Somatic DICER1 Mutations in a Pubertal Girl with Cervical Embryonal Rhabdomyosarcoma and Papillary Thyroid Adenoma

BackgroundDICER1 syndrome is an inherited tumor predisposition syndrome. A germline mutation in DICER1 increases the risk for a spectrum of rare tumors. We describe a case of somatic DICER1 mutation in a pubertal girl, who is affected by different tumors of the DICER1 syndrome, including embryonal rhabdomyosarcoma (ERMS) of the cervix and thyroid adenoma.CaseA 16-year-old girl with history of papillary thyroid adenoma presented with abnormal vaginal bleeding and an exophytic cervical mass on examination. Histopathologic examination confirmed cervical ERMS. By using Sanger sequencing of the tumor, we identified 1 DICER1 mutation (c.3937delG).Summary and ConclusionThis report suggests that a patient with these 2 unrelated tumors (ERMS and papillary thyroid adenoma) should be promptly tested for DICER1 gene mutations.     

琥珀酰胆碱与罗库溴铵用于麻醉诱导对甲状腺手术患者术中喉返神经监测的影响[论著]

目的　比较常规剂量琥珀酰胆碱与小剂量罗库溴铵用于麻醉诱导对甲状腺手术患者术中喉返神经监测的影响。方法　选取2019年4月至2019年7月本院120例同一外科医师团队甲状腺手术喉返神经监测患者，随机分为A组：麻醉诱导肌松药物为琥珀胆碱1.5 mg/kg；B组：麻醉诱导肌松药物为罗库溴铵0.3 mg/kg。麻醉医师待肌松监测显示到最大抑制后，通过气管插管条件评分评估两组患者气管插管条件。记录各组插管时间、等待时间；迷走神经和喉返神经电信号基础值；以及术中血压波动、术后咽痛、声音嘶哑、低氧血症、苏醒延迟等并发症。外科医师通过神经肌电监测仪进行喉返神经刺激评估两组患者喉返神经监测情况。结果　A组患者气管插管条件优于B组，A组插管时间、肌松监测时间小于B组，两组手术监测时间差异无统计学意义。A组首次神经监测信号值大于B组，A组首次监测例数多于B组，两组患者术中无体动，血压下降差异无统计学意义。麻醉术后并发症，A组咽痛少于B组，A组有少量患者发生肌痛，差异无统计学意义。结论　1.5 mg/kg琥珀酰胆碱用于甲状腺手术患者的麻醉诱导，可以提供较好的插管条件，不影响外科医师术中行喉返神经监测，同时减少患者术后咽痛的发生。     

Survivin as a diagnostic and therapeutic marker for thyroid cancer

Thyroid cancer (TC) is known as the most prevalent form of endocrine malignancy. With regard to high heterogeneity of the nodules, problem of discriminating between benign and malignant ones in terms of pathological characteristics, as well as lack of appropriate molecular markers; significant efforts are being made to identify molecular markers that able to detect tumorous lesions. Survivin, the newest member of the family of proteins inhibiting cell apoptosis, has been recently considered as a novel molecule marker for cancer. Studies on TC have also demonstrated distinctive expression of survivin and its splice variants in cancer cells compared to normal ones. Therefore, detection of survivin expression and its new splice variants can be utilized to identify tumor nodules and distinguish them from non-cancerous ones, along with other routine laboratory methods.     

Expression of HBME-1 and CD56 in follicular variant of papillary carcinoma in children: An immunohistochemical study and their diagnostic utility

Papillary thyroid carcinoma (PTC) is the most common differentiated thyroid cancer in children; and the follicular variant is the second most common variant after the classic subtype. The histological appearance of follicular variant of papillary thyroid cancer (FVPTC), can be mimicked by benign follicular nodules. Pediatric pathologists encountering such lesions with FVPTC-like appearance may err on diagnosing the benign lesions as malignant. In adult patients, several immunohistochemical markers have emerged recently as a useful adjunct to distinguish differentiated thyroid carcinomas from benign follicular lesions. We undertook an inter-institutional retrospective study to establish the diagnostic utility of immunohistochemical staining for HBME-1, Galectin-3 and CD56 in differentiating FVPTC from its benign mimics, follicular adenoma and adenomatoid nodules, in children. Our specific aim of the project was to define the sensitivity and specificity of the three antibodies in FVPTC. Based on institutional diagnoses, a total of 66 cases were obtained: 32 FVPTC and 34 benign follicular nodules that comprised of 23 follicular adenoma and 11 adenomatoid nodules. Five investigators, who were blinded to the original diagnoses, independently reviewed the slides following pre-determined criteria and semi-quantitatively scoring the immunohistochemical staining. The immunohistochemical staining revealed that a combination of positive HBME-1 and negative CD56 result gave 100% specificity and positive predictive value in distinguishing FVPTC from benign follicular nodules. However, the antibody combination suffered from a lower sensitivity (50%). We used a cutoff of 25% positivity of tumor cells in determining positivity of tumor cells to an antibody. In conclusion, our study found a very high specificity and strong positive predictive value for the combination of HBME-1 and CD56 immunohistochemical stains in distinguishing FVPTC from benign follicular lesions.     

