Gastrointestinal Oncology, Intermountain Healthcare, 5171 S. Cottonwood Street, Bldg. 1. Ste. 610, Murray, UT, 84107, USA.
Curr Treat Options Oncol. 2020 Apr 30;21(6):50. doi: 10.1007/s11864-020-00749-5.
Oncologists should be able to discern the salient clinical features of the most common germline mutations that give rise to neuroendocrine tumors. Astute recognition of an index patient affected by a hereditary syndrome can lead to a "tip-of-the-iceberg" phenomenon whereby their entire kindred can then be proactively monitored and managed potentially with substantial reduction of morbidity and mortality. Through careful history-taking, as well as thoughtful assimilation of findings from the physical exam, biochemical laboratories, scans, and pathology reports, the clinician can spot phenotypic clues that distinguish these familial patterns from sporadic cases of tumorigenesis.
肿瘤学家应该能够识别出最常见的导致神经内分泌肿瘤的种系突变的显著临床特征。敏锐地识别受遗传性综合征影响的索引患者可导致“冰山一角”现象，从而可以主动监测和管理其整个家族，从而显著降低发病率和死亡率。通过仔细的病史询问，以及对体格检查、生化实验室、扫描和病理报告结果的深思熟虑的综合分析，临床医生可以发现区分这些家族模式与肿瘤发生的散发性病例的表型线索。
