Histopathology of XXXX : retrospective study with genotype correlations.

@entity1 @entity11773 @entity14225 @entity4053 @entity1717 @entity3190 @entity74 @entity972 @entity855
The majority of the most severe cases of @entity1717 ( @entity3190 ) are caused by defects in the beta-cell @entity855 ( @entity855 )-sensitive @entity972 channel and usually require pancreatectomy to control blood sugar levels. In contrast to the recent advances in understanding the pathophysiology and genetic bases of @entity3190 , the histologic classification of this condition remains controversial. A recent proposal to classify the @entity3190 pancreata into diffuse and focal forms has drawn much interest because of its relative simplicity and its good correlation with the @entity74 . We undertook a retrospective study to determine whether this classification scheme could be applied to 38 pancreata resected for @entity3190 at our institution. We also obtained leukocyte genomic DNA from 29 cases and screened the exons of @entity11773 and @entity14225 genes for the presence of mutations. Nineteen cases (50.0%) were histologically classified as diffuse @entity3190 and 14 cases (36.8%) were categorized as focal form. The mutational analysis revealed that 14 of the 16 diffuse cases analyzed had either homozygous or compound heterozygous mutations of @entity11773 or @entity14225 and 7 of 10 focal cases had only the paternally inherited mutations, consistent with the previous observations. Two @entity1 (5.3%) had normal pancreatic histology but had persistent @entity4053 postoperatively, leaving the possibility of residual focal lesion. Three of 38 cases (7.9%) did not fit well into either diffuse or focal category. Two cases differed from the described pattern for the diffuse form in that the nuclear enlargement was confined to a single area of the pancreas. The other case had a focal lesion but beta-cell nuclear enlargement was present in nonadjacent areas. Mutations for typical diffuse or focal @entity3190 were not identified in two of these three equivocal cases. We conclude from this study that nearly 90% of @entity3190 cases can be classified into either a diffuse or a focal form. However, a small percentage of cases represented a diagnostic challenge.
