Zhang Xinhe, Zhong Xinping, Lin Xuyong, Li Xuedan, Tian Haoyu, Chang Bing, Wang Ying, Tong Jing, Wang Ningning, Li Dan, Jin Xiuli, Huang Die, Wang Yanmeng, Cui Huipeng, Guan Lin, Li Yiling
Gastroenterology Department, The First Affiliated Hospital of China Medical University, Shenyang, China.
Department of Hepatobiliary Surgery, The First Affiliated Hospital of China Medical University, Shenyang, China.
Front Oncol. 2022 Jul 19;12:916016. doi: 10.3389/fonc.2022.916016. eCollection 2022.
Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-occupying lesions. Initially, the patient was thought to have metastasis of a pancreatic tumor. However, the patient was diagnosed as pancreatic neuroendocrine tumors, liver perivascular epithelioid tumors, splenic hamartoma, and renal angiomyolipoma by pathological examination after surgery. We performed genetic mutation detection to identify that tuberous sclerosis complex 2 gene presented with a heterozygous variant. Tuberous sclerosis often presents with widespread tumors, but it is less common to present with pancreatic neuroendocrine tumors and liver perivascular tumors as highlighted in the case. So we analyzed the relationship between TSC gene mutations and related tumors. And we also reviewed the current molecular mechanisms and treatments for tuberous sclerosis complex.
胰腺神经内分泌肿瘤（PNEN）是起源于神经内分泌细胞的肿瘤。只有约1%的患者与结节性硬化症复合基因的突变有关。在此，我们报告了一例罕见的累及多个器官并有占位性病变的病例。最初，该患者被认为患有胰腺肿瘤转移。然而，术后病理检查诊断该患者为胰腺神经内分泌肿瘤、肝脏血管周上皮样细胞瘤、脾脏错构瘤和肾血管平滑肌脂肪瘤。我们进行了基因突变检测，以确定结节性硬化症复合基因2存在杂合变异。结节性硬化症常表现为广泛的肿瘤，但如本病例所强调的，以胰腺神经内分泌肿瘤和肝脏血管周肿瘤表现较为少见。因此，我们分析了TSC基因突变与相关肿瘤之间的关系。我们还回顾了结节性硬化症的当前分子机制和治疗方法。
