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Problemy Endokrinologii Oct 2023DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a... (Review)
Review
DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations - multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non-endocrine formations - pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.
Topics: Humans; Ribonuclease III; DEAD-box RNA Helicases; Mutation; Female; Thyroid Neoplasms; Goiter, Nodular; Pulmonary Blastoma
PubMed: 38796764
DOI: 10.14341/probl13383 -
Cancers May 2024We aimed to analyze the management of the ectopic mediastinal thyroid (EMT) with respect to EMT-related cancer and non-malignant findings related to the pathological... (Review)
Review
We aimed to analyze the management of the ectopic mediastinal thyroid (EMT) with respect to EMT-related cancer and non-malignant findings related to the pathological report, clinical presentation, imaging traits, endocrine profile, connective tissue to the cervical (eutopic) thyroid gland, biopsy or fine needle aspiration (FNA) results, surgical techniques and post-operatory outcome. This was a comprehensive review based on revising any type of freely PubMed-accessible English, full-length original papers including the keywords "ectopic thyroid" and "mediastinum" from inception until March 2024. We included 89 original articles that specified EMTs data. We classified them into four main groups: (I) studies/case series (n = 10; N = 36 EMT patients); (II) malignant EMTs (N = 22 subjects; except for one newborn with immature teratoma in the EMT, only adults were reported; mean age of 62.94 years; ranges: 34 to 90 years; female to male ratio of 0.9). Histological analysis in adults showed the following: papillary (N = 11/21); follicular variant of the papillary type (N = 2/21); Hürthle cell thyroid follicular malignancy (N = 1/21); poorly differentiated (N = 1/21); anaplastic (N = 2/21); medullary (N = 1/21); lymphoma (N = 2/21); and MALT (mucosa-associated lymphoid tissue) (N = 1/21); (III) benign EMTs with no thyroid anomalies (N = 37 subjects; mean age of 56.32 years; ranges: 30 to 80 years; female to male ratio of 1.8); (IV) benign EMTs with thyroid anomalies (N = 23; female to male ratio of 5.6; average age of 52.1 years). This panel involved clinical/subclinical hypothyroidism (iatrogenic, congenital, thyroiditis-induced, and transitory type upon EMT removal); thyrotoxicosis (including autonomous activity in EMTs that suppressed eutopic gland); autoimmune thyroiditis/Graves's disease; nodules/multinodular goiter and cancer in eutopic thyroid or prior thyroidectomy (before EMT detection). We propose a 10-item algorithm that might help navigate through the EMT domain. To conclude, across this focused-sample analysis (to our knowledge, the largest of its kind) of EMTs, the EMT clinical index of suspicion remains low; a higher rate of cancer is reported than prior data (18.8%), incident imagery-based detection was found in 10-14% of the EMTs; surgery offered an overall good outcome. A wide range of imagery, biopsy/FNA and surgical procedures is part of an otherwise complex personalized management.
PubMed: 38791947
DOI: 10.3390/cancers16101868 -
Nucleosides, Nucleotides & Nucleic Acids May 2024Several studies showed that adipokines are associated with types of cancer which are documented to be effective in cancer biology. This study aimed to determine the...
Several studies showed that adipokines are associated with types of cancer which are documented to be effective in cancer biology. This study aimed to determine the relationship between vaspin rs2236242 polymorphism and the vaspin level with papillary thyroid carcinoma (PTC), and multinodular goiter (MNG). In this cross-sectional study, we recruited 170 candidates. Ninety patients with newly diagnosed (PTC 60 patients and MNG 30 patients), and 80 participants as a control group referred to Shariati Hospital, Tehran, Iran, were enrolled in the study. The vaspin hormone measurements were conducted utilizing the Elisa Kit. Using Tetra amplification resistant-mutation system polymerase chain reaction (T-ARMS-PCR), the genotype of single nucleotide polymorphism (SNP) rs2236242 was determined. The statistical analysis was performed using SPSS software version 20. Our findings showed significant age and genotype frequency differences in three groups (-value < 0.05). There was no significant difference in vaspin levels between PTC, and control groups. The level of vaspin in MNG compared to the control group had significantly different, but there were no differences after adjustment for age. Results showed the genotypes of vaspin rs2236242 polymorphism are not associated with the level of vaspin. The genotypes and allele frequencies of vaspin rs2236242 in the PTC and MNG groups were significant compared to the control group. We have found vaspin rs2236242 gene polymorphism as a potential marker of papillary thyroid cancer. The A allele of the vaspin SNP rs2236242 plays a protective role against PTC and MNG. SNP at rs2236242 was not significantly associated with vaspin levels.
