 'Disease') :: ['clonal expansion'] @entity11773 :: ('6833', 'Gene') :: ['ABCC8'] @entity14225 :: ('3767', 'Gene') :: ['KCNJ11'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancer', 'isolated malignancies', 'malignancy'] @entity984 :: ('3845', 'Gene') :: ['KRAS'] @entity11123 :: ('MESH:D001506', 'Disease') :: ['BWS', 'Beckwith-Wiedemann syndrome'] @entity4053 :: ('MESH:D007003', 'Disease') :: ['hypoglycemia', 'Hypoglycemia'] @entity5100 :: ('3481', 'Gene') :: ['IGF2'] @entity1717 :: ('MESH:D044903', 'Disease') :: ['congenital hyperinsulinism'] @entity3190 :: ('MESH:D006946', 'Disease') :: ['hyperinsulinemia'] @entity8755 :: ('1028', 'Gene') :: ['Kip2', 'p57'] @entity69734 :: ('p|SUB|Q|22|K', 'ProteinMutation') :: ['p.Gln22Lys'] @entity2875 :: ('MESH:D018233', 'Disease') :: ['embryonal rhabdomyosarcoma', 'ERMS'] @entity980 :: ('MESH:D012208', 'Disease') :: ['rhabdomyosarcoma tumorigenesis'] @entity8498 :: ('3265', 'Gene') :: ['HRAS'] @entity8882 :: ('MESH:D024182', 'Disease') :: ['uniparental disomy (pUPD) within the lesion'] @entity12697 :: ('MESH:D009634', 'Disease') :: ['Noonan syndrome'] @entity25937 :: ('MESH:D056685', 'Disease') :: ['CS', 'Costello syndrome']
@entity11123 :: (MESH:D001506,Disease) :: ['Beckwith-Wiedemann syndrome']
