甲状腺髓样癌研究进展

甲状腺髓样癌来源于分泌降钙素的甲状腺滤泡旁细胞（又称C细胞），且多因RET基因突变引发，其发病、诊断和治疗等都独具特点，本文重点综述了近年来甲状腺髓样癌基础研究和临床治疗方面的进展。     

甲状腺髓样癌术后淋巴转移致异位ACTH综合征：一例报告并文献复习

目的：总结一例甲状腺髓样癌术后淋巴转移所致异位ACTH综合征患者的诊治过程,结合文献对本病的发病机制、临床表现及分型、诊断和治疗加以探讨。方法：对南京市鼓楼医院内分泌科2009年收治的一例甲状腺髓样癌术后淋巴转移所致异位ACTH综合征的一例病例进行总结分析,复习相关文献,阐明本病的基本特征及研究进展。结果：甲状腺髓样癌术后淋巴转移所致异位ACTH综合征临床十分少见。充分认识其临床表现、理化检查及影像学定位,给予及早诊断和综合治疗十分重要。结论：早期发现、早期诊断、早期治疗是控制ESA的关键。     

甲状腺髓样癌术后淋巴转移致异位ACTH综合征:一例报告并文献复习

目的:总结一例甲状腺髓样癌术后淋巴转移所致异位ACTH综合征患者的诊治过程,结合文献对本病的发病机制、临床表现及分型、诊断和治疗加以探讨。方法:对南京市鼓楼医院内分泌科2009年收治的一例甲状腺髓样癌术后淋巴转移所致异位ACTH综合征的一例病例进行总结分析,复习相关文献,阐明本病的基本特征及研究进展。结果:甲状腺髓样癌术后淋巴转移所致异位ACTH综合征临床十分少见。充分认识其临床表现、理化检查及影像学定位,给予及早诊断和综合治疗十分重要。结论:早期发现、早期诊断、早期治疗是控制ESA的关键。     

甲状腺髓样癌与RET基因

甲状腺髓样癌(MTC)源于甲状腺滤泡旁细胞,预后较分化型甲状腺癌为差,早期手术是最为有效的治疗方法.近年发现RET基因突变是MTC的主要分子病因学基础,对RET基因突变的研究成果已经用于临床早期诊断、指导预防性外科干预以及生物靶向治疗等方面.     

甲状腺C细胞增生

甲状腺Ｃ细胞（滤泡旁细胞）增生（ｃａｌｃｉｔｏｎｉｎｃｅｌｈｙｐｅｒｐｌａｓｉａ）是指多灶性的甲状腺内Ｃ细胞增生团块。可看作多发性髓样癌的癌前病变［１］。正确认识Ｃ细胞增生对甲状腺髓样癌的诊断、鉴别诊断及预防具有重要意义。Ｃ细胞增生最初被报道于家族性...     

《CSCO甲状腺髓样癌诊疗指南2022》指南解读:术前诊断

甲状腺髓样癌起源于甲状腺滤泡旁C细胞,属于神经内分泌肿瘤,其恶性程度介于分化型甲状腺癌和未分化癌之间。术前诊断包括实验室检查、影像学检查及病理检测,需要多学科协作。本文对《CSCO甲状腺髓样癌诊疗指南2022》中的术前诊断部分进行解读。     

甲状腺髓样癌降钙素及其基因相关肽检测的临床意义——附88例报告(英文)

目的研究甲状腺髓样癌患者降钙素及其基因相关肽的变化规律,指导临床治疗方案的选择和患者预后的判断。方法回顾性研究包括对58例甲状腺髓样癌病例血清中降钙素的分析及应用免疫组织化学方法观察相应标本中降钙素及其基因相关肽的表达情况;对新入组30例病例进行放射免疫学测定。结果 (1)术后1个月降钙素水平正常与升高的患者之间,肿瘤复发存在显著性差异(P<0.01)。(2)约98%的患者肿瘤标本降钙素染色呈阳性,而降钙素基因相关肽的阳性率为87.8%。(3)部分术前降钙素水平正常的患者降钙素基因相关肽水平升高。(4)术后1周左右降钙素下降至一稳定水平。结论降钙素可以作为指导甲状腺髓样癌诊断和治疗的重要指标,检测降钙素基因相关肽有助于部分降钙素阴性的甲状腺髓样癌患者术前诊断。     

