Miccoli P, Elisei R, Berti P, Materazzi G, Agate L, Castagna M G, Cosci B, Faviana P, Ugolini C, Pinchera A
Department of Surgery, University of Pisa, Pisa, Italy.
J Endocrinol Invest. 2004 Jun;27(6):557-61. doi: 10.1007/BF03347478.
Activating point mutations of RET gene have been demonstrated to be causative of the familial form of medullary thyroid cancer (MTC), both isolated (FMTC) and associated to other endocrine neoplasia [multiple endocrine neoplasia (MEN) 2A and 2B]. In RET gene mutation carriers, who are prone to developing MTC, prophylactic thyroidectomy is recommended to obtain their definitive cure. The simultaneous excision of the central node compartment is mandatory when the stimulation pentagastrin test for serum calcitonin is positive. Although the minimally invasive video assisted thyroidectomy (MIVAT) is nowadays currently adopted in many centers, it has never been employed for the prophylactic thyroidectomy of RET gene mutation carriers. The fear of obtaining an incomplete lymphadenectomy of the central compartment was the main reason for this reluctance. Since RET gene mutation carriers have often normal thyroid volume and, if involved, small lymph nodes, they indeed represent the best candidates to this approach especially when considering that they are usually young and concerned about the cosmetic results and the period of hospitalization. The excellent results obtained by MIVAT in the last few years induced us to propose this procedure together with a central compartment lymphadenectomy to 2 RET gene mutation carriers recently found by genetic screening. As assessed by a negative pentagastrin stimulation test performed after 6 months from the MIVAT, they were definitively cured without any surgical complication with the exception of a transient hypoparathyroidism. They showed a great satisfaction for both the cosmetic results and the very short period of hospitalization, thus supporting the idea that MIVAT can be used in association with the central node dissection for the prophylactic treatment of RET mutation gene carriers whose thyroid volume is still normal.
RET基因的激活点突变已被证明是家族性甲状腺髓样癌(MTC)的病因,包括散发性(FMTC)以及与其他内分泌肿瘤相关的类型[多发性内分泌肿瘤(MEN)2A和2B]。在易患MTC的RET基因突变携带者中,建议进行预防性甲状腺切除术以实现根治。当血清降钙素的五肽胃泌素刺激试验呈阳性时,必须同时切除中央淋巴结区。尽管如今许多中心都采用了微创视频辅助甲状腺切除术(MIVAT),但它从未用于RET基因突变携带者的预防性甲状腺切除术。担心中央区淋巴结清扫不彻底是这种不情愿的主要原因。由于RET基因突变携带者的甲状腺体积通常正常,且若有淋巴结受累也较小,他们确实是这种手术方式的最佳候选者,尤其是考虑到他们通常较年轻,且在意美容效果和住院时间。过去几年MIVAT取得的优异结果促使我们对最近通过基因筛查发现的2例RET基因突变携带者采用这种手术方式并同时进行中央区淋巴结清扫。通过MIVAT术后6个月进行的五肽胃泌素刺激试验阴性评估,他们除了出现短暂性甲状旁腺功能减退外,均获得根治且无任何手术并发症。他们对美容效果和极短的住院时间都非常满意,从而支持了MIVAT可与中央区淋巴结清扫联合用于甲状腺体积仍正常的RET突变基因携带者预防性治疗的观点。