Nakaya Takeo, Kurata Atsushi, Hashimoto Hirotsugu, Nishimata Shigeo, Kashiwagi Yasuyo, Fujita Koji, Kawashima Hisashi, Kuroda Masahiko
Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan.
Pathol Int. 2014 Feb;64(2):75-80. doi: 10.1111/pin.12133.
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.
施瓦赫曼-戴蒙德综合征以胰腺脂肪变性、骨骼生长发育迟缓及血液系统功能障碍为特征，是一种由SBDS基因突变引起的先天性疾病。尽管血液系统疾病常伴随该综合征，但除了1例乳腺癌和1例中分化胰腺癌病例外，尚未有与该综合征相关的癌症报道。我们报告了1例24岁施瓦赫曼-戴蒙德综合征合并胰十二指肠癌患者的尸检情况。肿瘤组织学类型为未分化癌，似乎起源于胰管或十二指肠上皮。肿瘤伴有施瓦赫曼-戴蒙德综合征的两种特征性病理改变：胰腺脂肪变性和十二指肠绒毛间质炎症。鉴于SBDS蛋白调节有丝分裂，其抑制会导致基因组不稳定，该病例可能为在非常年轻的年龄基于基因组不稳定以及退行性改变和慢性炎症发生癌变提供了一个实例。