甲状腺滤泡癌、髓样癌超声表现的初步探讨

 目的 探讨甲状腺滤泡癌、髓样癌的超声声像图特点。方法 与病理结果对照，回顾性分析了18例甲状腺滤泡癌和19例髓样癌的二维及彩色多普勒超声特征。结果 甲状腺滤泡癌女性多见，其中16例癌结节呈不均匀回声，10例伴有液化或囊性成分，11例伴有钙化，部分占位可见包膜。甲状腺髓样癌男女无发病率明显差异，13例呈不规则实性低回声结节，并伴有散在砂粒状钙化点，12例边界欠清楚，髓样癌结节均无明显包膜及液化，结节内部血供丰富。结论 甲状腺滤泡癌、髓样癌各有一定的声像图特点, 对其特征的分析有助于甲状腺癌的分型诊断。     

甲状腺髓样癌的神经内分泌激素免疫组化研究

目的 :探讨神经内分泌激素在甲状腺髓样癌表达的意义及在病理诊断和鉴别诊断中的应用价值。方法 :选择甲状腺髓样癌 10例 ,滤泡性腺癌、乳头状腺癌和未分化癌各 3例 ,行免疫组化LSAB法检测。结果 :10例髓样癌降钙素均阳性 ,嗜铬粒素A 8例 ,NSE 7例 ,Syn 4例 ,Somat 3例阳性 ;其他类型癌均呈阴性。结论 :降钙素是甲状腺髓样癌特异的标记物 ,其余内分泌激素的检出也有助于甲状腺髓样癌的诊断和鉴别诊断。     

Ki67在甲状腺髓样癌中的表达及意义

目的:研究增殖细胞相关抗原（Ki67）在甲状腺髓样癌中的表达及临床意义。方法:采用免疫组化SP法检测42例甲状腺髓样癌组织、18例癌旁组织中Ki67的表达,并分析Ki67增殖指数与临床病理学指标间的关系。结果:42例甲状腺髓样癌组织中Ki67的表达率为85.71%（36/42）,明显高于其在癌旁组织中的表达率0%（0/18）（P<0.05）。Ki67增殖指数与患者肿瘤大小、临床分期、淋巴结转移有关（P<0.05）,而与患者年龄、性别无关（P>0.05）,Ki67的表达水平与患者的生存时间无显著相关性（P=0.2283）。结论:Ki67高表达与甲状腺髓样癌的发生、发展及浸润转移有关,可作为判断甲状腺髓样癌生物学行为的重要指标,但Ki67的表达水平并不能作为判断患者预后的指标。     

甲状腺髓样癌的超声成像特征分析及诊断价值评价

目的:分析甲状腺髓样癌（medullary thyroid carcinoma,MTC）的超声特征,研究并探讨超声成像对甲状腺髓样癌的诊断价值。方法:选取来我院就诊的49例甲状腺髓样癌（MTC）患者的68枚结节,与同期随机选取的60例甲状腺乳头状癌（papillary thyroid carcinoma,PTC）的82枚结节做对比,分析两者的二维超声特点、剪切波弹性成像(shear wave elastography,SWE)的各参数及颈部淋巴结转移情况,病灶均有手术及病理评估。结果:MTC声像图表现为低回声（73.5%）,边界清楚（50.0%）,纵横比＜1（89.7%）,结节内伴钙化（60.2%）,结节内存在血流（58.8%）,合并颈部淋巴结转移（55.1%）;与PTC相比,MTC多表现为结节较大,边界清楚,纵横比＜1,结节内存在血流,结节内钙化多为粗大钙化,易发生淋巴结转移（P<0.05）。MTC的SWE各参数为Emax(48.4±19.1)kPa,Emean(32.3±14.5）kPa。淋巴结超声检查,MTC可疑淋巴结22例,诊断准确率为81.5%。结论:MTC既具有恶性结节的一般特点,又有相对特异的超声表现,超声成像对MTC的早期诊断及手术治疗有较大的参考依据。     

A case of multiple endocrine neoplasia type 2B

A sporadic case of multiple endocrine neoplasia type 2B in a twenty-six year old man who manifested medullary thyroid carcinoma, multiple mucosal neuromas of the tongue and a marfanoid habitus is reported. At the time of diagnosis, he also had multiple liver and lung metastases. Genetic analysis of his lymphocytes revealed a point mutation in exon 16 of the RET proto-oncogene. Since multiple endocrine neoplasia type 2B has a relatively poor prognosis because of the occasional aggressive behavior of medullary thyroid carcinoma, the necessity of the genetic diagnosis of multiple endocrine neoplasia in the early stage is suggested.      

