scholarly journals A clinical case of hereditary papillary thyroid carcinoma associated with a germline DICER1 gene mutation

2017 ◽  
Vol 63 (5) ◽  
pp. 320-324
Author(s):  
Svetlana A. Babinskaya ◽  
Natalia Yu. Kalinchenko ◽  
Alexey A. Ilyin ◽  
Natalia V. Severskaya ◽  
Irina V. Chebotareva ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Gene Mutation ◽  
Multinodular Goiter ◽  
Clinical Case ◽  
Stop Codon ◽  
Molecular Genetic ◽  
Premature Stop Codon ◽  
Papillary Thyroid ◽  
Reading Frame

Here, we report a clinical case of isolated papillary thyroid cancer associated with a germline DICER1 gene mutation in a boy and his father. The father underwent surgery for a euthyroid multinodular goiter at the age of 7 and 9 years. On examination at the age of 27 years, he was diagnosed with papillary thyroid cancer. At the age of 7 years, the boy was suspected of having a multinodular goiter (based on thyroid ultrasonography findings); he underwent total thyroidectomy. A histological examination of the surgical material revealed encapsulated papillary carcinoma. Neither boy nor his father had been exposed to radiation or chemotherapy before the diagnosis of papillary thyroid cancer. To clarify the etiology of disease, a molecular genetic testing was performed using next-generation sequencing (NGS). The proband and his parent had a heterozygous thymine deletion in the exon 4 at position 380, which led to a shift in the reading frame with the formation of a premature stop codon (c.380delT p.L127QfsX3).

Molecular genetic factors in the development of papillary thyroid cancer in the Kazakh population

2018 ◽  
Vol 64 (3) ◽  
Author(s):  
Mayra Zhaksimanovna Espenbetova ◽  
Natalya Egorovna Glushkova ◽  
Ainur Serikovna Krykpayeva
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Case Control Study ◽  
Effective Means ◽  
Molecular Genetic ◽  
Control Group ◽  
Papillary Thyroid ◽  
Similar Work ◽  
Kazakh Population ◽  
Control Study

Introduction. In the last decade several population studies on the association of the genes NKX2-1 and FOXE1 with sporadic papillary thyroid cancer were conducted. In the Kazakh population of similar work to date were not conducted. The aim of this study was to study the genetic association of the FOXE1 (rs9655313) and NKX2-1 (rs944289) oncomarkers with papillary thyroid cancer in the Kazakh population. Materials and methods. We conducted a case-control study that allows us to retrospectively evaluate the association of NKX2-1 and FOXE1 genes and papillary thyroid cancer. Results. The frequency distribution of FOXE1 rs965513 polymorphism in the group of papillary thyroid cancer and the control group detected by healthy individuals was significantly different (χ2 = 100.09, D.f. = 2, p = 0.000). In the group of cases, the AA genotype (17.5%) was in three times more often compared with the control group (5.1%). The GG variant had a lower frequency in the group of persons of papillary thyroid cancer (37.9%) against the control group (61.4%), the odds ratio (OR) in the FOXE1 rs965513 group was 2.367. The distribution of the NKX2-1 (rs944289) polymorphism frequencies in the compared groups of values were significantly different (χ2 = 100.09, D.f. = 2, p = 0.000). In the group of cases, the genotype of TT (30.5%) against the control group (20.7%) was 1.5 times more common. The SS variant had a lower frequency of occurrence in the group of persons of papillary thyroid cancer (19.8%) against the control group (28.9%), OR in NKX2-1 (rs944289) group was 1.46. Conclusion. Carrying out screening for carriers of FOXE1 rs965513 and NKX2-1 (rs944289) can become an effective means of early diagnosis with a high frequency of its spread and associations with cases of papillary thyroid cancer in the Kazakh population.

scholarly journals Immunological aspects of papillary thyroid cancer. What's new?

2021 ◽  
Vol 16 (4) ◽  
pp. 14-18
Author(s):  
Ekaterina A. Troshina ◽  
Maria A. Terekhova ◽  
Ravida R. Akhmatova
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Malignant Tumors ◽  
Molecular Genetic ◽  
Endocrine Tumors ◽  
Papillary Thyroid ◽  
Area Of Interest ◽  
Oncological Diseases ◽  
The Common ◽  
Complex Relationships

Studying of the common links of pathogenesis of endocrine, autoimmune and oncological diseases is the area of interest of researchers from all countries of the world. Comprehension of artificially created mutual influences of molecular-genetic, immune factors that underlie the development and progression of endocrine tumors, primarily thyroid cancer, is important for creation and application of innovative treatment methods in oncoendocrinology.Today, the question of considering autoimmune diseases as a potential cause of oncological processes or on the contrary to consider them as protective conditions in some types of malignant tumors, remains controversial.In particular, autoimmune thyropathies and papillary thyroid cancer is an interesting model for studying these complex relationships. . The purpose of this article is to discuss accumulated experience, review the literature devoted to the study of immunological aspects in the pathogenesis of papillary thyroid cancer, reconsider obtained material and form a conclusion.

scholarly journals MON-439 Graves’ Disease and Papillary Thyroid Cancer: A Rare Clinical Case?

