Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases.

2003 ◽  
pp. 591-600 ◽  
Author(s):  
D F√ºhrer ◽  
A Tannapfel ◽  
O Sabri ◽  
P Lamesch ◽  
R Paschke
Keyword(s):  
Thyroid Carcinoma ◽  
Thyroid Nodules ◽  
Lung Metastases ◽  
Follicular Thyroid Carcinoma ◽  
Follicular Carcinoma ◽  
Genetic Alterations ◽  
Tsh Receptor ◽  
Small Nodule ◽  
Ras Genes ◽  
First Case

In a 59-year-old patient, thyroid follicular cancer was diagnosed in two right-sided toxic thyroid nodules, which had presented clinically as unilateral thyroid autonomy. In addition, the patient had histologically proven lung metastases of thyroid cancer; however, these failed to exhibit iodine uptake and were resistant to radioiodine treatment. The functional activity of the thyroid nodules prompted us to screen for TSH receptor (TSHR) mutations, and the histological diagnosis of follicular carcinoma led us to search for the PAX8-PPARgamma1 rearrangement and mutations in the ras genes. Each thyroid nodule harboured a different TSHR mutation (large nodule, Asp633Tyr; small nodule, Phe631Ile). Presence of both mutations in one sample suggestive of local invasion of a thyroid carcinoma could not be demonstrated, although several specimens from different nodule locations were screened. Only the wild-type TSHR sequence was identified in the histologically normal left thyroid lobe, and no genetic alterations were found in the other investigated genes. No TSHR mutations were detected in the pulmonary metastases. This is the first case report of a patient with toxic follicular thyroid carcinoma harbouring two different TSHR mutations and presenting with non-functional lung metastases.

scholarly journals Hyperfunctioning Solid/Trabecular Follicular Carcinoma of the Thyroid Gland

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Luca Giovanella ◽  
Fabrizio Fasolini ◽  
Sergio Suriano ◽  
Luca Mazzucchelli
Keyword(s):  
Thyroid Carcinoma ◽  
Follicular Thyroid Carcinoma ◽  
Histopathological Examination ◽  
Thyroid Tissue ◽  
Follicular Carcinoma ◽  
First Case ◽  
Right Lobe ◽  
Rare Malignancy ◽  
The Right ◽  
Trabecular Carcinoma

A 68-year-old woman with solid/trabecular follicular thyroid carcinoma inside of an autonomously functioning thyroid nodule is described in this paper. The patient was referred to our clinic for swelling of the neck and an increased pulse rate. Ultrasonography showed a slightly hypoechoic nodule in the right lobe of the thyroid. Despite suppressed TSH levels, the -pertechnetate scan showed a hot area corresponding to the nodule with a suppressed uptake in the remaining thyroid tissue. Histopathological examination of the nodule revealed a solid/trabecular follicular thyroid carcinoma. To the best of our knowledge, this is the first case of hyperfunctioning follicular solid/trabecular carcinoma reported in the literature. Even if a hyperfunctioning thyroid carcinoma is an extremely rare malignancy, careful management is recommended so that a malignancy will not be overlooked in the hot thyroid nodules.

scholarly journals Prevalence and pattern of thyroid malignancy in thyroid nodule in Aseer Central Hospital in KSA

2017 ◽  
Vol 3 (4) ◽  
pp. 908 ◽  
Author(s):  
Jibril Yahya Hudise ◽  
Khalid Ali Alshehri ◽  
Saad Nasser Alqarni ◽  
Yara Assiri ◽  
Ashwaq Asiri ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Nodule ◽  
Cell Carcinoma ◽  
Thyroid Nodules ◽  
Follicular Thyroid Carcinoma ◽  
Papillary Thyroid ◽  
Thyroid Malignancy ◽  
Central Hospital ◽  
Medullary Thyroid

