title: Collision of extensive exocrine and neuroendocrine neoplasms in multiple endocrine neoplasia type 1 revealed by cytogenetic analysis of loss of heterozygosity: a case report.
abstract: The combination of exocrine and neuroendocrine neoplasms is rarely found in the pancreas. These combined lesions vary from a clonal tumor with mixed differentiation to the incidental co-existence of two or more independent tumors, but the differential diagnosis is sometimes difficult. Here we report a case of multiple endocrine neoplasia type 1 (MEN1) with extensive ductal and neuroendocrine neoplastic changes. These two types of tumors admixed markedly in some parts, which made it difficult to determine the pathological diagnosis based on histological findings. Cytogenetic analysis showed that loss of heterozygosity (LOH) of the MEN1 locus exists in neuroendocrine but not in exocrine neoplasms, indicating that independent mechanisms of tumorigenesis may occur in these two types of tumors. This case shows the usefulness of cytogenetic analysis for the diagnosis of combined tumors of the pancreas. Extensive exocrine neoplastic change, including pancreatic intraepithelial neoplasia (PanIN) in virtually all pancreatic ducts and a focus of intraductal papillary mucinous neoplasm (IPMN) with focal invasion, was a distinguishing feature of the present case. The possible association of ductal tumorigenesis and a MEN1 background is discussed.
authors.affiliation: Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan.
authors.forename: Koki
authors.initials: K
authors.lastname: Moriyoshi
authors.forename: Sachiko
authors.initials: S
authors.lastname: Minamiguchi
authors.forename: Aya
authors.initials: A
authors.lastname: Miyagawa-Hayashino
authors.forename: Masakazu
authors.initials: M
authors.lastname: Fujimoto
authors.forename: Michiya
authors.initials: M
authors.lastname: Kawaguchi
authors.forename: Hironori
authors.initials: H
authors.lastname: Haga
mesh_terms: D000368:Aged; D002278:Carcinoma in Situ / Q000235:genetics / Q000473:pathology*; D018278:Carcinoma, Neuroendocrine / Q000235:genetics / Q000473:pathology*; D020732:Cytogenetic Analysis / Q000379:methods; D005260:Female; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics*; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D046790:Pancreas, Exocrine / Q000473:pathology; D010183:Pancreatic Ducts / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000235:genetics / Q000473:pathology*
keywords: loss of heterozygosity; multiple endocrine neoplasia type 1; neuroendocrine tumors; pancreatic ductal carcinoma