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Natalia Volkova ◽  
Ilia Davidenko ◽  
Irina Dzherieva ◽  
Alexander Zibarev ◽  
Lilia Ganenko ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Gland ◽  
Papillary Thyroid Cancer ◽  
Clinical Case ◽  
Diagnostic Methods ◽  
Suppressive Therapy ◽  
Graves Disease ◽  
Papillary Thyroid ◽  
Body Type ◽  
Target Values

Abstract Background: Nodules on the background of Graves’ disease are less common among men than among women, but more than one in three patients have carcinoma. Despite the improvement of diagnostic methods, most often thyroid cancer is a random histological finding after thyroidectomy for Graves’ disease. Clinical case: A 55-year women complained of discomfort in the neck, sweating, irritability, palpitation. From anamnesis: in 2012 she was diagnosed with thyrotoxicosis syndrome. For 5 years, the patient was treated with thyrostatics, but when trying to reduce the dose, the syndrome of thyrotoxicosis recurred. In March 2017, the patient’s condition worsened, at the time of treatment she took Thyrosol 30 mg/day. Objectively: hypersthenic body type, BMI 33 kg/m2. Thyroid gland visually was increased in volume, dense with palpation, homogeneous, mobile. Elevated titer of antibodies to the TSH receptor was discovered, according to the ultrasound - increase thyroid gland 30.2 cm3, hyperechogenic formation of the left lobe 10х10х9 mm with hypoechoic rim, clear smooth contours, intranodular blood flow. As a result, the Graves’ disease, goiter grade 2, manifest thyrotoxicosis was verified, surgical treatment was recommended. Thyroidectomy, histological examination was performed: Graves’ disease was confirmed, papillary microcarcinoma with metastasis to 1 regional lymph node was revealed. Diagnosed: papillary thyroid cancer I st (pT1aN1aM0x), 2 clinical group. The patient was prescribed suppressive therapy with L-thyroxine 100 µg/day, against which after 3 months TSH reached the target values (0.2–0.5 Mme/l). Taking into account the histological characteristics of the tumor, the nature and volume of the lesion, age, the patient belongs to the group of intermediate cancer risk of progression of cancer. According to scintigraphy residual functioning thyroid tissue (20x15 mm) was detected. Radioiodine therapy was carried out in a specialized hospital. Suppressive therapy of L-thyroxine 150 µg/day, target values of TSH 0.1 - 0.5 Mme/l was recommended. After 6 months, TSH reached target values, and according to the results of ultrasound of thyroid gland no data for structural relapse was found. Conclusion: Patients with long-existing, often recurrent Graves’ disease and questionable effect of conservative therapy, in the presence of nodular formation should be assigned to the risk group for the presence of thyroid cancer and carefully examined, because the need for further surgery depends on it.

scholarly journals Prognostic possibilities of molecular genetic testing for assessing the risk of recurrence of papillary thyroid cancer in children

2021 ◽  
Vol 67 (4) ◽  
pp. 511-517
Author(s):  
S Sergiiko ◽  
Sergei Lukianov ◽  
Sergey Titov ◽  
Iuliia Veriaskina ◽  
Anatolii Romanchishen ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Braf Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Papillary Thyroid ◽  
Clinical Criteria ◽  
Risk Of Death ◽  
New Criteria ◽  
Cancer In Children

The assessment of aggressiveness and risk of death in papillary thyroid cancer in children is currently based on clinical criteria. To ensure a more accurate risk stratification, new criteria and various molecular genetic markers are constantly being sought. The article studied the dependence of the clinical and pathological manifestations of papillary thyroid cancer in children on the level of expression of various microRNAs and the presence of the BRAF mutation. It was found that the BRAF mutation was present in 20.4% of cases, while the dependence of the clinical behavior of cancer on the BRAF mutation was not established. Of the 14 microRNAs studied, statistical differences were obtained for oncogenic miR-146b, -221, -31, and oncosuppressive miR-144, which correlated with signs such as extrathyroid tumor growth, multi-focus, and metastasis to the neck lymph nodes.

scholarly journals Are Bethesda III Thyroid Nodules More Aggressive than Bethesda IV Thyroid Nodules When Found to Be Malignant?

Cancers ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2563
Author(s):  
Sena Turkdogan ◽  
Marc Pusztaszeri ◽  
Veronique-Isabelle Forest ◽  
Michael P. Hier ◽  
Richard J. Payne
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Hospital Setting ◽  
Retrospective Chart Review ◽  
Tertiary Hospital ◽  
P Value ◽  
Papillary Thyroid ◽  
Genetic Test Results