<p class="abstract"><strong>Background:</strong> <span lang="EN-IN">Thyroid nodules are common in the general population, especially in women. Non palpable nodules are often found when patients undergo diagnostic imaging such as ultrasonogra­phy and computed tomography of the chest and neck. This retrospective study to assess the Prevalence of thyroid malignancy in thyroid nodule related to gender, age, and pathology, in Aseer Central Hospital KSA. </span></p><p class="abstract"><strong>Methods:</strong> <span lang="EN-IN">During a 5-year period (2011–2016), the medical records of 319 patients with thyroid nodules were collected from the department of pathology at Aseer Central Hospital KSA. The cases were reviewed for data on gender, age, and the pathological result. All patients underwent hemi or total thyroidectomy. Comparisons between genders, age groups, and tissue origins were performed. All statistical tests were performed with SPSS software.  </span></p><p class="abstract"><strong>Results:</strong> <span lang="EN-IN">Over a period of 5 years, a total of 319 patients: male 17.2% and female 82.8% Underwent for hemi or total thyroidectomy. The age of presentation was ranging from 14 to 80 years. Among the 319 cases of thyroid nodules 73.7% were benign nodules and 26.3% malignant nodules. Papillary thyroid carcinoma in 72.6%, follicular thyroid carcinoma 10.6%, Hurthle cell carcinoma 4.8%, anaplastic carcinoma 4.8%, thyroid lymphoma 4.8% and medullary thyroid carcinoma in 2.4%. </span></p><p class="abstract"><strong>Conclusions:</strong> <span lang="EN-IN">Thyroid nodule is a common clinical problem and the proportion of such nodules that prove to be malignant is not small, investigations are of immense help to corroborate with the clinical and morphological finding. Papillary thyroid carcinoma most common malignant thyroid carcinoma followed by follicular thyroid carcinoma, hurthel cell carcinoma, anaplastic thyroid carcinoma, lymphoma and finally medullary thyroid Carcinoma. No significant different between male and female as risk factors for malignancy.</span></p>

scholarly journals INCIDENTAL PULMONARY METASTASES REVEALING SUBCENTIMETER PAPILLARY THYROID CARCINOMA

2020 ◽  
Vol 6 (5) ◽  
pp. e273-e278
Author(s):  
Ruey Hu ◽  
George Xu ◽  
Thomas Stricker ◽  
Bingshan Li ◽  
Vivian L. Weiss ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Active Surveillance ◽  
Thyroid Nodules ◽  
Lung Metastases ◽  
Molecular Testing ◽  
American Thyroid Association ◽  
Cancer Genes ◽  
Papillary Thyroid

Objective: Here we present 2 cases of papillary thyroid microcarcinomas (PMCs) that had metastasized at presentation. The 2015 American Thyroid Association and the American College of Radiology Thyroid Imaging Reporting and Data System (TI-RADS) criteria do not recommend biopsy of the majority of subcentimeter thyroid nodules, as PMCs are mostly indolent with excellent prognosis. However, the paradigm of active surveillance presents a conundrum on how to identify the rare patient with distant metastatic disease while avoiding unnecessary intervention in the majority. Methods: After initial discovery of incidental lesions on chest computed tomography, core or wedge biopsies of the lung lesion were performed. Thyroid nodules on ultrasound were classified by TI-RADS. Tumor DNA was sequenced, annotated, filtered on 119 known cancer genes, and filtered for variants with an exome allele frequency of <0.001. Results: A 70-year-old woman and a 29-year-old woman presented with incidental pulmonary lesions on computed tomography scan. Lung biopsy revealed lung metastases from papillary thyroid carcinoma. The thyroid nodules in both patients were TI-RADS 3 and American Thyroid Association low-suspicion. Molecular testing showed a c.1721C>G mutation (p.Thr574Ser) in the TSHR gene in patient 1 and a codon 61 mutation in the NRAS gene in patient 2. Both patients were iodine-avid, with complete structural remission in one patient and ongoing treatment with evidence of structural response in the other. Conclusion: The 2 presentations demonstrate unexpected and concerning behavior of PMCs. Both thyroid tumors were subcentimeter in diameter, meaning they would have escaped detection using traditional risk-stratification algorithms in active surveillance. Further knowledge of tumor genetics and microenvironment may assist in predicting tumor behavior in PMCs.