PubMed: 38781583
DOI: 10.1080/15257770.2024.2354427 -
The Gulf Journal of Oncology May 2024rhTSH-assisted radioiodine therapy of multinodular goiter is not fully known and only a few studies, with a limited number of patients have evaluated the effect of rhTSH...
Establishing and Monitoring an Effective Management of Benign Nontoxic Multinodular Goitre in Kuwait "Utilizing Two Different Dose Levels of Recombinant Human TSH in Combination with Radioactive Iodine".
INTRODUCTION
rhTSH-assisted radioiodine therapy of multinodular goiter is not fully known and only a few studies, with a limited number of patients have evaluated the effect of rhTSH assisted radioiodine therapy beyond 1 year. Though there is an effective and safe management of benign non-toxic MNG available, it is not applicable to all patient categories in Kuwait covering the impact of the past environmental events (Gulf War) and the genetic relation. The proposed project aims to address those points raised, that is exclusive to the Kuwait population.
MATERIALS AND METHODS
In this cohort study, 2 groups of patients, group one (G1) and group two (G2) patients (N=50, ≥18 years old) went undergo evaluated according to a proposed criteria followed by FNA to exclude cancer, toxicity and those who have refused surgery. All patients had a CT scan, TSH, T3, T4 and CBC and complete biomedical tests at a 6-months interval during the treatment period and the follow up. The Volumetric application of GE 670 SPECT/CT (i.e. Xeleris) and in-house developed MATLAB used for quantitative measurement. All patients had a 131-I uptake at baseline and 24 intervals post intramuscular a single dose of 0.3mg or 0.1mg (group 1, group 2) of rhTSH.
RESULTS
There was no significant difference in TSH levels at 24-month follow-up between the two groups (p=0.327), whereas there was a statistically significant difference at the baseline and at the 6-months interval between the 2 groups for T4. Post treatment follow up at the 24-hour time point, Group 1 displayed significantly higher uptake than Group 2 (G1:41.74 ± 6.27 vs. G2:34.80 ± 3.84, p < 0.001). The change in I131 uptake from baseline to 24 hours was significantly greater in Group 1compared to Group 2 (p < 0.001). The ROC analysis (AUC) post treatment indicated an excellent discriminatory power for AUC (0.960) and (p < 0.001). There was a much better correlation posttreatment between BMI and thyroid volume for group 1 (R2=0.661) than for group 2 (R2=0.008). Our results suggest 42.1% thyroid volume reduction for group 1 and 20% for group 2.
CONCLUSION
The study underscores the potential benefits of the higher rhTSH dose (0.3mg) in managing multinodular non-toxic goiter for the Kuwaiti population and the region considering the impact of dietary, and experience to the drastic environmental exposure.
Topics: Humans; Male; Kuwait; Iodine Radioisotopes; Female; Goiter, Nodular; Middle Aged; Adult; Thyrotropin; Recombinant Proteins
PubMed: 38774933
DOI: No ID Found -
Cureus Apr 2024Total thyroidectomy is evolving as the choice of treatment for non-malignant thyroid conditions. Therefore, an ideal method of thyroxine replacement is necessary to...
INTRODUCTION
Total thyroidectomy is evolving as the choice of treatment for non-malignant thyroid conditions. Therefore, an ideal method of thyroxine replacement is necessary to avoid the ill effects of under- and over-replacement in such patients.
AIM
To assess the correlation between optimal thyroxine dose and potential variables like lean body mass (LBM), body surface area (BSA), body mass index (BMI), body weight, age, and sex in patients who underwent total thyroidectomies for benign multinodular goiters in our institute.
