scholarly journals ENDOCRINE TUMOURS: Genetic predictors of thyroid cancer outcome

2016 ◽  
Vol 174 (4) ◽  
pp. R117-R126 ◽  
Author(s):  
Catarina Tavares ◽  
Miguel Melo ◽  
José Manuel Cameselle-Teijeiro ◽  
Paula Soares ◽  
Manuel Sobrinho-Simões

Genetic predictors of outcome are reviewed in the context of a disease – cancer – that can be (too) simplistically described as a ‘successful, invasive clone of our own tissues’. Context has many faces that determine a thyroid cancer patient's outcome beyond the influence of genetic markers. There is also plenty of evidence on the prognostic meaning of the interplay between genetics and context/microenvironment factors (encapsulation, degree of invasion, staging, etc.). This review addresses only genetic alterations detected by molecular methods in surgically resected specimens, thus ruling out immunohistochemistry and (F)ISH, despite their crucial relevance as topographically oriented methods. For the sake of the discussion, well-differentiated carcinomas were divided into two main morphologic types: papillary carcinoma (classic and most variants) displaying BRAFV600E mutations and RET/papillary thyroid carcinoma rearrangements and the group of follicular patterned carcinomas that encompasses follicular carcinoma and the encapsulated form of follicular variant of papillary carcinoma, displaying RAS mutations and PAX8/PPARγ rearrangement. TERT promoter mutations have been recently described (and associated with distant metastases and reduced survival) in papillary and follicular carcinomas, as well as in poorly differentiated and undifferentiated carcinoma. TP53 mutations, previously thought to be restricted to less differentiated carcinomas, were also detected in papillary and follicular carcinoma and found to carry a guarded prognosis. Besides their putative importance for targeted therapies, the prognostic meaning of such mutations is discussed per se and in the setting of concurrent BRAF mutation.

2010 ◽  
Vol 1 (2) ◽  
pp. 129-131
Author(s):  
Arvind Krishnamurthy ◽  
KT Siddappa ◽  
Shirley Sundersingh ◽  
Satish Srinivas ◽  
Krishna Kumar

Abstract The incidence of hematogenous spread at the time of presentation of well-differentiated thyroid carcinoma is the range of 4 to 15%. Distant metastases in the most common cause of death from well-differentiated thyroid cancers. About 5% of papillary carcinoma and 25% of follicular carcinoma develop distant metastases. Distant metastases occur largely in the lungs and to a lesser extent in the bones, brain and soft tissues. We report and discuss the management of an elderly gentleman with papillary carcinoma thyroid metastatic to the esophagus on follow-up. Only one similar published report is described which was from a follicular carcinoma thyroid. Our case of a papillary carcinoma thyroid metastatic to the esophagus seems to be the first if its kind.


2016 ◽  
Vol 150 (3-4) ◽  
pp. 194-207 ◽  
Author(s):  
Gustavo C. Penna ◽  
Fernanda Vaisman ◽  
Mario Vaisman ◽  
Manuel Sobrinho-Simões ◽  
Paula Soares

Thyroid cancer derived from follicular cells (TCDFC) comprises well-differentiated (papillary and follicular) carcinoma, poorly differentiated carcinoma, and anaplastic carcinoma. Papillary thyroid carcinoma is the most common endocrine cancer, and its incidence is steadily increasing. Lethality and aggressiveness of TCDFC is inversely correlated with differentiation degree. In this review, an emphasis has been put on molecular markers involved in tumorigenesis of thyroid carcinoma with a focus on aggressive histotypes and the role of such biomarkers in predicting thyroid cancer outcome. Genetic rearrangements in TCDFC (RET/PTC, PAX8/PPARG) and mutations in RAS, BRAF, TERT promoter (TERTp), TP53, PIK3CA, and AKT1 are discussed. The majority of the studies to date indicate that TERTp mutations can serve as a marker of more aggressive disease in all the subtypes of thyroid carcinoma, being the best current marker of poor prognosis, due to its independent association with distant metastases and increased disease-specific mortality. Some studies suggested that a more accurate prediction of thyroid cancer outcome may be possible through a more extensive genetic analysis. The same is true concerning the identification of other mutations that are only relatively frequent in advanced tumors (e.g., TP53, PIK3CA, or AKT1). A better understanding of the prognostic role of TERTp mutation (together with additional ones like BRAF, RAS, PIK3CA, AKT1, or TP53) and the clarification of their putative role in fine-needle aspiration biopsies are likely to allow, in the future, an early refinement of the stratification risk in patients with well-differentiated carcinomas. It is worth noting that, as with any categorical staging system, the risk evaluation within each category (low, intermediate, and high) varies depending on the specific clinicopathologic features of individual patients and the specific biological behavior of the tumor. Finally, besides the diagnostic and/or prognostic significance of the above-mentioned mutations, it is crucial to understand that the molecular pathways and epigenetic alterations will likely turn into interesting targets for new therapies.


