背景:甲状腺乳头状癌(PTC)是分化型TC的最常见类型,而髓质TC(MTC)占4%。同时存在PTC和MTC是罕见的。
方法:这是一个回顾性研究,单中心观察研究进行了16年(2001-2017年)。数据是从比萨大学医院内分泌科-医学部接受全甲状腺切除术的患者的临床记录中收集的,意大利。
结果:超过690例分析病例,650(94.2%)是排他性DTC,19个独占MTC(2.75%)和5个PTC/MTC(0.7%)。未发现髓质/滤泡性TC混合或遗传性MTC(家族性MTC/多发性内分泌瘤2型)病例。在五个PTC/MTC案例中,有男性患病率(M:F=3:2),所有的PTC组件都处于阶段I,而40%的MTC处于I和III期,20%的MTC处于II期;微PTC(mPTC)普遍存在(80%),微MTC也很常见(40%);60%的MTC患者康复,而40%的患者发展为转移性疾病。搜索RET基因的种系突变导致在所有情况下都是阴性的。
结论:在过去的30年中,PTC/MTC的发病率一直在增加。PTC/MTC形式的病因仍然未知,虽然这种同时发生可能只是巧合,我们不能排除共同遗传起源的假设。
Papillary thyroid carcinoma (PTC) is the most common type of differentiated TC, while medullary TC (MTC) accounts for 4%. The concomitant presence of PTC and MTC is rare.
This is a retrospective, single-center observational study conducted over 16 years (2001-2017). The data were collected from the clinical records of patients who underwent total thyroidectomy at the Endocrine Unit-Department of Medicine of the University Hospital of Pisa, Italy.
Over 690 analyzed cases, 650 (94.2%) were exclusive DTC, 19 exclusive MTC (2.75%) and 5 PTC/MTC (0.7%). No case of mixed medullary/follicular TC or hereditary MTC (familial MTC/multiple endocrine neoplasia type 2) was found. Among the five PTC/MTC cases, there was a male prevalence (M:F = 3:2), and all PTC components were at stage I, whereas 40% of MTC were at stage I and III and 20% of MTC were at stage II; microPTC (mPTC) was prevalent (80%) and also microMTCs were frequent (40%); 60% of MTC patients recovered, while 40% of patients developed metastatic disease. The search for germline mutations of the RET gene resulted in being negative in all cases.
The incidence of PTC/MTC has been increasing over the past 30 years. The etiology of PTC/MTC forms is still unknown, and although this simultaneous occurrence could be only a coincidence, we cannot exclude the hypothesis of a shared genetic origin.