MATERIALS AND METHODS
A longitudinal cohort study was undertaken at the Government Medical College Thrissur, a tertiary care provider in India, between October 2018 and September 2019. One hundred adult patients who underwent a total thyroidectomy for various benign thyroid conditions were included. They were initially given thyroxine 75 µg upon discharge and received follow-up doses every two months until they achieved euthyroid status on two consecutive visits. The variables evaluated at this stage included age, sex, actual body weight, lean body weight, BMI, and biochemical data (triiodothyronine (T3), thyroxine (T4), thyroid-stimulating hormone (TSH)). Correlation, multiple step-wise regression, and variance were carried out using EPI INFO version 7.2.2.6.
RESULTS
The best predictors for optimum thyroxine dose were BSA (0.923, P < 0.01) and LBM (0.921, P < 0.01), compared with body weight (0.833, P < 0.01) and BMI (0.523, P < 0.01). In our study, the least significant factor was the age of the patient (r = 0.117, P < 0.01). There was no significant association between gender and thyroxine dose. The mean thyroxine dose was 1.87 µg/kg of the patient's body weight.
CONCLUSION
The optimum thyroxine replacement based on BSA or LBM is a more ideal method than based on BMI or body weight alone.
PubMed: 38765445
DOI: 10.7759/cureus.58430 -
Journal of Medicine and Life Jan 2024The latest edition of the WHO Classification of thyroid tumors was released in 2022 and incorporates novel concepts vital to patient management. Thyroid follicular...
The latest edition of the WHO Classification of thyroid tumors was released in 2022 and incorporates novel concepts vital to patient management. Thyroid follicular nodular disease is a term used to collectively represent a wide variety of benign and non-neoplastic lesions, including both clonal and non-clonal proliferations that manifest clinically as multinodular goiter. Thyroid neoplasms develop from follicular cells and can be either benign, low-risk, or malignant. To avoid classifying all lesions under 1 cm in diameter as low-risk illnesses, the new classification method highlights the need for subtyping papillary thyroid cancer based on histomorphologic indicators rather than tumor size. Formerly known as the cribriform-morular variety of papillary thyroid carcinoma, this tumor is now more commonly referred to by its more accurate name, cribriform-morular thyroid carcinoma. Its histogenesis is unknown. Similar to the traditional definition of 'poorly differentiated thyroid carcinoma' according to the Turin criteria, the newly defined 'differentiated high-grade thyroid carcinoma' encompasses papillary thyroid cancer, follicular thyroid carcinomas, and oncocytic carcinomas with high-grade characteristics linked to worse prognosis. The squamous cell subtype of anaplastic thyroid cancer has also recently been characterized as a distinct morphologic pattern. In this article, we will discuss the latest revision to the World Health Organization's classification system for thyroid cancer.
Topics: Humans; Adenocarcinoma, Follicular; Thyroid Neoplasms; World Health Organization
PubMed: 38737660
DOI: 10.25122/jml-2023-0270 -
Endocrinologia, Diabetes Y Nutricion Apr 2024Thyrotoxicosis is the clinical condition resulting from an excess of thyroid hormones for any reason. The main causes are Graves-Basedow disease, toxic multinodular... (Review)
Review
Thyrotoxicosis is the clinical condition resulting from an excess of thyroid hormones for any reason. The main causes are Graves-Basedow disease, toxic multinodular goitre and toxic adenoma. The medical treatment to control thyroid function includes antithyroid drugs, beta blockers, iodine solutions, corticosteroids and cholestyramine. Although therapeutic plasma exchange is not generally part of the therapy, it is an alternative as a preliminary stage before the definitive treatment. This procedure makes it possible to eliminate T4, T3, TSI, cytokines and amiodarone. In most cases, more than one cycle is necessary, either daily or every three days, until clinical improvement is observed. The effect on thyrotoxicosis is temporary, with an approximate duration of 24-48h. This approach has been proposed as a safe and effective alternative when the medical treatment is contraindicated or not effective, and when there is multiple organ failure or emergency surgery is required.
