CAJ | 학술논문

目的：探讨多发性内分泌腺瘤病2B型的临床特点及诊断方法。方法回顾性分析1980年7月至2012年1月收治的4例多发性内分泌腺瘤病2B型患者的临床资料，男3例，确诊年龄分别为14岁、24岁及21岁；女1例，确诊年龄23岁。2例以查体发现甲状腺肿物首诊，1例以查体发现肾上腺肿瘤首诊，1例以发作性高血压首诊。4例均伴有多发黏膜神经瘤，3例合并甲状腺髓样癌及嗜铬细胞瘤，1例为嗜铬细胞瘤伴有马方综合征。2例伴马方综合征体型。嗜铬细胞瘤中2例伴有发作性高血压，最高血压＞200 mmHg（1 mmHg＝0．133 kPa），2例为甲状腺髓样癌术后随诊时检查发现；3例为双侧多发。甲状腺肿瘤通过B超检查诊断，嗜铬细胞瘤经B超、CT及24 h尿儿茶酚胺检查确诊。4例均分期行肾上腺和甲状腺切除术。对2例RET原癌基因第10～16外显子及相邻内含子进行测序，明确RET基因突变状态。结果3例甲状腺髓样癌患者中，2例行甲状腺全切＋淋巴结清扫术，1例行左侧甲状腺大部切除术。4例嗜铬细胞瘤患者中，3例行肾上腺肿瘤切除术，1例未手术。术后随访2～15年，1例未见肿瘤复发及转移，2例全身多发转移。2例基因检测提示RET原癌基因存在激活突变，均为16外显子918位蛋氨酸被苏氨酸取代（ ATG-ACG）。结论多发性内分泌腺瘤病2B型的诊断主要依赖相应的内分泌检查及B超、CT检查，手术是主要的治疗手段，当嗜铬细胞瘤与其他肿瘤同时存在时，宜首先切除嗜铬细胞瘤。
목적：탐토다발성내분비선류병2B형적림상특점급진단방법。방법회고성분석1980년7월지2012년1월수치적4례다발성내분비선류병2B형환자적림상자료，남3례，학진년령분별위14세、24세급21세；녀1례，학진년령23세。2례이사체발현갑상선종물수진，1례이사체발현신상선종류수진，1례이발작성고혈압수진。4례균반유다발점막신경류，3례합병갑상선수양암급기락세포류，1례위기락세포류반유마방종합정。2례반마방종합정체형。기락세포류중2례반유발작성고혈압，최고혈압＞200 mmHg（1 mmHg＝0．133 kPa），2례위갑상선수양암술후수진시검사발현；3례위쌍측다발。갑상선종류통과B초검사진단，기락세포류경B초、CT급24 h뇨인다분알검사학진。4례균분기행신상선화갑상선절제술。대2례RET원암기인제10～16외현자급상린내함자진행측서，명학RET기인돌변상태。결과3례갑상선수양암환자중，2례행갑상선전절＋림파결청소술，1례행좌측갑상선대부절제술。4례기락세포류환자중，3례행신상선종류절제술，1례미수술。술후수방2～15년，1례미견종류복발급전이，2례전신다발전이。2례기인검측제시RET원암기인존재격활돌변，균위16외현자918위단안산피소안산취대（ ATG-ACG）。결론다발성내분비선류병2B형적진단주요의뢰상응적내분비검사급B초、CT검사，수술시주요적치료수단，당기락세포류여기타종류동시존재시，의수선절제기락세포류。
Objective To investigate the clinical characteristics and diagnostic methods of multiple endocrine neoplasia ( MEN) 2B. Methods The clinical data collected from 4 cases with multiple endo-crine neoplasia type 2B, who had been diagnosed and treated from July .1980 to Jan.2012, were retrospec-tively analyzed.Of the 4 patients, 3 males were diagnosed at the age of 14, 24, 21, respectively, and 1 fe-male was diagnosed at age of 23.Two cases had the first diagnosis of thyroid mass during the physical exami-nation, and the adrenal tumors and hypertension were first diagnosed in other two cases , respectively.All four cases had multiple mucosal neuromata .Of whom, three cases had medullary thyroid carcinoma and pheochromocytoma , two cases had Marfan syndrome figure , and one case had pheochromocytoma and Marfan syndrome.Two cases were accompanied by paroxysmal hypertension , and the highest systolic blood pressure was over 200 mmHg (1 mmHg=0.133 KPa).Two cases of pheochromocytoma were found during follow up . Three cases had bilateral adrenal tumors .The thyroid mass was diagnosed by ultrasonography , and the pheo-chromocytoma was confirmed by ultrasonography , CT and 24-hour urine catecholamine test .Adrenalectomy and thyroidectomy were carried out during the treatment process .To clarify the RET mutation status , exons and adjacent introns from 10th to 16th of RET proto-oncogene were sequenced in two patients . Results Gene analysis of two cases confirmed the activating mutation at the sites of 918 in exon 16 of RET proto-on-cogene in which methionine was replaced by threonine ( ATG-ACG) .Among the 3 cases with medullary thy-roid carcinoma , two patients were treated by total thyroidectomy and neck lymphadenectomy , one was opera-ted by subtotal thyroidectomy .For the treatment of pheochromocytoma , adrenal tumor resection was carried out in 3 cases, but not in the other one .Patients were followed up for 2 to 15 years postoperatively , 1 case without tumor recurrence and metastasis , 2 cases with multiple metastases . Conclusions The diagnosis of multiple endocrine neoplasia type 2B mainly depends on endocrine tests , ultrasonography and CT .Surgery is the primary treatment .When pheochromocytoma coexists with other tumors , pheochromocytoma should be re-moved first .