Hereditary endocrine tumor syndromes are rare conditions with overlapping features. It is imperative that healthcare providers differentiate between these syndromes for proper patient care. Advances in genetic testing technologies have increased utilization of genetic counseling and testing in this field; however, few endocrine cancer genetics clinics exist. Two years ago, a genetic counselor (GC) specializing in endocrine cancer genetics was added to the multidisciplinary team of the James Neuroendocrine/Thyroid Clinic at The Ohio State University. Here, we report on this experience. In total, 358 patients were seen. The majority were referred by medical oncology (n = 204; 57%) for a personal history of disease (n = 249; 81%). The most common referral indications were pancreatic neuroendocrine tumors (n = 44; 17%), multiple primary tumors (n = 37; 14%), and pheochromocytoma/paraganglioma (n = 35; 14%). Most patients completed genetic testing after genetic counseling (n = 200; 65%). Targeted gene panel testing was the most common testing ordered (n = 98; 32%). Thirty-one patients (15.5%) had ≥ one likely pathogenic variant (LPV) or pathogenic variant (PV) identified. Approximately 37% (n = 11) did not meet genetic testing guidelines for the gene they tested positive for. The most common genes with LPV/PVs were the SDH genes (n = 8) and MEN1 (n = 7). Referral indications with the highest likelihood of LPV/PVs were paraganglioma, medullary thyroid carcinoma, and multiple primary tumors. We believe this data can provide valuable guidance to healthcare providers who see patients with endocrine neoplasia or who are seeking to establish hereditary endocrine cancer clinics.

遗传性内分泌肿瘤综合征是具有重叠特征的罕见疾病。医疗保健提供者必须区分这些综合征以进行适当的患者护理。基因检测技术的进步增加了该领域遗传咨询和检测的利用；然而，很少有内分泌癌遗传学诊所存在。两年前，俄亥俄州立大学詹姆斯神经内分泌/甲状腺诊所的多学科团队增加了一位专门研究内分泌癌遗传学的遗传咨询师 (GC)。在这里，我们报告一下这次经历。总共看到了 358 名患者。大多数是由肿瘤内科 (n = 204; 57%) 转介的个人疾病史 (n = 249; 81%)。最常见的转诊适应症是胰腺神经内分泌肿瘤（n = 44；17%）、多原发性肿瘤（n = 37；14%）和嗜铬细胞瘤/副神经节瘤（n = 35；14%）。大多数患者在遗传咨询后完成了基因检测（n = 200；65%）。靶向基因组测试是最常见的测试顺序（n = 98；32%）。31 名患者 (15.5%) 发现了≥一种可能的致病变异 (LPV) 或致病变异 (PV)。大约 37% (n = 11) 不符合他们检测呈阳性的基因的基因检测指南。LPV/PVs 最常见的基因是 大约 37% (n = 11) 不符合他们检测呈阳性的基因的基因检测指南。LPV/PVs 最常见的基因是 大约 37% (n = 11) 不符合他们检测呈阳性的基因的基因检测指南。LPV/PVs 最常见的基因是SDH基因 (n = 8) 和MEN1 (n = 7)。LPV/PV 可能性最高的转诊适应症是副神经节瘤、甲状腺髓样癌和多原发性肿瘤。我们相信这些数据可以为看诊内分泌肿瘤患者或寻求建立遗传性内分泌癌诊所的医疗保健提供者提供有价值的指导。