The Bethesda classification system for thyroid fine needle aspirate (FNA) is used to predict the risk of malignancy and to guide the management of thyroid nodules. We postulated that thyroid malignancies characterized as Bethesda III on FNA have more aggressive features than those classified as Bethesda IV. A retrospective chart review was performed to identify those who underwent thyroid surgery at a single tertiary hospital setting between 2015 and 2020. Associations between Bethesda category, molecular genetic test results, and histopathologic findings were examined. Out of 628 surgeries that were performed, 199 (54.2%) Bethesda III nodules and 216 (82.8%) Bethesda IV nodules were malignant. Of those that were malignant, 37 (18.6%) and 22 (10.2%) Bethesda III and Bethesda IV nodules showed aggressive features, respectively (p value = 0.014). There was a proportionally increased number of aggressive features in extra-thyroidal extension, lymph nodes metastasis, and all aggressive subtypes of papillary thyroid cancer in the Bethesda III category. Although Bethesda IV nodules are much more likely to be malignant (p value = 0.002), our study suggests that Bethesda III nodules that are resected are more likely to have aggressive features than Bethesda IV nodules, with a statistically significant increase in the solid variant of papillary thyroid cancer and lymph node metastasis.

scholarly journals A Novel Adrenocorticotropin Receptor Mutation Alters Its Structure and Function, Causing Familial Glucocorticoid Deficiency

2008 ◽  
Vol 93 (8) ◽  
pp. 3097-3105 ◽  
Author(s):  
Rocío A. Artigas ◽  
Angel Gonzalez ◽  
Erick Riquelme ◽  
Cristian A. Carvajal ◽  
Andreína Cattani ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Case ◽  
Stop Codon ◽  
Transmembrane Helix ◽  
Premature Stop Codon ◽  
Autosomal Recessive Disorder ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Dynamic Simulations ◽  
Glucocorticoid Deficiency

Abstract Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by unresponsiveness to ACTH. In this study, two mutations of the ACTH receptor (MC2R) gene are reported in this FGD clinical case. Objective: The objective of the study was to characterize a novel MC2R gene mutation in a compound heterozygous patient with FGD phenotype. Design: This was a clinical case description, biochemical, molecular, and bioinformatics analysis to describe a novel MC2R gene mutation. Patients: The subject of the study was a male diagnosed with primary adrenal insufficiency. The family history showed nonconsanguineous healthy parents, three healthy siblings, and one brother affected with FGD. Main Outcome Measures: The mutant MC2R-Ala126Ser showed significantly lower activity when it was stimulated with ACTH-(1–24) than did cells transfected with wild-type MC2R. Results: The molecular studies demonstrated the presence of an adenine heterozygous insertion (InsA1347) in the MC2R gene (G217fs) in the patient. This insertion was due to a frame shift mutation in one allele and a premature stop codon codifying an aberrant receptor of 247 residues (27.2 kDa). We also found a novel heterozygous mutation alanine 126 by serine. Molecular dynamic simulations showed that serine 126 side chain fluctuates forming a noncanonical intrahelical hydrogen bond in the transmembrane helix 3 of the mutated receptor. This produces a structural rearrangement of the MC2R internal cavities that may affect the ligand recognition and signal transduction throughout the G protein. Conclusions: We propose a molecular explanation for the reduced activity exhibited by the MC2R alanine 126 by serine mutant.

scholarly journals STRUCTURE OF THE NODULAR GOITER IN CHILDREN

2015 ◽  
Vol 14 (5) ◽  
pp. 54-60
Author(s):  
O. S. Rogova ◽  
L. N. Samsonovа ◽  
G. F. Okminyan
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Multinodular Goiter ◽  
Morphological Structure ◽  
Nodular Goiter ◽  
Thyroid Adenoma ◽  
Papillary Thyroid ◽  
Single Node ◽  
Treatment And Prevention ◽  
Functional Autonomy

For today the question of early diagnosis of nosological variants, the method of treatment and prevention of nodular goiter in children is still not fully resolved. There is a few available literature data about study of this problem in children. Objective: to study morphofunctional structure of thyroid nodules in children.The article provides information consisting of the results of a retrospective analysis of case histories of 73 patients, operated with nodular goiter in Z.A. Bashlyaeva Children’sCityClinicalHospital(Moscow) from 2003 to May 2015. The examination included an evaluation of the functional status of the pituitary-thyroid system: there were investigated serum thyroxine, triiodothyronine and thyroid stimulating hor-mone, also was performed thyroid scintigraphy 99mТc. In the postoperative period, there was carried out a final verification of the diagnosis according to the results of the histological conclusion. The histologi-cal type of nodal disease was defined by the WHO classification of 2004. It was established that in the structure of a single-node goiter in children prevail nodular colloid goiter with equal frequency in boys and girls, with the same frequency occurs thyroid adenoma, but more often in girls than in boys. The multinodular goiter equally often detected in girls and boys both nodular goiter colloidal with varying degree of proliferation and colloid in combination with follicular thyroid adenoma. "Hot" nodes in the multinodular goiter are more common than in the single-node goiter and more fre-quently in girls than in boys. The half of children with nodular pathology have "hot" nodes and one out of every three – decompensated form of functional autonomy. Decompensated form of functional autonomy of the thyroid gland in children with "hot" nodes detects regardless of the number of nodes. Papillary thyroid cancer occurs not only in patients with a single-node, but with a multinodular goiter. The results allow to draw conclusions about the heterogeneity of the morphological structure as a single-node and multinodular goiter in children, including papillary thyroid cancer. 

Sign in / Sign up

Export Citation Format

Share Document