遗传性甲状腺髓样癌的诊断及治疗

目的探讨遗传性甲状腺髓样癌的诊断及诊疗，为其早期诊断及正确治疗提供依据。方法总结遗传性性甲状腺髓样癌患者的临床资料，对其病因、早期诊断及治疗等方面进行探讨。结果遗传性性甲状腺髓样癌是一种由RET原癌基因的种系突变引起的常染色体显性综合征。发病通常是多病灶性和双侧性的，并且大部分（95％）都发生在年轻人；合理的手术治疗可以取得满意的疗效。结论遗传性性甲状腺髓样癌是一种遗传性疾病，早期诊断、合理的手术治疗治疗可以取得满意的疗效。患者家族成员应长期随访。     

遗传性乳腺癌-卵巢癌临床分析

目的探讨遗传性乳腺癌-卵巢癌的遗传学、诊断及诊疗,为其早期诊断及正确治疗提供依据。方法总结遗传性乳腺癌-卵巢癌患者的临床资料,对其遗传学、早期诊断及治疗等方面进行探讨。结果遗传性乳腺癌-卵巢癌起源于甲状腺滤泡上皮细胞,它单独发生或作为家族性肿瘤综合征发生。多发性病灶和同时伴发腺瘤性甲状腺肿是其特征性临床表现,并且多发生在年轻人;合理的手术治疗可以取得满意的疗效。结论遗传性乳腺癌-卵巢癌是一种遗传性疾病,早期诊断、合理的手术治疗可以取得满意的疗效。患者家族成员应长期随访。     

家族性结肠息肉病患者的诊断及治疗

目的探讨家族性结肠息肉病的临床表现规律，为其早期诊断及正确治疗提供依据。方法总结家族性结肠息肉病患者的临床资料，对其病因、癌变、早期诊断及治疗等方面进行探讨。结果家族性结肠息肉病是由于基因突变所致，突变谱的不同决定了其临床表现的多样性。家族性结肠息肉病是一种癌前期病变，具有较高的癌变率；纤维结肠镜检查是家族性结肠息肉病早期诊断的一种行之有效的方法；合理的手术治疗可以取得满意的疗效。结论家族性结肠息肉病是一种遗传性疾病，癌变率较高，早期诊断、合理治疗可以取得满意的疗效。     

22例儿童甲状腺癌临床病理分析

为探讨儿童甲状腺癌的临床病理特点、预后相关因素,回顾性总结了22例儿童甲腺状癌患者的临床病理特征及预后.结果显示,22例经病理组织学检查证实为儿童甲状腺癌的患者中,有4例为术前穿刺标本病理诊断为甲状腺癌,18例为术中病理冰冻切片诊断为甲状腺癌.22例均行手术切除治疗,其中19例为乳头状癌,2例为滤泡癌,1例髓样癌,淋巴...     

儿童甲状腺肿瘤12例分析

目的探讨儿童甲状腺肿瘤的临床特点、诊断及治疗。方法回顾性分析我院2000～2008年收治的儿童甲状腺肿瘤12例。结果甲状腺腺瘤8例,甲状腺癌3例,甲状腺囊肿1例。均行手术术后予以甲状腺素片治疗。随访至今无复发。结论儿童甲状腺肿瘤预后较好,选择合理手术方式及术后辅助治疗,可取得满意疗效。     

髓芯减压植骨结合骼金骨笼置入治疗早期非创伤性股骨头坏死的短期疗效观察

目的探讨髓芯减压植骨结合骼金骨笼置入治疗早期非创伤性股骨头坏死的手术方法及短期疗效。方法因非创伤性股骨头坏死的患者60例,将其随机分为研究组和对照组各30例,研究组采用髓芯扩大减压自体髂骨打压植骨结合骼金骨笼植入支撑治疗,对照组采用传统髓芯减压术治疗。对患者髋关节功能状况、塌陷情况进行比较分析。结果根据髋关节Harris评分,研究组优良率明显高于对照组研究组(0.05);研究组仅出现1例塌陷,对照组出现8例,两组比较差异显著(0.05)。结论髓芯减压植骨结合骼金骨笼置入治疗早期非创伤性股骨头坏死可明显改善髋关节功能,防止股骨头塌陷,疗效满意。     

