scholarly journals Comparison Between Clinicopathological Characteristics, BRAF V600E and TERT Promoter Mutation of Familial Non-Medullary Thyroid Carcinomas, and Sporadic Case

2021 ◽  
Vol 11 ◽  
Author(s):  
Tian Yang ◽  
Longsheng Huang ◽  
Chang Chen ◽  
Han Luo ◽  
Yong Jiang

BackgroundIt has been debated whether familial non-medullary thyroid carcinoma (FNMTC) is more aggressive and has a worse prognosis than sporadic non-medullary thyroid carcinoma (SNMTC). Our aim was to compare the invasiveness and prognosis of FNMTC and SNMTC by their biological behavior and molecular changes.Method and MaterialOur group mainly compared 106 patients with FNMTC whom have complete clinicopathological data during 2011–2019 in West China Hospital, Sichuan University, and 212 randomly selected cases with SNMTC were included to compare their biological behavior, recurrence and mortality, and molecular expression of BRAF V600E and TERT promoter. At the same time, FNMTC cases were divided into four subgroups, namely, two affected members group, three or more affected members, parent/offspring group, and sibling group, and they were compared with SNMTC separately to analyze the difference in their invasiveness and prognosis.ResultsWe found that the mean tumor size of FNMTC (0.96 ± 0.53cm) was smaller than that of SNMTC (1.15 ± 0.72 cm) (p = 0.020), while no significant difference in the incidence of other clinicopathological factors, including bilateral growth, capsular invasion, with thyroid nodular goiter or not, multifocality, lymph node metastasis, extrathyroidal extension, iodine 131 treatments, T stage, and American Joint Committee on Cancer (AJCC) stage, was observed between FNMTC and SNMTC (p > 0.05), between each FNMTC subgroup (p > 0.05), and between each FNMTC subgroup and SNMTC (p > 0.05). There was no significant difference in recurrence, mortality, and BRAF V600E and TERT promoter mutation between FNMTC and SNMTC, among which 50/60 (83.33%) of FNMTC patients had BRAF V600E mutation and 1/32 (3.13%) had TERT promoter mutation, while the mutation rates of SNMTC were 93/108 (86.11%) and 3/64 (4.69%) (p > 0.05).ConclusionThere was no significant difference in invasiveness and prognosis between FNMTC and SNMTC by biological behavior, patient survival, and molecular level comparison.

2013 ◽  
Vol 168 (5) ◽  
pp. 779-786 ◽  
Author(s):  
J A A Meijer ◽  
L E H Bakker ◽  
G D Valk ◽  
W W de Herder ◽  
J H W de Wilt ◽  
...  

ObjectiveRadioactive iodine (RAI) therapy in medullary thyroid carcinoma (MTC) is applied in some centers, based on the assumption that cross-irradiation from thyroid follicular cells may be beneficial. However, no systematic studies on the effect of RAI treatment in MTC have been performed. The aim of this study was to analyze the effect of RAI treatment on survival in MTC patients.DesignRetrospective multicenter study in eight University Medical Centers in The Netherlands.MethodsTwo hundred and ninety three MTC patients without distant metastases who had undergone a total thyroidectomy were included between 1980 and 2007. Patients were stratified by clinical appearance, hereditary stage, screening status, and localization. All patients underwent regular surgical treatment with additional RAI treatment in 61 patients. Main outcome measures were disease-free survival (DFS) and disease-specific survival (DSS). Cure was defined as biochemical and radiological absence of disease.ResultsIn multivariate analysis, stratification according to clinical appearance (P=0.72), hereditary stage (P=0.96), localization (P=0.69), and screening status (P=0.31) revealed no significant effects of RAI treatment on DFS. Multivariate analysis showed no significant difference in DSS for the two groups stratified according to clinical appearance (P=0.14). Owing to limited number of events, multivariate analysis was not possible for DSS in the other groups of stratification.ConclusionsBased on the results of the present analysis, we conclude that RAI has no place in the treatment of MTC.


2020 ◽  
Author(s):  
Yuanyuan Lei ◽  
Wenting Huang ◽  
Qiuxiao Yu ◽  
Sha Feng ◽  
Guihua Shen ◽  
...  

Abstract Objective: To investigate the invasive capability and other clinicopathological features of conventional papillary thyroid carcinoma (CVPTC) with intralobular lymphatic dissemination.Methods: Seventy-three CVPTC patients receiving total thyroidectomy were analyzed in this study. The expression of BRAF-V600E, D2-40 and CD31 in all thyroid samples was detected by immunohistochemical staining (IHC). The results were evaluated by two pathologists and were statistically analyzed. In addition, the rate of positive BRAF-V600E expression and the clinical invasiveness of CVPTC with intralobular dissemination (ID-CVPTC), multiple primary CVPTC (MP-CVPTC) and single focus CVPTC (SF-CVPTC) were evaluated. The correlation between BRAF-V600E expression, lymphatic vessel density (LVD), microvessel density (MVD) and the clinicopathological characteristics of CVPTC were assessed.Results: Twenty-five ID-CVPTC, 17 MP-CVPTC and 31 SF-CVPTC cases were included in this study. The positive expression rate of BRAF-V600E in ID-CVPTC (92.0%) was significantly higher than that in MP-CVPTC (70.6%) and SF-CVPTC (71.0%), while no significant difference in expression between MP-CVPTC and SF-CVPTC was detected (P > 0.05). The expression of BRAF-V600E was not related to clinicopathological features, including age, gender, lymph node metastasis (LNM), bilateral involvement, presence of vascular tumor thrombus, capsule invasion, nerve invasion or the maximum tumor diameter (P > 0.05). The LVD in the ID-CVPTC group (9.74 ± 2.98) was higher than that in the non-ID-CVPTC group (7.46 ± 2.5) (P < 0.05). Compared with cases without adenolobar dissemination, ID-CVPTC was associated with a younger age, higher LNM rate, and increased capsule and vessel invasiveness (P < 0.05).Conclusions: ID-CVPTC shows more aggressive features, and intralobular lymphatic dissemination may be a potential biological indicator of poor prognosis.


