Journal
FRONTIERS IN ENDOCRINOLOGY
Volume 12, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fendo.2021.622693
Keywords
carcinoid; familial; small bowel neuroendocrine tumors; molecular characteristics of the tumor; clinical management
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Small bowel neuroendocrine tumors are rare, with challenges in early detection, but genetic predisposition plays a significant role in familial cases. Screening for familial small bowel neuroendocrine tumors can lead to earlier diagnosis and improved patient outcomes.
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.
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