Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.

Background: Shwachman-Diamond syndrome (SDS) is characterized by hypoplasia of the bone marrow and exocrine pancreas and a high risk of leukemia. It is unknown whether solid tumors are part of the disease phenotype.

Procedure: We performed copy number alterations using Affymetrix human SNP 6.