2020 ◽  
Vol 27 (1) ◽  
pp. 107327482091466
Author(s):  
Chenyuan Li ◽  
Qi Wu ◽  
Shengrong Sun

Distant metastasis (DM) is the dominant negative prognosis for thyroid carcinoma. Radioactive iodine (RAI) therapy serves as an effective treatment for thyroid carcinoma. However, resistance to RAI occurs in patients with DMs. The present study aims to discriminate patients who may benefit from RAI. We extracted patients with thyroid cancer in the Surveillance, Epidemiology, and End Results program and analyzed thyroid cancer–specific survival after radiotherapy based on age and grade subgroups. A total of 1608 patients having DMs were eligible, including 521 (32.4%) cases with bone metastasis, 90 (5.6%) cases with brain metastasis, 158 (9.8%) cases with liver metastasis, 995 (61.9%) cases with lung metastasis, and 50 (3.1%) cases with other metastases. Advanced age, poor differentiation, follicular carcinoma, lymphatic metastasis, tumor size >10 mm, and extracapsular invasion are associated with pulmonary metastases. With respect to patients with DM, RAI therapy improved the survival in the age <45 years group and the well-/moderately differentiated group. For patients with pulmonary metastasis, RAI improved the survival in the higher grade group but did not have a strong effect in the better grade group. Our data indicate that the disparity of metastatic sites has different risk factors. Similarly, this finding indicates that RAI should be precisely applied to patients who undergo DM but are young and have well-/moderately differentiated tumors and may improve survival in pulmonary metastasis patients with poor grade tumors.


Gland Surgery ◽  
2020 ◽  
Vol 9 (5) ◽  
pp. 1857-1866
Author(s):  
Chan Kwon Jung ◽  
Sohee Lee ◽  
Ja Seong Bae ◽  
Dong-Jun Lim

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
I. Rachinsky ◽  
M. Rajaraman ◽  
W. D. Leslie ◽  
A. Zahedi ◽  
C. Jefford ◽  
...  

Background. Use of radioactive iodine (RAI) ablation has been reported to vary significantly between studies. We explored variation in RAI ablation care patterns between seven thyroid cancer treatment centers in Canada.Methods. The Canadian Collaborative Network for Cancer of the Thyroid (CANNECT) is a collaborative registry to describe and analyze patterns of care for thyroid cancer. We analyzed data from seven participating centers on RAI ablation in patients diagnosed with well-differentiated (papillary and follicular) thyroid cancer between 2000 and 2010. We compared RAI ablation protocols including indications (based on TNM staging), preparation protocols, and administered dose. We excluded patients with known distant metastases at time of RAI ablation.Results. We included 3072 patients. There were no significant differences in TNM stage over time. RAI use increased in earlier years and then declined. The fraction of patients receiving RAI varied significantly between centers, ranging between 20–85% for T1, 44–100% for T2, 58–100% for T3, and 59–100% for T4. There were significant differences in the RAI doses between centers. Finally, there was major variation in the use of thyroid hormone withdrawal or rhTSH for preparation of RAI ablation.Conclusion. Our study identified significant variation in use of RAI for ablation in patients with well-differentiated thyroid cancer both between Canadian centers and over time.


2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Nicole Pinto ◽  
Morgan Black ◽  
Krupal Patel ◽  
John Yoo ◽  
Joe S. Mymryk ◽  
...  

Thyroid cancer is an endocrine malignancy with an incidence rate that has been increasing steadily over the past 30 years. While well-differentiated subtypes have a favorable prognosis when treated with surgical resection and radioiodine, undifferentiated subtypes, such as anaplastic thyroid cancer (ATC), are far more aggressive and have a poor prognosis. Conventional therapies (surgical resection, radiation, chemotherapy, and radioiodine) have been utilized for treatment of ATC, yet these treatments have not significantly improved the overall mortality rate. As cancer is a genetic disease, genetic alterations such as mutations, fusions, activation of oncogenes, and silencing of tumor suppressors contribute to its aggressiveness. With the use of next-generation sequencing and the Cancer Genome Atlas, mutation-directed therapy is recognized as the upcoming standard of care. In this review, we highlight the known genetic landscape of ATC and the need for a comprehensive genetic characterization of this disease in order to identify additional therapeutic targets to improve patient outcomes.


2013 ◽  
Vol 13 (2) ◽  
pp. 3-8
Author(s):  
Ilze Strumfa ◽  
Didzis Gailis ◽  
Ervins Vasko ◽  
Andrejs Vanags ◽  
Arturs Ozolins ◽  
...  

