Division of Surgical Oncology, Department of Surgery, Oregon Health & Science University, Portland, OR, United States.
Front Endocrinol (Lausanne). 2021 Feb 26;12:622693. doi: 10.3389/fendo.2021.622693. eCollection 2021.
Small bowel neuroendocrine tumors are rare tumors with an increasing incidence over the last several decades. Early detection remains challenging because patients commonly develop symptoms late in the disease course, often after the tumors have metastasized. Although these tumors were thought to arise from sporadic genetic mutations, large epidemiological studies strongly support genetic predisposition and increased risk of disease in affected families. Recent studies of familial small bowel neuroendocrine tumors have identified several novel genetic mutations. Screening for familial small bowel neuroendocrine tumors can lead to earlier diagnosis and improved patient outcomes. This review aims to summarize the current knowledge of molecular changes seen in familial small bowel neuroendocrine tumors, identify clinical features specific to familial disease, and provide strategies for screening and treatment.
小肠神经内分泌肿瘤是一种罕见的肿瘤，在过去几十年中的发病率呈上升趋势。由于患者通常在疾病晚期才出现症状，而且常常在肿瘤转移后才出现症状，因此早期发现仍然具有挑战性。尽管这些肿瘤被认为是由散发性基因突变引起的，但大型流行病学研究强烈支持遗传易感性和患病家族的疾病风险增加。最近对家族性小肠神经内分泌肿瘤的研究发现了几种新的基因突变。对家族性小肠神经内分泌肿瘤进行筛查可以导致更早的诊断和改善患者的预后。本综述旨在总结家族性小肠神经内分泌肿瘤中所见的分子变化的现有知识，确定家族性疾病的特定临床特征，并提供筛查和治疗策略。