家族性胃癌研究进展

随着分子遗传学的发展,人们对家族性胃癌的遗传学基础、发生机制、临床病理特征有了新的认识。积极开展家族性胃癌的遗传学检测,采取合理的预防性手术能有效地降低家族性胃癌的发生。     

家族性胃癌研究进展

随着分子遗传学的发展，人们对家族性胃癌的遗传学基础、发生机制、临床病理特征有了新的认识。积极开展家族性胃癌的遗传学检测，采取合理的预防性手术能有效地降低家族性胃癌的发生。     

甲状腺癌术后并发侵袭性纤维瘤的诊断与手术治疗

目的探讨甲状腺癌术后并发侵袭性纤维瘤的诊治方法和经验。方法 2014年1月16日我院收治1例甲状腺癌患者,在甲状腺癌术后8个月常规随访时发现左侧颈部肿块,超声检查提示左颈部3~5区肌层内见58 mm×30 mm低回声,进一步穿刺病检诊断为侵袭性纤维瘤,再次入院行左侧颈部肿瘤根治性切除术。本文收集、整理此例患者的临床、病理以及影像学资料,结合文献探讨其诊治经验。结果患者行左侧颈部包块肿瘤根治性切除术后病理确诊断确诊为左侧颈部侵袭性纤维瘤。患者积极配合围手术期治疗,术后恢复较好,随访至今未见复发。讨论甲状腺癌并发侵袭性纤维瘤患者需要早期确诊并及早手术治疗。     

甲状腺癌超声诊断与病理诊断对比分析和研究

目的 比较超声诊断与病理诊断甲状腺癌的符合率,探讨甲状腺癌超声诊断的特点以及临床诊断价值.方法 对159例甲状腺疾病患者超声诊断后,诊断结果与术后病理学检查和穿刺细胞学诊断确诊结果比较分析.结果 159例患者超声诊断甲状腺癌47例(与病理诊断结果相比符合率68.1％)、甲状腺良性肿瘤40例(83.3％)、甲状腺炎42例(100％),与病理诊断结果相比,差异无统计学意义(P＞0.05).30例诊断不符合,其中22例甲状腺癌被误诊为良性肿瘤,6例良性肿瘤被误诊为甲状腺炎,2例良性肿瘤被误诊为甲状腺癌.甲状腺癌确诊病例中,超声确诊乳头状癌40例(81.6％),滤泡状癌5例(41.7％),髓样癌2例(25.0％),差异有统计学意义(P＜0.05);不同甲状腺癌超声影像表现中,乳头状癌与滤泡状癌和髓样癌超声影像相比,差异有统计学意义(P＜0.05),滤泡状癌和髓样癌超声影像比较,差异无统计学意义(P＞0.05).结论 超声检查诊断甲状腺癌具有优缺点,合理运用可提高诊断准确率     

Thyroid cancer of follicular cell origin in inherited tumor syndromes

Well-differentiated thyroid cancer accounts for 95% of thyroid malignancies. In contrast to medullary thyroid carcinoma, in which about 25% are familial, only 5% of follicular cell-derived thyroid carcinomas are a component of a familial cancer syndrome. The familial follicular cell-derived tumors or nonmedullary thyroid carcinoma encompass a heterogeneous group of diseases, and are classified into 2 distinct groups: syndromic-associated tumors, occurring in syndromes in which nonmedullary thyroid carcinomas are the predominant tumor encountered, and nonsyndromic tumors, those occurring in tumor syndromes in which thyroid involvement is a minor component. The first group, syndromic-associated tumors, includes phosphase and tensin (PTEN)-hamartoma tumor syndrome/Cowden syndrome, familial adenomatous polyposis/Gardner syndrome, Carney complex type 1, Werner syndrome, and Pendred syndrome. Other syndromes, as McCune Albright syndrome, Peutz-Jeghers syndrome, and Ataxia-teleangiectasia syndrome may be associated with the development of follicular cell-derived tumors, but the link is less established than the above syndromes. The syndromic-associated tumors are the focus of this review. The second group of familial follicular cell-derived tumors syndromes or nonsyndromic tumors, in which nonmedullary thyroid carcinomas are the major findings, include pure familial papillary thyroid carcinoma, with or without oxyphilia, familial papillary thyroid carcinoma with papillary renal cell carcinoma, and familial papillary thyroid carcinoma with multinodular goiter. This review will discuss the clinical and pathological findings of the patients with familial syndrome-associated tumors: PTEN-hamartoma tumor syndrome/Cowden syndrome, familial adenomatous polyposis syndrome, Carney complex type 1, Werner syndrome, and Pendred syndrome.     

