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Abstract：
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.
摘要：
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基因突变有关。这里,我们报道了一例罕见的多器官受累和占位性病变病例.最初，该患者被认为是胰腺肿瘤转移。然而,患者被诊断为胰腺神经内分泌肿瘤，肝血管周围上皮样肿瘤，脾错构瘤,术后病理检查肾血管平滑肌脂肪瘤。我们进行了基因突变检测，以鉴定结节性硬化症2基因存在杂合变异。结节性硬化症通常表现为广泛的肿瘤，但在病例中突出显示的胰腺神经内分泌肿瘤和肝脏血管周围肿瘤并不常见。因此，我们分析了TSC基因突变与相关肿瘤的关系。并对目前结节性硬化症的分子机制和治疗方法进行了综述。
