Pancreatoblastoma in Elderly Adults: Report of Two Patients

Abstract

Introduction. Pancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas, which often shows multiple lines of differentiation, but is defined by neoplastic cells with acinar differentiation and characteristic squamoid nests. Pediatric patients are most commonly affected, and although a subset is known to occur in adults, the diagnosis is rarely considered in elderly adults. Methods. The clinicopathologic features of two cases of pancreatoblastoma in elderly patients were examined. Results. Two patients (age 80 and 81 years) presented with pancreatoblastoma, including one with early-stage pancreatic disease and one with liver metastasis. Biopsies and one pancreatic resection specimen showed characteristic histomorphologic features, including prominent acinar differentiation and abundant squamoid nests. Both cases had complete loss of SMAD4 (DPC4) immunolabeling. Next generation sequencing was performed on one case and revealed copy number loss of chromosome 11p and 9p21 ( CDKN2A/B) and pathogenic or likely pathogenic variants in APC, SMAD4, and PIK3CA. The APC and SMAD4 variants occurred at allele frequencies suggestive of germline mutations, raising the possibility that this patient may have an inherited cancer predisposition syndrome. Conclusions. We present two cases which extend the upper age limit for reported pancreatoblastoma, including one with genetic findings suggestive of an inherited cancer predisposition syndrome.