Results of Surgical Therapy in Patients with Medullary Thyroid Carcinoma.

Medullary thyroid carcinoma (MTC) is a rare form of malignancy, having an intermediate prognosis. Controversies exist regarding the best surgical approach. The aim of the study was to analyze the outcome in a group of patients with MTC, diagnosed and followed up in a single care center. We performed a retrospective analysis of all the patients diagnosed with MTC in the Department of Endocrinology from the County Emergency Hospital Timisoara between 1992 and 2012. The study group included 19 patients, 6 men (31.6 %), mean age 41.2 ± 12.5 years (20-72 years). The preoperative diagnosis was based on the protocol for nodular thyroid disease. Total or near-total thyroidectomy was performed in 10 out of 16 patients who could be operated. Postoperative follow-up included repeated measurements of serum calcitonin and imaging investigations. Nine out of the total of 19 (47.3 %) patients had hereditary forms of MTC. Most of the cases (84.2 %) were submitted to surgery. The median duration of follow-up was 84 months. The pTNM staging indicated that the majority of the patients with hereditary MTC were diagnosed in an earlier stage. Disease remission was achieved in 7 cases (43.8 %). Four patients, all with sporadic forms, died. Survival rates at 1, 5 and 10 years were significantly higher (p = 0.048) in patients with hereditary MTC. An early diagnosis of MTC allows a better surgical approach and an improved survival rate. We support the general recommendation that modified radical neck dissection is not necessary for all the patients with MTC.

Clinical, ultrasonographical and histopathological aspects in Hashimoto's thyroiditis associated with malignant and benign thyroid nodules.

INTRIDUCTION: The reported prevalence of chronic autoimmune thyroiditis associated with differentiated thyroid cancer (DTC) is heterogeneous.The aim of this study was to evaluate some epidemiological, clinical, sonographical and histological features of operated thyroidnodules with background diffuse autoimmune thyroiditis. MATERIAL AND METHODS: The study included 411 cases with Hashimoto's thyroiditis (HT), of which 118 presented thyroid nodular disease(TND). Thyroidectomy was performed in 76 cases. Of these patients, 24 presented histologically confirmed DTC and 52 benign lesions.DTC types were as follows: papillary thyroid cancer (PTC) (n = 6), follicular variant of PTC (FVPTC) (n = 6), papillary microcarcinomas(n = 8), follicular thyroid carcinoma (n = 1) and the mixed form (classic PTC and FVPTC) (n = 3). The benign nodules were dominatedby: follicular adenoma (48%), and colloid goitre (40.3%). RESULTS: The sonographic features with predictive risk for malignancy in cases with HT associated with TND were represented by: solidcomposition, hypoechogenicity and microcalcifications. The characters of margins, the nodular shape and the type of vascularity do notseem to be as useful for identification of malignant nodules in HT. Fine needle-aspiration biopsy (FNAB) showed in DTC cases differentcytological smears: malignant (ten), indeterminate (eight), benign (two), and non-diagnostic (four). In the group of benign nodules, theindeterminate smears represented also a significant percentage (n = 12). CONCLUSIONS: The incidence of TND associated with HT was 28.7%. Among 76 operated cases, 31.5% presented DTC. The accuracyof FNAB in the preoperative diagnosis showed higher sensitivity (90.0%) and specificity (61.5%) compared to sonographic criteria.

Some clinical aspects in chronic autoimmune thyroiditis associated with thyroid differentiated cancer.

BACKGROUND: The coexistence of Hashimoto's thyroiditis (HT) with differentiated thyroid cancer (DTC) was reported with a heterogeneous incidence. The wide distribution of this association may be related to differences in the level of morphological examination, autoimmunity used criteria, patient selection, surgical indication, genetic background, geographical and environmental factors.Some consider the coexistence of these two entities a coincidental one, others suspecting a causative link between these conditions. METHODS: This retrospective paper included 216 patients with HT, issued from an iodine-replete area. 21 cases of nodular HT were investigated by means of: thyroid functional tests (TFT), immunological determinations, thyroid ultrasonography (US) and cytological analysis.ALL CASES WERE OPERATED BECAUSE OF DIFFERENT REASONS: compressive symptoms and signs, suspicious sonographic features and certain cytological smears (malignant, indeterminate and non-diagnostic). RESULTS: The morphologic investigation revealed 9 patients with DTC and 12 cases with benign thyroid disease (BTD).None of the US analyzed characteristics provided sufficient accuracy for the diagnosis of DTC in cases with HT. The preoperative cytological examination by means of fine-needle-aspiration biopsy (FNAB) showed a better sensitivity and specificity vs. US criteria. CONCLUSION: The coexistence of HT with DTC represents a clinical reality with yet unknown significance. The difficulty of diagnosis imposes the corroboration of different types of investigations. The best diagnostic accuracy seems to be offered by thyroid US and thyroid cytological investigation.

Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation.

RET testing in multiple endocrine neoplasia type 2 for molecular diagnosis is the paradigm for the practice of clinical cancer genetics. However, precise data for distinct mutation-based risk profiles are not available. Here, we survey the clinical profile for one specific genotype as a model, TGC to TGG in codon 634 (C634W). By international efforts, we ascertained all available carriers of the RET C634W mutation. Age at diagnosis, penetrance, and clinical complications were analyzed for medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism (HPT), as well as overall survival. Our series comprises 92 carriers from 20 unrelated families worldwide. Sixty-eight subjects had MTC diagnosed at age 3-72 years (mean 29). Lymph node metastases were observed in 16 subjects aged 20-72 and distant metastases in 4 subjects aged 28-69. Forty-one subjects had pheochromocytoma detected at age 18-67 (mean 36). Amongst the 28 subjects with MTC and pheochromocytoma, six developed pheochromocytoma before MTC. Six subjects had HPT diagnosed at age 26-52 (mean 39). Eighteen subjects died; of the 16 with known causes of death, 8 died of pheochromocytoma and 4 of MTC. Penetrance for MTC is 52% by age 30 and 83% by age 50, for pheochromocytoma penetrance is 20% by age 30 and 67% by age 50, and for HPT penetrance is 3% by age 30 and 21% by age 50. These data provide, for the first time, RET C634W-specific neoplastic risk and age-related penetrance profiles. The data may facilitate risk assessment and genetic counseling.