甲状腺乳头状癌突变等位基因肿瘤异质性的临床及其与预后相关性研究

目的探讨突变等位基因肿瘤异质性(MATH)在甲状腺乳头状癌（PTC）中的临床意义。 方法从癌症基因图谱公共数据集下载并预处理PTC肿瘤测序数据及临床资料数据，分析MATH与PTC临床病理特征的相关性，使用Kaplan-Meier法进行生存分析，验证MATH对PTC患者的预后价值。 结果PTC患者中MATH值为2.57~93.72，平均29.45±16.19；将≥29.45者纳入高MATH组，<29.45者纳入低MATH组。高MATH组与低MATH组的患者年龄、性别、临床分期、BRAF基因型差异无统计学意义（P>0.05）。MATH不是PTC患者总体生存期（OS）的显著预测因素（P=0.4595）；在BRAF突变型PTC患者中，高MATH者的OS低于低MATH者（P=0.0252），而在BRAF野生型PTC患者中，高MATH者的OS高于低MATH者（P=0.0495）。 结论MATH可在BRAF突变型和野生型亚组中可预测PTC患者的预后及指导临床治疗。     

产后抑郁症与甲状腺功能关系的研究进展

产后抑郁症(Postpartum depression,PPD)发病率高,是生育常见的并发症之一,对产妇、婴儿、家庭和社会均可造成不可估量的损害。多种因素可引起PPD的发生,目前多项研究表明下丘脑-垂体-甲状腺(Hypothalamuspituitary-thyroid,HPT)轴功能紊乱参与PPD的发生,但两者间的具体联系尚未明确。本文从妊娠期甲状腺功能变化、促甲状腺激素(Thyroid stimulating hormone,TSH)、游离三碘甲状原氨酸(Free triiodothyronine,FT3)、游离甲状腺素(Free thyroxine,FT4)水平变化对PPD的影响、甲状腺自身抗体与PPD的关系以及抗PPD治疗对甲状腺功能影响等方面对PPD与甲状腺功能关系研究进展做一综述,以期为深入了解和治疗PPD带来新的启示。     

孕20周内母体甲状腺功能与婴幼儿体格及神经精神发育剂量反应关系的前瞻性队列研究

目的 通过前瞻性队列研究，评价孕20周内母体甲状腺功能相关激素指标水平与新生儿出生体格和婴幼儿期神经精神发育水平之间的剂量反应关系。方法 在安徽省马鞍山市建立945名孕妇队列，留取队列孕妇血清标本，使用电化学发光免疫法检测孕妇血清甲状腺功能相关激素水平；收集孕妇的一般社会人口统计学资料，测量新生儿出生体格和婴幼儿神经精神的发育情况等。结果 孕期母体血清促甲状腺激素（TSH）水平处于不同百分段的孕妇所分娩的活产儿出生时身长和头围差异均有统计学意义（P<0.05）。孕期母体TSH水平<P₅和≥ P₉₅的新生儿出生身长和头围比母体TSH水平位于P₂₅~P₇₅的新生儿偏低，差异均有统计学意义（P<0.05）。新生儿出生头围与母体TSH-Z分呈倒"U"形分布模式（Y=33.940+0.003X-0.109X²，F=4.685，P=0.009）。孕期母体TSH水平处于不同百分段的孕妇所分娩后代在出生后18~30个月时的精神发展指数（MDI）差异有统计学意义（P<0.05），孕期母体TSH水平≥ P₉₀的婴儿MDI评价水平比母体TSH水平P₂₅~P₇₅的婴儿低6.39分（95% CI：2.29~10.49；P=0.002）。婴幼儿18~30个月时MDI与母体TSH-Z分亦呈倒"U"形分布模式（Y=103.249-1.524X-0.939X²，F=6.616，P=0.001）。结论 孕妇血清TSH水平与新生儿出生时身长、头围，以及婴幼儿18~30个月时MDI关系密切；孕期母体TSH-Z分与新生儿头围和婴幼儿18~30个月时MDI均呈现倒"U"形的分布模式。     

超声新技术在甲状腺结节中的一站式应用

近年来随着超声新技术的迅猛发展所带来的技术革新弥补了常规超声在鉴别诊断甲状腺结节方面的不足,超微血管成像技术以病灶内的低速微小血管检出提高了甲状腺结节良恶性的诊断率;超声造影可显示常规超声无法显示的微小血管,且可用于甲状腺结节的疗效评估;剪切波弹性成像可实时定性定量显示结节的软硬度信息。微波消融术治疗甲状腺结节的疗效好、术后并发症少、不影响患者美观度等优势,具有广阔的应用前景。这些新技术的应用,可使甲状腺结节从诊断到治疗上实现超声全程化诊治和管理。