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Journal of Family & Community Medicine 2024Multinodular goiter (MNG) is a chronic benign nodular enlargement of the thyroid gland. It presents as an anterior painless neck mass, potentially progressing to exert...
Multinodular goiter (MNG) is a chronic benign nodular enlargement of the thyroid gland. It presents as an anterior painless neck mass, potentially progressing to exert pressure on the trachea and esophagus and giving rise to compressive symptoms. MNG is a common thyroid gland disorder; however, retropharyngeal goiter is considered rare with few reported cases. We report the cases of two patients who presented to our institution with MNG with retropharyngeal extension: a 62-year-old female patient who presented with a progressive anterior neck mass with dilated neck veins; and a 49-year-old male who presented with a painless anterior neck mass. Both patients successfully underwent total thyroidectomy with an uneventful postoperative recovery. The clinical presentation of MNG with retropharyngeal extension varies with patients; hence, a high index of suspicion is of the utmost significance. While the retropharyngeal extension does not cause compressive symptoms, it should raise the suspicion of a large retrosternal component.
PubMed: 38800791
DOI: 10.4103/jfcm.jfcm_263_23 -
JAMA Jan 2011Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease....
CONTEXT
Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in families affected by pleuropulmonary blastoma (PPB), some of whom include cases of MNG and gonadal tumors such as SLCTs.
OBJECTIVE
To determine whether familial MNG with or without SLCT in the absence of PPB was associated with mutations in DICER1.
DESIGN, SETTING, AND PATIENTS
From September 2009 to September 2010, we screened 53 individuals from 2 MNG and 3 MNG/SLCT families at McGill University for mutations in DICER1. We investigated blood lymphocytes and MNG and SLCT tissue from family members for loss of the wild-type DICER1 allele (loss of heterozygosity), DICER1 expression, and microRNA (miRNA) dysregulation.
MAIN OUTCOME MEASURE
Detection of germline DICER1 gene mutations in familial MNG with and without SLCT.
RESULTS
We identified and characterized germline DICER1 mutations in 37 individuals from 5 families. Two mutations were predicted to be protein truncating, 2 resulted in in-frame deletions, and 1 was a missense mutation. Molecular analysis of the 3 SLCTs showed no loss of heterozygosity of DICER1, and immunohistochemical analysis in 2 samples showed strong expression of DICER1 in Sertoli cells but weak staining of Leydig cells. miRNA profiling of RNA from lymphoblastoid cell lines from both affected and unaffected members of the familial MNG cases revealed miRNA perturbations in DICER1 mutation carriers.
CONCLUSIONS
DICER1 mutations are associated with both familial MNG and MNG with SLCT, independent of PPB. These germline DICER1 mutations are associated with dysregulation of miRNA expression patterns.
Topics: Adolescent; Adult; Child; DEAD-box RNA Helicases; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Goiter, Nodular; Humans; Male; MicroRNAs; Mutation, Missense; Ovarian Neoplasms; Pulmonary Blastoma; Ribonuclease III; Sertoli-Leydig Cell Tumor; Young Adult
PubMed: 21205968
DOI: 10.1001/jama.2010.1910 -
BMC Surgery 2012Thyroid disease is common in the elderly population. The incidence of hypothyroidism and multinodular goitre gradually increases with age. In view of a growth of aging... (Review)
Review
BACKGROUND
Thyroid disease is common in the elderly population. The incidence of hypothyroidism and multinodular goitre gradually increases with age. In view of a growth of aging population, we performed a literature review about the feasibility of thyroid surgery in the elderly.
METHODS
We conducted a literature search in the PubMed database in September 2012 and all English-language publications on thyroidectomy in geriatric patients since 2002 were retrieved. The potential original articles mainly focusing on thyroidectomy in elderly patients were all identified and full texts were obtained and reviewed for further hand data retrieving.
RESULTS
We retrieved five papers based on different primary end-point. Four were retrospective non randomized studies and one was prospective non randomized study. At last 65, 70, 75 and 80 years were used as an age cut-off. All studies evaluate the indications of thyroidectomy in geriatric patients, postoperative morbility and mortality. Only one study specifically assesses the rate of the rehospitalization after thyroidectomy among the elderly.
CONCLUSIONS
Thyroid nodules are particularly important in elderly patients, as the incidence of malignancy increases and they are usually more aggressive tumors. An age of at least 70 years is an independent risk factor for complications after general surgery procedures. Thyroid surgery in patients aged 70 years or older is safe and the relatively high rate of thyroid carcinoma and toxic goiter may justify an aggressive approach. A programmed operation with a careful pre-operative evaluation and a risk stratification should make the surgical procedures less hazardous, specially in 80 years old patients with an high ASA score.
