Parkhurst Emily, Calonico Elise, Abboy Sridevi
Genetics Department, Southern California Kaiser Permanente, 6041 Cadillac Ave, Los Angeles, CA, 90034, USA.
J Genet Couns. 2018 Dec;27(6):1411-1416. doi: 10.1007/s10897-018-0273-1. Epub 2018 Jun 27.
Medullary thyroid carcinoma (MTC) is often due to the hereditary condition multiple endocrine neoplasia type 2 (MEN2) and it is standard of care to offer genetic testing to all diagnosed patients. This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. All patients with MTC who had not had RET gene testing, as well as patients who had positive RET gene testing, but had not yet had genetic counseling, were contacted and offered a genetics consultation. The query identified 142 patients with MTC. Fifty-six (40%) of those patients had not had the RET testing that all endocrine professional groups recommend. Forty-nine patients were eligible for the outreach, and, from this, 14 patients were scheduled for genetic counseling. Of the 94 individuals at our institution who had RET genetic testing, 25 (27%) were positive for a mutation. Of the 82 apparently sporadic cases, 13 (16%) carried a RET mutation. A family history of endocrine cancer and younger age at diagnosis significantly increased the risk carrying a RET mutation. However, approximately half of RET-positive patients did not have a significant family history of cancer and one-third were over age 50 at diagnosis. This study concludes that a significant proportion of patients with MTC are not receiving standard of care genetic testing and reinforces previous research that sporadic-appearing cases of MTC are often, in fact, hereditary.
甲状腺髓样癌（MTC）通常由遗传性疾病2型多发性内分泌腺瘤病（MEN2）引起，对所有确诊患者进行基因检测是标准治疗方案。本研究利用凯撒医疗集团的综合医疗记录系统来识别有MEN2风险的患者，评估对临床实践指南的遵循情况，并提供遗传咨询和检测。通过查询电子病历系统识别出患有MTC的患者。所有未进行RET基因检测的MTC患者，以及RET基因检测呈阳性但尚未接受遗传咨询的患者，均被联系并提供遗传学咨询。该查询共识别出142例MTC患者。其中56例（40%）患者未进行所有内分泌专业组都推荐的RET检测。49例患者符合推广条件，其中14例患者被安排进行遗传咨询。在本机构进行RET基因检测的94人中，25人（27%）突变呈阳性。在82例明显散发的病例中，13例（16%）携带RET突变。内分泌癌家族史和诊断时年龄较小显著增加了携带RET突变的风险。然而，约一半RET阳性患者没有明显的癌症家族史，三分之一患者诊断时年龄超过50岁。本研究得出结论，相当一部分MTC患者未接受标准治疗方案的基因检测，这强化了先前的研究，即看似散发的MTC病例实际上往往是遗传性的。