1985 ◽  
Vol 71 (4) ◽  
pp. 397-401 ◽  
Author(s):  
A.S. Fassina ◽  
A. Scapinello ◽  
M.R. Pelizzo ◽  
P. Dall'Orto ◽  
G. Viale ◽  
...  

A case of multiple endocrine neoplasm (MEN) type IIa and 2 cases of MEN type IIb are reported. The biological behavior of medullary thyroid carcinoma was more aggressive in the MEN type IIb. C-cell hyperplasia was present in the thyroid gland of the patient with a positive family history.


Author(s):  
Andreas Kiriakopoulos ◽  
Anastasia Dimopoulou ◽  
Constantinos Nastos ◽  
Dimitra Dimopoulou ◽  
Konstantina Dimopoulou ◽  
...  

Abstract Medullary thyroid carcinoma (MTC) is a distinct type of malignant thyroid tumor in cell origin, biological behavior, and natural history. It accounts for 1.6% of all thyroid cancers and presents either sporadically or as a hereditary disease, the latter occurring as a part of multiple endocrine neoplasia (MEN) 2A and MEN2B syndromes or as a familial MTC disease with no other manifestations. The gene responsible for the hereditary form is the rearranged during transfection (RET) gene, a proto-oncogene located to human chromosome 10. Most pediatric MTC cases have been discovered after genetic testing investigations, leading to the concept of prophylactic surgery in presymptomatic patients. Therefore, the genetic status of the child, along with serum calcitonin levels and ultrasonographic findings, determine the appropriate age for prophylactic surgical intervention. Nevertheless, a diagnosis at an early stage of MTC warrants total thyroidectomy and central lymph node dissection with the addition of lateral/contralateral lymph node dissection depending on the tumor size, ultrasonographic evidence of neck disease, or calcitonin levels. Conversely, locally advanced/unresectable or metastatic MTC is primarily treated with multikinase inhibitors, while more specific RET inhibitors are being tested in clinical trials with promising results.


2010 ◽  
Vol 25 (3) ◽  
pp. 183 ◽  
Author(s):  
Hye Won Jang ◽  
Ji In Lee ◽  
Kyu Yeon Hur ◽  
Jae Hyeon Kim ◽  
Sun Wook Kim ◽  
...  

Author(s):  
Claudio Spinelli ◽  
Irene Piccolotti ◽  
Alessia Bertocchini ◽  
Riccardo Morganti ◽  
Gabriele Materazzi ◽  
...  

Abstract Background The purpose of the article was to evaluate the existence of significant clinical, pathological and prognostic differences between familial and sporadic form of pediatric non-medullary thyroid carcinoma, in order to tailor the therapeutic strategy to be adopted for patients with family history. Methods We analyzed the records of 76 pediatric patients that underwent surgery for differentiated thyroid cancer from 2014 to 2019 at the Surgical Pathology Department of the University of Pisa, Italy. Among these, 20 (26,3%) had positive family history (familial non-medullary thyroid carcinoma—FNMTC group) while 56 (73.7%) were affected by sporadic forms (sporadic non-medullary thyroid carcinoma—SNMTC group). Results In our study, the correlation between the FNMTC and the SNMTC group showed no difference in terms of tumor features like multifocality, bilaterality, capsular/extracapsular invasion and the presence of vascular emboli. A statistical significance, on the other hand, was revealed by observation of clinical outcomes, such as distant metastasis (p = 0,022), persistence of disease (p = 0,054) and necessity of radioiodine sessions (p = 0,005). Conclusions These findings suggest that family history may have an independent role on the outcome, expressing its action through an intrinsic more aggressive biological behavior. Therefore, familial non-medullary thyroid carcinoma in children represents a nosological entity that requires an accurate pre-operative evaluation, an adequate surgical strategy and a careful follow up.


Author(s):  
Shihong Ma ◽  
Hui Wang ◽  
Wanling Li ◽  
Zhe Yan ◽  
Xuanming Luo ◽  
...  

To explore the correlation between the activating transcription factor 4 (ATF4) and procalcitonin (PCT) expressions combined with RET mutation and the pathological staging and clinical prognosis of sporadic medullary thyroid carcinoma (SMTC). Fifty cases (tumor tissue) of SMTC diagnosed by clinicopathology were collected and the patients with nodular goiter were selected as normal control. The RET mutation site was analyzed by detection kit and expressions of PCT and ATF4 in SMTC were analyzed by Western blot and immunohistochemistry. Multiple linear regression was used to analyze the correlation of risk factors (PCT or ATF4 expression, RET mutation, tumor differentiation, SMTC stage, lymphatic metastasis) for 5-year recurrence and survival of SMTC. The ATF4 and PCT expressions were significantly decreased and increased, respectively, with the increase of the SMTC stage. The most frequent mutation of RET gene in cancer tissue was M 22458A in exon 16. The ATF4 and PCT expressions, as well as RET mutation, were significantly associated with a 5-year recurrence, while the ATF4 expression was significantly related to better 5-year survival. ATF4 and PCT expressions combined with RET mutation are related to the clinical prognosis of SMTC and can predict SMTC staging.


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