TABLE 1

Clinical and genetic characteristics of the patients, together with the findings in PET scan, pancreatic catheterization, surgery, and histology

PatientAge at diagnosis/PETABCC8 mutationResponse to medicationGlucose need (mg/kg/min)PETPVS/PACSSurgery/histology
1Neonatal/6 monthsV187D (561T>A) (Paternal)Dzx−, Octr +12.3focal/headfocal/headfocal resection/posterior neck PAD: focus 6.8 × 4 mm
24 months/13 monthsV187D (561T>A) (Paternal)Dzx−, Octr +9.5focal/bodyfocal/bodyfocal resection/body PAD: focus 5 × 4 mm
3Neonatal/6 monthsG1469V (4408G>T) (Paternal)Dzx−, Octr +12.7focal/headfocal/headfocal resection/head PAD: focus 8 × 5 mm
4Neonatal/3.5 yearsV187D (561T>A) (Paternal)Dzx−, Octr +12.7diffusediffuse*ND
5Neonatal/6 monthsA113V (338C>T) (Paternal)Dzx−, Octr +12.7diffusediffuseNear-total pancreatectomy PAD: diffuse histology
6Neonatal/5 yearsNo mutationsDzx +6.5diffusediffuse*ND
73 months/4 yearsNo mutationsDzx +6.5diffuseNDPancreas biopsy PAD: diffuse histology
8Neonatal/9 monthsG92D (275G>A)Dzx−, Octr +10.3diffuseNDNear-total pancreatectomy PAD: diffuse histology
9Neonatal/1 monthV187D (561T>A) (Paternal)Dzx−, Octr−20focal/headNDfocal resection/uncinate process PAD: focus 8 × 4 mm
10Neonatal/2 monthsNo mutationsDzx partial, Octr +6.2diffuseNDND
115 months/13 monthsV187D (561T>A) (Paternal)Dzx−, Octr +6.4diffusediffuseND
12Neonatal/1.5 monthsG474A (de novo)Dzx−, Octr +15.9diffuseNDNear-total pancreatectomy PAD diffuse;
13Neonatal/3 monthsC418R (1252T>C) (Maternal)Dzx−, Octr +26focal/bodyNDfocal resection/body PAD: focus 10 × 6 mm
14Neonatal/6 monthsA113V (338C>T) (Paternal)Dzx−, Octr +13diffuseNDND
  • The glucose need refers to the glucose infusion rate that was required to maintain normoglycemia at the time of the PET scan. *PACS instead of PVS. Dzx, diazoxide; ND, not done; Octr, octreotide.