Diagnostik des Schilddrüsenkarzinoms

Most thyroid cancers are well differentiated, grow slowly, and have a good prognosis. They account for less than 1% of all malignancies with an incidence of 3 per 100,000. Clinical presentation of thyroid cancer is a late event induced by local infiltration and the development of cervical lymph nodes. The problem of early diagnosis of thyroid cancer is the high prevalence rate of thyroid nodules in the German population (30%) and the low malignancy rate (1–2%). Diligent work-up is necessary including evaluation of risk factors, routine ultrasonography of the thyroid, thyroid scintigraphy and in all hypoechogenic, cold nodules >1 cm diameter fine-needle aspiration as well as fine-needle aspiration in all rapidly growing nodules. Calcitonin determination in all thyroid nodules and if slightly elevated a pentagastrin stimulation test is recommended for early detection of medullary thyroid carcinoma. A familial variant occurs in 25% of medullary thyroid carcinomas which can be confirmed by RET mutation analysis. Further family studies identify asymptomatic gene carriers who can be cured by early prophylactic thyroidectomy, which improves the overall mortality rate and prognosis.     

Anaplastic thyroid carcinoma. A clinical, histologic, and immunohistochemical study

Twenty-six cases of anaplastic thyroid tumor were investigated and reclassified using immunoperoxidase techniques. Sections of the neoplasms were stained immunohistologically for the following thyroid associated antigens: (1) thyroglobulin, which shows a positive reaction with follicular cells of the thyroid; (2) calcitonin, which is positive in medullary carcinoma of the thyroid; and (3) leucocyte common antigen (LC), which identifies lymphomata and Factor VIII-related antigen for hemangioendothelioma. Using these methods, five cases were reclassified. Three cases were identified as lymphomata, one case was reclassified as medullary carcinoma of the thyroid, and one case was identified as hemangioendothelioma. Eleven cases were confirmed to be anaplastic carcinoma of the thyroid and ten cases were negative for all the antigens tested. There was a significant difference in the survival of the groups of patients mentioned above. Prognostic data support the suggestion that immunohistochemical methods should be used for the precise classification of anaplastic carcinoma. In this way, tumors such as malignant lymphoma and medullary carcinoma, which resemble anaplastic carcinoma histologically but have a better prognosis, can be identified. This is important for planning surgical procedures and choosing chemotherapy and/or radiotherapy.     

Prophylactic thyroidectomy in MEN 2A syndrome

Genetic testing is the appropriate procedure in MEN 2A syndrome for the early diagnosis of medullary carcinoma even at a preclinical stage. Prophylactic total thyroidectomy represents the standard preventive and therapeutic surgical approach in the treatment of medullary thyroid carcinoma in MEN 2A syndrome. Our experience has confirmed the presence of CCH and medullary thyroid carcinoma even in clinically negative patients, in agreement with reports in the literature.     

甲状腺髓样癌的放射治疗新进展

甲状腺髓样癌（MTC）是一种源自甲状腺滤泡旁C细胞的神经内分泌肿瘤。 甲状腺髓样癌的初始治疗通常是手术。临床分期较晚的患者,尽管进行了积极的手术治疗,但局部复发风险仍很高。随着辐射技术的改进,足够的放疗剂量可以有效地照射到高危区域,同时最小化周围关键组织结构的受照剂量。因此放射治疗应该是局部晚期甲状腺髓样癌的治疗选择,以提高局部区域控制。     