Abstract Introduction Health care statistics provides a solid evidence of increasing thyroid cancer prevalence in Latvia. However, in order to characterise the problem of thyroid cancer more completely, histological type and stage of carcinomas as well as demographic characteristics of the affected patients would be as important as the total burden of new cases. Aim of the study was to provide detailed characteristics of the spectrum of surgically treated primary thyroid carcinoma. Materials and methods. The study was designed as retrospective research. Archives of a single university hospital were searched for consecutive, surgically treated or histologically proved cases of primary thyroid carcinoma (2008 - 2012). Each case was characterised by histological type, local tumour spread, largest diameter of the carcinoma, patient’s age and sex as well as extent of surgical treatment. Descriptive statistics was carried out by CIA software. Results. Archive search yielded 323 primary thyroid carcinoma cases, including 255 cases (78.9%; 95% confidence interval (CI) = 74.2 - 83.0) of papillary carcinoma, 54 cases (16.7%; 95% CI = 13.1 - 21.2%) of follicular carcinoma and 7 cases (2.2%; 95% CI = 1.1 - 4.4%) of medullary and anaplastic carcinoma. Although the youngest cases (aged 18 and 20 years) were diagnosed with papillary and follicular carcinoma, respectively, the mean age did not show statistically significant differences between the groups. Strong female predominance was observed regardless of cancer type. Regarding local tumour spread, pT1a was significantly more frequent in papillary carcinoma: 50.2% (95% CI = 44.1 - 56.3) in contrast to 18.5% (95% CI = 10.4 - 28.9) in case of follicular carcinoma. Total thyroidectomy was the most frequent type of operation that was applied for 28.6 - 71.4% cases in relation to histological type. Conclusions. This is the first research work in Latvia that comprehends the overall review of the morphological spectrum of thyroid carcinoma in the surgical material. Papillary and follicular carcinomas are the most frequently identified types in accordance with the global data. Much less common morphological forms of thyroid tumours were also diagnosed - medullary carcinoma and anaplastic thyroid carcinoma. The large mean diameter of follicular carcinoma in the surgery material and the fact that more than half of follicular carcinomas are revealed as pT2-T3 tumours highlights the necessity for up-to-dated diagnostics and elaboration of reliable novel molecular tests.


2019 ◽  
Vol 6 (4) ◽  
pp. 1063
Author(s):  
Asem Fayed Moustafa ◽  
Mohammed Sabery Ammar ◽  
Asmaa El-Hantour ◽  
Ahmed Farag El-Kased

Background: The objective of the study was to explore the relationship between TSH and differentiated thyroid cancer.Methods: From September 2017-September 2018, two groups included 247 euthyroid patients with thyroid swelling who had thyroidectomy studied retrospectively and prospectively by observing preoperative TSH level. Euthyroid adult patients with differentiated thyroid cancer and benign thyroid conditions and euthyroid patients with any thyroid diseases who will going to have thyroidectomy were included otherwise other thyroid conditions were excluded. Patients were classified into 192 retrospective cases (Group I) and 55 prospective cases (Group II).Results: Increased age of malignant cases with a female predominance. All cases presented with a neck swelling. Clinically in group I nodular swelling in 156 cases (81.2%), diffuse swelling in 36 cases (18.8%) and in group II, nodular swelling in 47 cases (85.5%) and diffuse swelling in 8 cases (14.5%). Histopathology of group I thyroid adenoma in 5 cases (4.8%) and multinodular goiter in 100 cases (95.2%). In addition 80 cases (92%) were papillary carcinoma and follicular carcinoma in 7 cases (8%) while in group II; multinodular goiter in29 cases (100%) and papillary carcinoma in 21 cases (80.8%) as well as follicular carcinoma in 5 cases (19.2%) in malignant cases. Group I showed a significant increase in TSH in malignant cases with the same finding in group II.Conclusions: TSH is an indicator for thyroid malignancy and FNAC biopsy is recommended for thyroid swellings showed elevated TSH. 


2012 ◽  
Vol 3 (3) ◽  
pp. 184-186
Author(s):  
S Kumar ◽  
Ambikavathy Mohan ◽  
Udaya Kumar

ABSTRACT Thyroid carcinoma comprises 1% of all malignancies. Follicular thyroid carcinoma is the second most common cancer of thyroid. Vascular invasion and hematogenous metastases to bone, lungs, brain, skin and adrenal glands has a reported incidence of 11 to 25%. The initial presentation of the patient with distant metastases is rare. Well-differentiated thyroid cancers with renal secondaries are reported in limited number of cases so far. W e report a case of an asymptomatic female patient who presented to us with soft tissue metastases to scalp, left sc apular regio n an d left k idn ey. On furth er evalu atin g, ultrasound of the neck showed a solitary nodule of 2 × 1 cm in the left lobe of thyroid. Fine needle aspiration cytology (FNAC) of thyroid reported as follicular carcinoma. FNAC of scalp, scapular swelling, and left kidney lesion was reported as metastatic lesions from follicular thyroid cancer. The patient refused any surgical intervention and she received three cycles of chemotherapy and suppressive treatment with L-thyroxine. She is on regular follow-up with the stable disease till date. We present this case for its rarity of renal metastases from follicular thyroid cancer. How to cite this article Mohan A, Kumar S, Kumar U. Atypical Presentation as Unilateral Renal and Soft Tissue Metastases from Follicular Carcinoma Thyroid. Int J Head and Neck Surg 2012;3(3):184-186.


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