Topics: Age Factors; Aged; Aged, 80 and over; Goiter; Humans; Postoperative Complications; Risk Factors; Thyroid Diseases; Thyroid Neoplasms; Thyroidectomy; Treatment Outcome
PubMed: 23173919
DOI: 10.1186/1471-2482-12-S1-S16 -
Scientific Reports Sep 2022DICER1 syndrome is caused by germline pathogenic mutations in the DICER1 gene. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and...
DICER1 syndrome is caused by germline pathogenic mutations in the DICER1 gene. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults. The aim of this study was to determine the ultrasound (US) characteristics of MNG in patients with DICER1 syndrome. This retrospective study evaluated thyroid US in patients with DICER1 germline mutations (DICER1mut+) performed between 2011 and 2018 at a single center by the same pediatric endocrinologist, and the images were re-examined by an independent pediatric radiologist from another academic center. Patients < 18 years with DICER1mut+ and DICER1mut+ parents without previous thyroidectomy were included. Ultrasound phenotypes of MNG in the setting of DICER1 mutations were compared with known US features of thyroid malignancy. Thirteen DICER1mut+ patients were identified (10 children, 3 adults). Three children had a normal thyroid US; therefore, thyroid abnormalities were assessed in seven children and three adults. In both children and adults, multiple (≥ 3) mixed (cystic/solid) nodules predominated with single cystic, single cystic septated and single solid nodules, occasionally with a "spoke-like" presentation. All solid lesions were isoechogenic, and in only one with multiple solid nodules, intranodular blood flow on power/color Doppler was observed. Remarkably, macrocalcifications were present in all three adults. The spectrum of ultrasonographic findings of MNG in DICER1mut+ patients is characteristic and largely distinct from typical features of thyroid malignancy and therefore should inform physicians performing thyroid US of the possible presence of underlying DICER1 syndrome.
Topics: DEAD-box RNA Helicases; Goiter, Nodular; Humans; Neoplastic Syndromes, Hereditary; Retrospective Studies; Ribonuclease III; Thyroid Neoplasms; Thyroidectomy
PubMed: 36151231
DOI: 10.1038/s41598-022-19709-0 -
International Journal of Surgery Case... Jun 2022Thymoma is a rare neoplasm, which may be associated with autoimmune disorders, the occurrence of hyperthyroidism in the patients with thymoma is rare.
BACKGROUND
Thymoma is a rare neoplasm, which may be associated with autoimmune disorders, the occurrence of hyperthyroidism in the patients with thymoma is rare.
CLINICAL PRESENTATION
Here we present an extremely rare case of a 56-year-old female patient who was discovered to have malignant thymoma with associated myasthenia gravis and hyperthyroidism due to toxic multinodular goiter. Our patient started to complain of difficulty breathing and swallowing, Chest CT scan was done and revealed an anterior mediastinal mass, measures about 4.1 × 3.1 × 2.2 cm with enlarged lymph node mostly representing thymoma. Complete thymectomy was performed via uniportal video-assisted thoracoscopic surgery, and the patient's postoperative recovery was uneventful. Microscopic histopathology findings corresponded to thymoma type B1.
CONCLUSION
The coexistence of thymoma, MG and toxic multinodular goiter is extremely rare. MG should always be suspected in a patient with thymoma. VATS thymectomy has been increasingly used to treat thymoma as it has several advantages over open surgery.
PubMed: 35594786
DOI: 10.1016/j.ijscr.2022.107183 -
Familial Cancer Oct 2023DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages....
DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding uncommon phenotypes complicate the diagnosis and can negatively impact patient care. We present two unrelated patients suspected to have DICER1 syndrome. Both females (aged 13 and 15 years) presented with multinodular goiter (thyroid follicular nodular disease) and ovarian tumours. One was diagnosed with an ovarian Sertoli-Leydig cell tumour (SLCT) and the other, with an ovarian juvenile granulosa cell tumour, later reclassified as a retiform variant of SLCT. Genetic screening showed no germline pathogenic variants in DICER1. However, two potentially splicing variants were found, DICER1 c.5365-4A>G and c.5527+3A>G. Also, typical somatic DICER1 RNase IIIb hotspot mutations were detected in the thyroid and ovarian tissues. In silico splicing algorithms predicted altered splicing for both germline variants and skipping of exon 25 was confirmed by RNA assays for both variants. The reclassification of the ovarian tumour, leading to recognition of the association with DICER1 syndrome and the characterization of the germline intronic variants were all applied to recently described DICER1 variant classification rules. This ultimately resulted in confirmation of DICER1 syndrome in the two teenage girls.