Late sino-nasal metastasis from follicular thyroid carcinoma

1994 ◽  
Vol 108 (11) ◽  
pp. 1010-1011 ◽  
Author(s):  
V. L. Cumberworth ◽  
A. Ohri ◽  
G. Morrissey ◽  
R. Stirling
Keyword(s):  
Thyroid Carcinoma ◽  
Nasal Cavity ◽  
Rare Case ◽  
Follicular Thyroid Carcinoma ◽  
Follicular Carcinoma ◽  
Diagnosis And Treatment ◽  
Primary Malignancy

AbstractWe report a rare case of metastasis of a follicular carcinoma of the thyroid to the sino-nasal cavity 12 years after diagnosis and treatment of the primary malignancy and review the literature of previously reported cases.

scholarly journals Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good 131I treatment response

2016 ◽  
Vol 2016 ◽  
Author(s):  
Jin-Ying Lu ◽  
Po-Ju Hung ◽  
Pei-Lung Chen ◽  
Ruoh-Fang Yen ◽  
Kuan-Ting Kuo ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Treatment Response ◽  
Radioactive Iodine ◽  
Follicular Thyroid Carcinoma ◽  
Follicular Carcinoma ◽  
List Type ◽  
131I Treatment ◽  
Autonomously Functioning Thyroid Nodules ◽  
Iodine Treatment ◽  
Gs Alpha

Summary We report a case of follicular thyroid carcinoma with concomitant NRAS p.Q61K and GNAS p.R201H mutations, which manifested as a 13.5 cm thyroid mass with lung, humerus and T9 spine metastases, and exhibited good response to radioactive iodine treatment. Learning points GNAS p.R201H somatic mutation is an activating or gain-of-function mutation resulting in constitutively activated Gs-alpha protein and downstream cAMP cascade, independent of TSH signaling, causing autonomously functioning thyroid nodules. NRAS p.Q61K mutations with GNAS p.R201H mutations are known for a good radioactive iodine treatment response. Further exploration of the GNAS-activating pathway may provide therapeutic insights into the treatment of metastatic follicular carcinoma.

scholarly journals Are prognostic scoring systems of value in patients with follicular thyroid carcinoma?

2013 ◽  
Vol 169 (6) ◽  
pp. 821-827 ◽  
Author(s):  
A Ríos ◽  
J M Rodríguez ◽  
B Ferri ◽  
E Matínez-Barba ◽  
B Febrero ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Follicular Thyroid Carcinoma ◽  
Follicular Carcinoma ◽  
Scoring Systems ◽  
Survival Prediction ◽  
Tnm System ◽  
Cox's Regression ◽  
Group 2 ◽  
The One ◽  
Disease Free

PurposeMost prognostic systems for differentiated carcinoma have been designed for papillary carcinoma.ObjectiveTo analyze the value of the existing prognostic systems for evaluating follicular carcinoma and to determine whether any of them have a better predictive effect.MethodsA total of 66 follicular carcinomas were analyzed. The following prognostic systems were studied: EORTC, AGES, AMES, MACIS, TNM, and NTCTCS.ResultsThe AGES and AMES systems did not demonstrate a good prognostic correlation. In the EORTC system, the rate of disease-free patients was 89% in group 1, 75% in group 2, 69% in group 3, and 0% in group 4. The MACIS system showed 83, 60, 67, and 0% of disease-free patients respectively. The TNM system showed 81, 71, 50, and 0% of disease-free patients respectively. Finally, the NTCTCS system demonstrated 100, 84, 53, and 0% of disease-free patients respectively. Cox's regression analysis was used to calculate the proportion of variation in survival time explained (PVE). The prognostic classification system with the greatest survival prediction was EORTC at 67.64% of PVE, followed by TNM at 62.5% of PVE, and MACIS at 57.82% of PVE.ConclusionsMACIS and TNM are good prognostic systems for evaluating follicular thyroid carcinoma, although the one with the most prognostic value was the EORTC system.