Thyroid carcinoma

PURPOSE OF REVIEW: Diagnostic methods and treatment options for differentiated and medullary thyroid carcinoma are continuously influenced by new trends and techniques. Our review therefore displays the most recent clinical practices for diagnosis and operative treatment of differentiated and medullary thyroid carcinoma. RECENT FINDINGS: Among the new diagnostic methods, high-resolution ultrasonography plays an important role for both the evaluation of thyroid nodules and the detection of enlarged suspicious cervical lymph nodes. The results of ultrasound will definitely influence operative decisions. A second step to diagnose medullary thyroid carcinoma is calcitonin measurement before surgery, which is sensitive and specific enough to detect medullary thyroid carcinoma in patients with thyroid nodules. Surgical treatment for differentiated or medullary thyroid carcinoma mostly consists of total or near-total thyroidectomy. An additional central or lateral modified-radical neck dissection might help to reduce local recurrence, especially in medullary carcinoma, but still does not influence significantly the survival rates. Monitoring of the recurrent laryngeal nerve during surgery is used increasingly. According to the newest literature, however, compared with visual identification of the laryngeal nerve, it cannot be considered as superior. SUMMARY: Diagnosis and treatment of thyroid carcinoma are still subjected to changes and the different options of surgical treatment in particular will be continuously discussed in the future.     

EB病毒DNA检测在鼻咽癌中的应用及研究进展

鼻咽癌是一种发生于鼻咽部黏膜上皮的恶性肿瘤,以我国南方及东南亚地区最为常见。研究证实EB病毒（Epstein-Barr virus,EBV)感染与鼻咽癌的发生发展密切相关,并且EB病毒DNA（Epstein-Barr virus DNA,EBV-DNA）定量水平在鼻咽癌疾病进程、治疗及转归的过程中均会发生相应的规律性改变。因此,EBV-DNA检测在鼻咽癌筛查、早期诊断、个体化治疗及预后评估等方面具有较大的价值。本文就EBV-DNA检测在鼻咽癌中的应用价值及研究进展作简要综述。     

Diagnostic approach, genetic screening and prognostic factors of medullary thyroid carcinoma

Medullary thyroid carcinoma is the least frequent thyroid neoplasm; it originates in thyroid parafollicular cells (calcitonin secreting C cells). In 80% of cases it is sporadic, in the remaining 20% it is familial, associated or not to other endocrinopathies as pheochromocytoma and hyperparathyroidism (MEN 2A, MEN 2B, and isolated familial medullary thyroid carcinoma). Preclinical diagnosis in relatives of affected subjects (preferably at pediatric age) is essential for successful therapy and is performed with genetic and biochemical screening tests. The genetic screening is based on DNA analysis (RET proto-oncogene mutations) of the patient, and if positive of all first degree relatives, to separate sporadic (somatic mutations) from familial (germline mutations) forms. The biochemical screening is based on calcitonin determination and its increase after pentagastrin stimulation, (a peculiar characteristic of medullary thyroid carcinoma, the first biochemical disorder in a subject at risk) and is mainly used in genetically silent familial medullary thyroid carcinoma. The principal negative prognostic factors of medullar thyroid carcinoma and the debate concerning the use of calcitonin determination in the diagnosis of the "cold" thyroid nodule have been analyzed.     

PLEKHS1蛋白在甲状腺乳头状癌组织中的表达及其临床意义

目的:检测含Pleckstrin同源结构域的S1（pleckstrin homology domain containing S1,PLEKHS1）蛋白在甲状腺乳头状癌组织中的表达,分析PLEKHS1与临床病理特征的关系,探讨其在甲状腺乳头状癌发生、发展中的作用。方法:采用蛋白质印迹法、实时定量PCR技术以及免疫组织化学SP法检测80例甲状腺乳头状癌组织及相应癌旁经病理证实的正常组织中PLEKHS1的表达情况。结果:蛋白质印迹与实时定量PCR结果显示,与癌旁正常组织相比,甲状腺乳头状癌组织中的PLEKHS1 mRNA和蛋白表达水平显著升高（P均＜0.05）;免疫组织化学染色结果显示,PLEKHS1在甲状腺乳头状癌组织中的阳性率为80.0%（64/80）,明显高于癌旁正常组织的22.5%（18/80）（P＜0.01）。PLEKHS1的阳性表达与甲状腺乳头状癌颈淋巴结转移有关,而与性别、年龄、肿瘤大小、病灶数目、肿瘤位于单或双侧腺叶和腺外侵犯无关。结论:PLEKHS1可能参与甲状腺乳头状癌的发生、进展,有望在甲状腺乳头状癌的早期诊断方面发挥作用。