Nonaka Keisuke, Arakawa Akira, Hara Manato, Komatsu Akiko, Nagasaka Takuya, Kumasaka Toshio, Kamino Seiya, Rokutan Hirofumi, Shichi Yuuki, Murayama Shigeo, Kanemaru Kazutomi, Jubishi Chihiro, Futami Shutaro, Ishiwata Toshiyuki, Saito Yuko, Arai Tomio, Harada Kazumasa, Ishikawa Joji
Research Team for Geriatric Pathology, Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, JPN.
Department of Neuropathology (The Brain Bank for Aging Research), Tokyo Metropolitan Institute for Geriatrics and Gerontology, Tokyo, JPN.
Cureus. 2024 Sep 26;16(9):e70225. doi: 10.7759/cureus.70225. eCollection 2024 Sep.
Here, we present an autopsy case of long-standing myotonic dystrophy type 1 (DM1) in a patient who developed a pancreatic intraductal papillary mucinous neoplasm (IPMN). DM1 is a progressive genetic disorder that affects multiple organs, including the respiratory muscles. Several nationwide registry-based cohort studies have suggested that patients with DM1 have an increased risk of developing pancreatic cancers such as pancreatic ductal adenocarcinoma (PDAC). Pancreatic IPMNs are thought to progress from benign neoplasms to invasive cancers, and surgical specimens are usually required for the pathological diagnosis of pancreatic IPMNs. Although certain risk factors for developing pancreatic IPMNs reportedly overlap with those for PDAC, few cases of DM1 with pancreatic IPMNs have been reported. This is partly because pancreatectomy is associated with relatively high morbidity and mortality rates and few patients with DM1 who are suspected of having pancreatic IPMNs are candidates for surgical resection. Therefore, cases of DM1 with histopathologically diagnosed pancreatic IPMNs are rare, and the accumulation of such cases is important for understanding the association between DM1 and pancreatic IPMNs.
在此,我们报告一例长期患有1型强直性肌营养不良(DM1)的患者尸检病例,该患者罹患胰腺导管内乳头状黏液性肿瘤(IPMN)。DM1是一种累及包括呼吸肌在内的多个器官的进行性遗传性疾病。几项基于全国登记系统的队列研究表明,DM1患者罹患胰腺癌如胰腺导管腺癌(PDAC)的风险增加。胰腺IPMN被认为会从良性肿瘤进展为浸润性癌,胰腺IPMN的病理诊断通常需要手术标本。尽管据报道,发生胰腺IPMN的某些危险因素与PDAC的危险因素重叠,但很少有DM1合并胰腺IPMN的病例报道。部分原因是胰腺切除术的发病率和死亡率相对较高,很少有怀疑患有胰腺IPMN的DM1患者适合手术切除。因此,经组织病理学诊断为胰腺IPMN的DM1病例很少见,积累此类病例对于理解DM1与胰腺IPMN之间的关联很重要。