scholarly journals Identification of a paired box gene 8–peroxisome proliferator-activated receptor gamma (PAX8–PPARγ) rearrangement mosaicism in a patient with an autonomous functioning follicular thyroid carcinoma bearing an activating mutation in the TSH receptor

2010 ◽  
Vol 17 (3) ◽  
pp. 599-610 ◽  
Author(s):  
J Lado-Abeal ◽  
R Celestino ◽  
S B Bravo ◽  
M E R Garcia-Rendueles ◽  
J de la Calzada ◽  
...  
Keyword(s):  
Growth Factors ◽  
Thyroid Carcinoma ◽  
Uterine Leiomyoma ◽  
Follicular Thyroid Carcinoma ◽  
Thyroid Tissue ◽  
Tsh Receptor ◽  
Peroxisome Proliferator ◽  
Normal Thyroid Tissue ◽  
Peroxisome Proliferator Activated Receptor ◽  
Normal Thyroid

Our main objective was to search for mutations in candidate genes and for paired box gene 8–peroxisome proliferator-activated receptor gamma (PAX8–PPARγ) rearrangement in a well-differentiated angioinvasive follicular thyroid carcinoma (FTC) causing hyperthyroidism. DNA and RNA were extracted from the patient's thyroid tumor, as well as ‘normal’ thyroid tissue, and from peripheral blood lymphocytes (PBLs) of the patient, her daughter, and two siblings. Nuclear isolation was extracted from the patient's tumor, ’normal’ thyroid tissue, PBLs, and uterine leiomyoma tissue. TSH receptor (TSHR), RAS, and BRAF genes were sequenced. We searched for PAX8–PPARγ in thyroid, PBL, and uterine leiomyoma samples from the patient and family members. Proliferative effects of detected mutants on non-transformed human thyrocytes cultures. An activating TSHR mutation, M453T, was detected in the tumor. PAX8 (exons 1–8+10)–PPARγ was found in all tested patient's tissues. A second rearrangement, PAX8 (exons 1–8)–PPARγ, was detected in the patient's normal thyroid tissue. Under deprived medium condition, co-transfection of PAX8–PPARγ and TSHR–M453T dramatically increased the number of thyrocytes, an effect that it was not observed with TSHR wild-type (WT); under complete medium conditions, co-transfection of PAX8–PPARγ with either TSHR–M453T or TSHR–WT inhibited cell proliferation. We report a patient with hyperthyroidism due to a FTC bearing an activating TSHR mutation and PAX8–PPARγ rearrangements. PAX8–PPARγ was present as a mosaicism affecting tissues from endodermal and mesodermal origin. PAX8–PPARγ and TSHR–M453T inhibited or promoted thyrocyte proliferation depending on medium conditions. The activating TSHR mutation could promote in vivo FTC development in PAX8–PPARγ-positive thyrocytes under poor blood supply with deprivation of growth factors but restraint the tumor growth when growth factors are supplied.

scholarly journals Growth Activation Alone Is Not Sufficient to Cause Metastatic Thyroid Cancer in a Mouse Model of Follicular Thyroid Carcinoma

Endocrinology ◽  
2010 ◽  
Vol 151 (4) ◽  
pp. 1929-1939 ◽  
Author(s):  
Changxue Lu ◽  
Li Zhao ◽  
Hao Ying ◽  
Mark C. Willingham ◽  
Sheue-yann Cheng
Keyword(s):  
Thyroid Hormone ◽  
Mouse Model ◽  
Thyroid Carcinoma ◽  
Focal Adhesion ◽  
Follicular Thyroid Carcinoma ◽  
Gene Knockout ◽  
Metastatic Cancer ◽  
Genetic Alterations ◽  
Human Thyroid ◽  
Migration And Invasion

