Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Clin Genet. 2012 Dec;82(6):558-63. doi: 10.1111/j.1399-0004.2011.01805.x. Epub 2011 Nov 29.
We explored pancreatic neuroendocrine tumors (PanNETs) associated with tuberous sclerosis complex (TSC) to determine their incidence in the TSC population; define their clinical, radiological, and pathological characteristics; and investigate their association with underlying genotypes. Retrospectively reviewed abdominal imaging of 219 patients with TSC, evaluating the incidence, size, and architecture of pancreatic lesions. Pathology records at Massachusetts General Hospital (MGH) were reviewed for all PanNET diagnoses in patients with TSC. Literature was reviewed for TSC-related PanNET cases. Nine patients with TSC were found to have a pancreatic lesion(s) on abdominal imaging and six patients have been diagnosed with a PanNET by pathology at MGH. Twelve cases of TSC-associated PanNETs have been reported in the literature. Of these 18 PanNET cases, one third were cystic, and the average age at resection was 26 years. Germline TSC2 mutations were found in all patients for whom genetic data were available (n = 3). We did not identify pancreatic angiomyolipomas in this series. Our results suggest that PanNETs are the most common pancreatic lesion in patients with TSC. Focal pancreatic mass lesions, solid or cystic, in patients with TSC should be considered possible PanNETs, and resection of the lesion may be clinically indicated.
我们研究了与结节性硬化症（TSC）相关的胰腺神经内分泌肿瘤（PanNETs），以确定其在 TSC 人群中的发生率；定义其临床、放射学和病理学特征；并研究其与潜在基因型的关联。回顾性分析了 219 例 TSC 患者的腹部影像学资料，评估胰腺病变的发生率、大小和结构。在马萨诸塞州总医院（MGH）的病理记录中，对所有 TSC 患者的 PanNET 诊断进行了评估。查阅了文献中与 TSC 相关的 PanNET 病例。在腹部影像学上发现 9 例 TSC 患者存在胰腺病变，6 例 MGH 病理诊断为 PanNET。文献中报道了 12 例 TSC 相关的 PanNET。在这 18 例 PanNET 病例中，三分之一为囊性，平均切除年龄为 26 岁。所有可获得遗传数据的患者（n = 3）均发现 TSC2 种系突变。在本系列中未发现胰腺血管平滑肌脂肪瘤。我们的结果表明，PanNETs 是 TSC 患者最常见的胰腺病变。TSC 患者的胰腺局灶性肿块病变，实性或囊性，应考虑为可能的 PanNETs，切除病变可能具有临床意义。