Topics: Humans; Thyrotoxicosis; Plasma Exchange; Female; Middle Aged; Male
PubMed: 38735679
DOI: 10.1016/j.endien.2024.01.009 -
Diagnostics (Basel, Switzerland) Apr 2024(1) Background: After thyroid malignancy is ruled out, treatment options for multinodular goiter patients include surgery, levothyroxine suppressive therapy, and 131-I...
(1) Background: After thyroid malignancy is ruled out, treatment options for multinodular goiter patients include surgery, levothyroxine suppressive therapy, and 131-I therapy. Surgery effectively reduces goiter size but carries risks of surgical and anesthetic complications. 131-I therapy is the only nonsurgical alternative, but its effectiveness diminishes with goiter size and depends on iodine sufficiency. This study aimed to assess the efficacy and safety of 0.1 mg rhTSH as an adjuvant to a fixed dose of 131-I therapy in patients with a recurrence of large multinodular goiter, several years after the initial thyroidectomy. (2) Methods: 14 patients (13 females and 1 male), aged 59.14 ± 15.44 (range, 35-78 years) received 11mciu of 131-I, 24 h after the administration of 0.1 mg rhTSH. The primary endpoint was the change in thyroid volume (by ultrasound measurements) as well as in the diameter of the predominant nodule during a follow-up period of 10 years. Secondary endpoints were the alterations in thyroid function and potential adverse effects. (3) Results: A significant decrease in the volume of initial thyroid remnants (32.16 ± 16.66 mL) was observed from the first reevaluation (at 4 months, 23.12 ± 11.59 mL) as well as at the end of the follow-up period (10 years, 12.62 ± 8.76 mL), < 0.01. A significant reduction in the dominant nodule was also observed (from 31.71 ± 10.46 mm in the beginning to 26.67 ± 11.05 mm). (4) Conclusions: Further investigation is needed since this approach could be attractive in terms of minimizing the potential risks of reoperation in these patients.
PubMed: 38732360
DOI: 10.3390/diagnostics14090946 -
Cureus Apr 2024Lipoid lesions of the thyroid gland are very rare. Fat-containing thyroid lesions include a variety of clinical-pathological disorders, such as adenolipomas,...
Lipoid lesions of the thyroid gland are very rare. Fat-containing thyroid lesions include a variety of clinical-pathological disorders, such as adenolipomas, thyrolipomatosis, and lipomatous tissue, in the event of amyloidosis. Herein, we report a case of diffuse thyrolipomatosis with amyloidosis and incidentally detected papillary carcinoma of the thyroid in a 51-year-old female patient who clinically presented with a multinodular goiter. Amyloidosis in papillary carcinoma of the thyroid is very rare and can be primary or secondary amyloidosis. Thyrolipomatosis, amyloid goiter, and papillary carcinoma of the thyroid is a rare combination, and to our knowledge, this is the third reported case in the literature. The association of amyloidosis and the rare occurrence of a differentiated carcinoma have to be considered, as in the case of thyroid lipomatosis.
PubMed: 38725741
DOI: 10.7759/cureus.57896 -
Nature Genetics May 2024Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland...
Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.1. Follow-up analyses with whole-genome sequencing and genetic screening in congenital hypothyroidism and MNG cohorts showed that changes in a noncoding TTTG microsatellite on 15q26.1 were frequently observed in congenital hypothyroidism (137 in 989) and MNG (3 in 33) compared with controls (3 in 38,722). Characterization of the noncoding variants with epigenomic data and in vitro experiments suggested that the microsatellite is located in a thyroid-specific transcriptional repressor, and its activity is disrupted by the variants. Collectively, we presented genetic evidence linking nongoitrous congenital hypothyroidism and MNG, providing unique insights into thyroid abnormalities.
Topics: Humans; Congenital Hypothyroidism; Microsatellite Repeats; Female; Male; Chromosomes, Human, Pair 15; Pedigree; Goiter, Nodular; Adult; Thyroid Gland; Genetic Linkage
PubMed: 38714868
DOI: 10.1038/s41588-024-01735-5