TSH is the major stimulator of thyrocyte proliferation, but its role in thyroid carcinogenesis remains unclear. To address this question, we used a mouse model of follicular thyroid carcinoma (FTC) (TRβPV/PV mice). These mice, harboring a dominantly negative mutation (PV) of the thyroid hormone-β receptor (TRβ), exhibit increased serum thyroid hormone and elevated TSH. To eliminate TSH growth-stimulating effect, TRβPV/PV mice were crossed with TSH receptor gene knockout (TSHR−/−) mice. Wild-type siblings of TRβPV/PV mice were treated with an antithyroid agent, propylthiouracil, to elevate serum TSH for evaluating long-term TSH effect (WT-PTU mice). Thyroids from TRβPV/PVTSHR−/− showed impaired growth with no occurrence of FTC. Both WT-PTU and TRβPV/PV mice displayed enlarged thyroids, but only TRβPV/PV mice developed metastatic FTC. Molecular analyses indicate that PV acted, via multiple mechanisms, to activate the integrins-Src-focal adhesion kinase-p38 MAPK pathway and affect cytoskeletal restructuring to increase tumor cell migration and invasion. Thus, growth stimulated by TSH is a prerequisite but not sufficient for metastatic cancer to occur. Additional genetic alterations (such as PV), destined to alter focal adhesion and migration capacities, are required to empower hyperplastic follicular cells to invade and metastasize. These in vivo findings provide new insights in understanding carcinogenesis of the human thyroid.

scholarly journals Correlation between Age, Nodule Diameter, and TI-RADS Score in Thyroid Nodule Classification on Follicular Thyroid Carcinoma

2021 ◽  
Vol 8 (8) ◽  
pp. 385-391
Author(s):  
Kania Difa Parama Citta ◽  
Sahudi Sahudi ◽  
Iskandar Ali
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Carcinoma ◽  
Thyroid Nodule ◽  
Teaching Hospital ◽  
Thyroid Nodules ◽  
Follicular Thyroid Carcinoma ◽  
Data System ◽  
Endocrine Gland ◽  
Thyroid Ultrasound ◽  
Thyroid Imaging

Background: Thyroid cancer is a malignancy of the endocrine gland with the highest incidence. There are many radiological examination modalities that are used to help diagnose thyroid carcinoma, one of which is Ultrasonography. Ultrasonography (USG) can be useful to support the diagnosis of thyroid malignancy. A classification method that categorizes thyroid nodules based on risk for cancer, one of which is by using the Thyroid Imaging Reporting and Data System (TI-RADS). TI-RADS (Thyroid Imaging, Reporting and Data System) is a classification of thyroid ultrasound readings to differentiate between benign and malignant thyroid nodules. Several research efforts that have been done at Dr. Soetomo Hospital previously related to diagnostic of thyroid carcinoma but the results are meaningless and require large funds for the laboratory examination. The aim of this study is to make a relatively easy and inexpensive method using the TI-RADS classification, which is expected to assist in the preoperative diagnostics of a follicular thyroid carcinoma. It is hoped that there will be a method or modality that is easier, cheaper, accurate, and minimally invasive in predicting a follicular thyroid carcinoma. Methods: In this cross-sectional study, we included patients with thyroid mass who underwent treatment in Surgery Department, Dr. Soetomo Teaching Hospital between January 2012 and December 2020. In this study, we utilized the patients’ medical record to collect the necessary clinical data. The inclusion criteria in this study were patients with singular thyroid nodule, underwent thyroid ultrasound, and diagnosed as follicular nodular carcinoma by histopathology examination. Finally, a total of 53 patients were included for further analysis. Ethical approval was obtained from the Ethics Committee of Dr. Soetomo Teaching Hospital (Surabaya, Indonesia). Results: From a total of 53 research subjects, the subjects with the most age were more than 50 years old with a percentage of 52.8% or 28 patients and the rest, 47.2% or 25 patients. The results of this study indicates that nodule diameters less than 5 cm and more than 5 cm have almost the same number based on the number of data samples in this study, namely 53 patients. This can be seen from the number of respectively 27 (50.9%) and 26 (49%). In the TIRADS nodule score, the largest percentage obtained from medical data records in the form of a TIRADS score, namely a TIRADS score greater than TR 4 with a percentage of 60.4% or as many as 32 patients and the rest, namely a TIRADS score less than TR 4 of 39.6% or as much as 21 patients. In the third dependent variable, the authors looked for the odd ratio value for each variable on follicular carcinoma. The authors calculated the OR values ​​for each variable, obtaining results of 1.012 for age, 1.111 for nodule size, and 3.520 for TIRADS scores. Conclusion: There is a correlation between the TIRADS scores with the incidence of follicular thyroid carcinoma. Keywords: Thyroid cancer, TIRADS, Follicular Thyroid Carcinoma.