Topics: Male; Female; Adolescent; Humans; Sertoli-Leydig Cell Tumor; Germ-Line Mutation; Ovarian Neoplasms; Thyroid Gland; Ribonuclease III; Neoplastic Syndromes, Hereditary; Germ Cells; Mutation; DEAD-box RNA Helicases
PubMed: 37248399
DOI: 10.1007/s10689-023-00336-1 -
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 -
Current Oncology (Toronto, Ont.) Jun 2019syndrome is an autosomal dominant tumour predisposition syndrome associated with a wide variety of cancerous and noncancerous conditions, including ovarian sex...
BACKGROUND
syndrome is an autosomal dominant tumour predisposition syndrome associated with a wide variety of cancerous and noncancerous conditions, including ovarian sex cord-stromal tumours and thyroid conditions, including multinodular goiter. The most common ovarian sex cord-stromal tumour associated with syndrome is Sertoli-Leydig cell tumour, with germline mutations present in more than 50% of cases. We present a case in which a patient in her late 30s was diagnosed with a Sertoli-Leydig cell tumour in the background of a strong family history of multinodular goiter and Sertoli-Leydig cell tumour with a germline mutation in .
CASE PRESENTATION
A 38-year-old woman with history of multinodular goiter was found to have stage iiic ovarian Sertoli-Leydig cell cancer after presenting with abdominal pain. She underwent multiple surgeries and chemotherapy. The patient developed rapid disease progression and died 7 months after diagnosis. Seven years earlier, a daughter had experienced the same disease and was found to have a germline mutation. The mother had not undergone testing before her own diagnosis.
SUMMARY
The co-occurrence of Sertoli-Leydig cell tumour and multinodular goiter is highly suggestive of syndrome. The recognition of syndrome within a family is essential for increased awareness and potential early recognition of complications. Most conditions associated with syndrome occur in childhood, and most of the current screening recommendations are specific for childhood and young adulthood. Cancer risks and findings for the adult population are not as well defined. Clinicians who encounter syndrome should review recommendations for genetic testing and surveillance and enrol patients in the registry.
Topics: Adult; DEAD-box RNA Helicases; Female; Goiter; Humans; Mutation; Ovarian Neoplasms; Ribonuclease III; Sertoli-Leydig Cell Tumor; Syndrome
PubMed: 31285663
DOI: 10.3747/co.26.4727 -
International Journal of Endocrinology 2017Thyroid nodules are a common clinical problem worldwide. Although thyroid cancer accounts for a small percentage of thyroid nodules, the majority are benign....
Thyroid nodules are a common clinical problem worldwide. Although thyroid cancer accounts for a small percentage of thyroid nodules, the majority are benign. 8-Hydroxy-2'-deoxyguanosine (8-OHdG) levels are a marker of oxidative stress and play a key role in the initiation and development of a range of diseases and cancer types. This study evaluates cytokinesis-block micronucleus cytome (CBMN-cyt) assay parameters and plasma 8-OHdG levels and their association with thyroid nodule size and thyroid hormones in patients with multinodular goiter. The study included 32 patients with multinodular goiter and 18 age- and sex-matched healthy controls. CBMN-cyt assay parameters in peripheral blood lymphocytes of patients with multinodular goiter and controls were evaluated, and plasma 8-OHdG levels were measured. The micronucleus (MN) frequency (chromosomal DNA damage), apoptotic and necrotic cells (cytotoxicity), and plasma 8-OHdG levels (oxidative DNA damage) were significantly higher among patients with multinodular goiter. Our study is the first report of increased chromosomal and oxidative DNA damage in patients with multinodular goiter, which may predict an increased risk of thyroid cancer in these patients. MN frequency and plasma 8-OHdG levels may be markers of the carcinogenic potential of multinodular goiters and could be used for early detection of different cancer types, including thyroid cancer.
PubMed: 28373882
DOI: 10.1155/2017/2907281 -
Il Giornale Di Chirurgia 2017Thyroid hemiagenesis is a rare congenital abnormality in which one of the thyroid lobes is not developed. It can be associated with various thyroid diseases, such as...
Thyroid hemiagenesis is a rare congenital abnormality in which one of the thyroid lobes is not developed. It can be associated with various thyroid diseases, such as Grave's disease, nodular goiter and thyroid neoplasm, rarely with hyperparathyroidism. We report a case of a 50-year old woman with left thyroid lobe agenesis diagnosed by ultrasonography and scintigraphy. Right thyroidectomy was performed and the histopathological examination showed diffuse hyperplasia, multinodular goiter and Hashimoto's thyroiditis. To our knowledge, this is the first description of multinodular goiter and Hashimoto's thyroiditis in a patient with thyroid hemiagenesis.
Topics: Female; Goiter, Nodular; Hashimoto Disease; Humans; Incidental Findings; Middle Aged; Thyroid Gland
PubMed: 29442060
DOI: 10.11138/gchir/2017.38.6.291