title: Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
abstract: Shwachman-Diamond syndrome, which is characterized by pancreatic fatty degeneration, skeletal growth retardation, and hematological dysfunction, is a congenital disease caused by SBDS gene mutations. Although hematological disorders often accompany this syndrome, carcinomas associated with this syndrome have not been reported except in one breast cancer and one moderately differentiated pancreatic cancer case. We report on an autopsy of a 24-year-old case of pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. The histology of the tumor was undifferentiated carcinoma, which seems to have originated from either the pancreatic duct or the duodenal epithelium. The tumor was intermingled with two pathological changes characteristic of Shwachman-Diamond syndrome: fatty degeneration of the pancreas and inflammation of the villous stroma of the duodenum. Considering that SBDS protein regulates mitosis and its suppression causes genomic instability, this case might provide an example of carcinogenesis based on genomic instability, together with degenerative changes and chronic inflammation, at a very young age.
authors.affiliation: Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan.
authors.forename: Takeo
authors.initials: T
authors.lastname: Nakaya
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kurata
authors.forename: Hirotsugu
authors.initials: H
authors.lastname: Hashimoto
authors.forename: Shigeo
authors.initials: S
authors.lastname: Nishimata
authors.forename: Yasuyo
authors.initials: Y
authors.lastname: Kashiwagi
authors.forename: Koji
authors.initials: K
authors.lastname: Fujita
authors.forename: Hisashi
authors.initials: H
authors.lastname: Kawashima
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kuroda
mesh_terms: D001855:Bone Marrow Diseases / Q000150:complications / Q000473:pathology*; D002277:Carcinoma / Q000150:complications / Q000473:pathology*; D004379:Duodenal Neoplasms / Q000150:complications / Q000473:pathology*; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D008068:Lipomatosis / Q000150:complications / Q000473:pathology*; D008297:Male; D010190:Pancreatic Neoplasms / Q000150:complications / Q000473:pathology*; D000081003:Shwachman-Diamond Syndrome; D055815:Young Adult
keywords: Shwachman-Diamond syndrome; fatty degeneration of pancreas; pancreatoduodenal carcinoma; undifferentiated carcinoma; villous blunting of duodenum