scholarly journals SUN-481 A Coexisting Primary Papillary Thyroid Carcinoma in a Case of Malignant Struma Ovarii with Follicular Thyroid Carcinoma: 2 Types of Thyroid Cancer in the Same Patient

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ghada Elshimy ◽  
Richa Bhattarai ◽  
Kelvin Tran ◽  
Ricardo Rafael Correa
Keyword(s):  
Thyroid Carcinoma ◽  
Total Thyroidectomy ◽  
Follicular Thyroid Carcinoma ◽  
Thyroid Tissue ◽  
Follicular Carcinoma ◽  
Good Prognosis ◽  
Struma Ovarii ◽  
Malignant Struma Ovarii ◽  
Lymph Node Sampling ◽  
Aortic Lymph Node

Abstract Introduction: Struma ovarii is a rare monodermal variant of ovarian teratoma diagnosed when thyroid tissue is more than 50% of the overall tissue. It represents only 1% of all ovarian tumors. The vast majority of struma ovarii are benign (95%); however, malignant tumors have been reported in a small percentage of cases. The most common type is papillary carcinoma(PTC), followed by typical follicular carcinoma found in the pathology after surgical oophorectomy. We report a case of malignant struma ovarii with follicular carcinoma in the setting of additional micro PTC found after total thyroidectomy. Case report: A 48-year-old female presented with right-sided pelvic pain and a mobile pelvic mass. Pelvic MRI showed noted a large complex solid mass with cystic components in the right adnexa. It measured 7.7 x 8.4 x 6.7 cm. Subsequently, the patient underwent a robotic hysterectomy, bilateral salpingo-oophorectomy (TAHBSO), bilateral pelvic and para-aortic lymph node sampling, omentectomy and resection of nodules. Final pathology noted an ovary with struma ovarii with well-differentiated follicular carcinoma, peritoneal nodules containing thyroid tissue and benign lymph nodes. Subsequently, iodine 123 SPECT CT showed physiologic uptake in the thyroid with increased uptake in the pelvis, right perirectal region indicating residual thyroid tissue. The patient underwent total thyroidectomy with radioactive ablation with I131 (154.7 mCi). Pathology detected incidental 0.5mm micro PTC and it was classified as staged pT1aN. 6 months postoperatively, thyroglobulin (Tg) and Tg antibodies were undetectable with no abnormalities found on repeat whole-body scans. The patient has been following up with no new issues for the past 5 years indicating a good prognosis with low risk of recurrence. Discussion and Conclusion: In the literature, Struma ovarii containing thyroid-type carcinoma and papillary or follicular thyroid carcinoma metastasizing to the ovary has been documented. The standard treatment of a patient with malignant struma ovarii is TAHBSO and complete surgical staging, including peritoneal washings for cytology, pelvic and para-aortic lymph node sampling, and omentectomy. In cases with the residual malignant disease after surgery, total thyroidectomy and radioactive ablation are recommended. Our case is a unique case given the presence of 2 different thyroid carcinoma in the same patient. In addition, our patient had multiple risk factors for recurrence including large lesions&gt;4 cm, extra ovarian extension, and the coexisting synchronous primary thyroid cancer, however, she had a good prognosis with no recurrence during the 5 years follow up period.

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