Familial thyroid carcinoma: a diagnostic algorithm

Thyroid carcinomas derived from follicular cells are the most common endocrine malignancies, and papillary thyroid carcinoma (PTC) is the most common type. Although, the majority of papillary and follicular thyroid carcinomas (FTCs) are sporadic, familial forms have been described in recent years. Familial syndromes are classified into familial medullary thyroid carcinoma and familial nonmedullary thyroid carcinoma. Multifocal papillary carcinoma is the most frequent presentation of familial nonmedullary thyroid carcinoma, and based on clinico-pathologic findings it is divided into 2 groups. The first includes familial syndromes characterized by a predominance of nonthyroidal tumors, such as familial adenomatous polyposis, PTEN-hamartoma tumor syndrome, Carney complex type 1, and Werner syndrome. The second group includes familial syndromes characterized by a predominance of NMTC, such as pure familial (f) PTC with or without oxyphilia, fPTC with papillary renal cell carcinoma, and fPTC with multinodular goiter. Medullary thyroid carcinoma is derived from calcitonin-producing C cells. The familial form accounts for 20% to 25% of cases, and is usually a component of multiple endocrine neoplasia (MEN) IIA or IIB, or presents as pure familial medullary thyroid carcinoma syndrome. C-cell hyperplasia is the precursor lesion of these heritable syndromes. Some characteristic morphologic findings should alert the pathologist of a possible familial cancer syndrome, which may lead to further molecular genetic evaluation.     

Familial nonmedullary thyroid neoplasia

Thyroid carcinoma accounts for less than 1% of all human malignancies and carries one of the highest overall familial relative risks as compared with cancers from other sites. This is particularly true for medullary carcinoma, as well as for carcinomas of follicular cell origin in general, where inheritance has been implicated in 2.5 to 6.3% of the cases. Familial nonmedullary thyroid tumors show a variety of genetic mechanisms implicated in thyroid tumorigenesis and occur in several tumor-prone traits (e.g., familial adenomatous polyposis [FAP] and Cowden’s disease [CD]) or as the only or dominant inherited manifestation. The latter group includes the most common familial papillary carcinoma, in which environmental factors such as radiation exposure may also play an important etiological role. Familial follicular cell tumors show a variety of morphological features ranging from benign thyroid nodulation to carcinoma, usually develop in young individuals, and tend to be multicentric—an indication for total thyroidectomy to avoid tumor recurrence and potential risk of malignant transformation. The pathologist may play an important role in the histological interpretation of familial nonmedullary thyroid tumors, which may lead to further clinicogenetical investigations of the affected patient and family screening. Familial follicular cell thyroid neoplasms show a complex molecular biological pathway of tumorigenesis when compared between themselves and with their sporadic counterparts.     

Family with Graves disease,multinodular goiter,nonmedullary thyroid carcinoma,and alveolar rhabdomyosarcoma

Benign thyroid disease is a risk factor for nonmedullary thyroid carcinoma [Houlston and Stratton: Q J Med 88:685–693, 1995]. We report on a family with 7 members with benign and/or malignant thyroid neoplasia; one affected female died of a paravertebral alveolar rhabdomyosarcoma at age 20. The occurrence of thyroid nodular hyperplasia, nonmedullary thyroid cancer, and rhabdomyosarcoma in the same family may be due to chance, common environmental factors, or, most likely, genetic predisposition. Am. J. Med. Genet. 72:30–33, 1997. © 1997 Wiley-Liss, Inc.     

Prognostic factors in medullary thyroid carcinoma: evaluation of 741 patients from the German Medullary Thyroid Carcinoma Register

Summary A retrospective study of 741 patients with medullary thyroid carcinoma diagnosed between 1967 and 1991 was carried out by members of the German Medullary Thyroid Carcinoma Study Group to evaluate prognostic factors. A total of 559 patients (75%) were considered to have sporadic disease, and 182 (25%) had the familial type. The sex ratio (male to female) was 1:1.4 in sporadic disease patients, and the mean age at diagnosis was 45.9 years (range 5-81 years). For familial disease patients the sex ratio was 1:1.1, and the mean age at diagnosis was 33.4 (range 5–77 years). The follow-up time for 630 patients ranged from 1 month to 20.8 years (mean 13.0 years). The overall adjusted survival rate was 86.7% at 5 years and 64.2% at 10 years. In a univariate analysis the stage of disease at diagnosis, age, sex, and type of disease (sporadic, familial) were relevant prognostic factors, with a better prognosis for young female patients with familial disease and diagnosed at an early stage. In a multivariate proportional hazards analysis, the difference in the survival rate of patients with familial disease versus those with the sporadic form disappeared, while prognostic information provided by age and sex was still significant. The poorer prognosis of patients with sporadic medullary thyroid carcinoma may be related to the patients' older age at detection and more advanced tumor stage at diagnosis. There seems to be no difference in biological behavior between tumors of the sporadic and those of the familial type.Abbreviations MTC medullary thyroid carcinoma - MEN multiple endocrine neoplasia - CT calcitonin See Appendix     

Hereditary and familial thyroid tumours

The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Hereditary thyroid neoplasms arising from calcitonin‐producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well‐documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome. Familial thyroid cancers arising from follicular cells are referred to as familial non‐medullary thyroid carcinoma (FNMTC), or familial follicular cell‐derived carcinoma. Clinicopathological correlations have resulted in the further subclassification of FNMTCs into two groups. Among the first group are found syndromes characterised by a predominance of non‐thyroidal tumours, including familial adenomatous polyposis, Cowden syndrome, Werner syndrome, Carney complex, and Pendred syndrome. The second group encompasses a spectrum of familial syndromes characterised by a predominance of non‐medullary thyroid tumours, such as pure familial papillary thyroid carcinoma with or without oxyphilia, familial papillary thyroid carcinoma with papillary renal cell carcinoma, and familial papillary carcinoma with multinodular goitre. Most familial thyroid cancers have been described as being more aggressive than sporadic thyroid cancers, with a predisposition for lymph node metastasis, extrathyroidal invasion, and a younger age of onset. The distinct thyroid pathology in some of these syndromes should alert the pathologist to a possible familial cancer syndrome.     

ULTRASTRUCTURAL STUDY OF THYROID MEDULLARY CARCINOMA

This study deals with 11 cases of thyroid medullary carcinoma of which 7 were familial cases including 3 cases of Sipple's syndrome and 4 cases of sporadic cases. There were also 2 cases of Cushing's syndrome. In addition to the previously described English literatures about human medullary carcinoma of the thyroid, the rod-shaped body with cristae and an abundant glycogen particles in the cytoplasm, nuclear inclusion bodies of cytoplasmic invagination and microvilli at the surface membrane of gland formation were found in our cases. The mean and mode diameters of secretory granules of all familial cases with only calcitonin secretion were larger than those of the sporadic cases with ectopic AGTH and beta-MSH in addition to calcitonin secretion. Ultrastructural study on non-cancerous follicles of grossly normal thyroid of two cases of early familial medullary carcinoma disclosed apparently increased C-cells which were not intrathyroidal metastases. It is supposed that the increased C-cells in the thyroid of the familial cases are multicentric C-cell hyperplasia. ACTA PATH. JAP. 27: 605˜622, 1977.