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European Journal of Histochemistry : EJH Mar 2023Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. However, it is very difficult to distinguish PTC from benign carcinoma. Thus, specific...
Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. However, it is very difficult to distinguish PTC from benign carcinoma. Thus, specific diagnostic biomarkers are actively pursued. Previous studies observed that Nrf2 was highly expressed in PTC. Based on this research, we hypothesized that Nrf2 may serve as a novel specific diagnostic biomarker. A single-center retrospective study, including 60 patients with PTC and 60 patients with nodular goiter, who underwent thyroidectomy at the Central Theater General Hospital from 2018 to July 2020, was conducted. The clinical data of the patients were collected. Nrf2, BRAF V600E, CK-19, and Gal-3 proteins were compared from paraffin samples of the patients. Through this study, we obtained the following results: i) Nrf2 exhibits high abundance expression in PTC, but not in adjacent to PTC and nodular goiter; increased Nrf2 expression could serve as a valuable biomarker for PTC diagnosis; the sensitivity and specificity for the diagnosis of PTC were 96.70% and 89.40%, respectively. ii) Nrf2 also shows higher expression in PTC with lymph node metastasis, but not adjacent to PTC and nodular goiter, thus the increased Nrf2 expression might serve as a valuable predictor for lymph node metastasis in PTC patients; the sensitivity and specificity for the prediction in lymph node metastasis were 96.00% and 88.57%, respectively; excellent diagnostic agreements were found between Nrf2 and other routine parameters including HO-1, NQO1 and BRAF V600E. iii) The downstream molecular expression of Nrf2 including HO-1 and NQO1 consistently increased. In conclusion, Nrf2 displays a high abundance expression in human PTC, which leads to the higher expression of downstream transcriptional proteins: HO-1 and NQO1. Moreover, Nrf2 can be used as an extra biomarker for differential diagnosis of PTC and a predictive biomarker for lymph node metastasis of PTC.
Topics: Humans; Thyroid Cancer, Papillary; NF-E2-Related Factor 2; Retrospective Studies; Goiter, Nodular; Lymphatic Metastasis; Proto-Oncogene Proteins B-raf; Carcinoma, Papillary; Thyroid Neoplasms
PubMed: 36951264
DOI: 10.4081/ejh.2023.3622 -
Modern Pathology : An Official Journal... Apr 2011Thyroid carcinomas can be sporadic or familial. Familial syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C... (Review)
Review
Thyroid carcinomas can be sporadic or familial. Familial syndromes are classified into familial medullary thyroid carcinoma (FMTC), derived from calcitonin-producing C cells, and familial non-medullary thyroid carcinoma, derived from follicular cells. The familial form of medullary thyroid carcinoma (MTC) is usually a component of multiple endocrine neoplasia (MEN) IIA or IIB, or presents as pure FMTC syndrome. The histopathological features of tumors in patients with MEN syndromes are similar to those of sporadic tumors, with the exception of bilaterality and multiplicity of tumors. The genetic events in the familial C-cell-derived tumors are well known, and genotype-phenotype correlations well established. In contrast, the case for a familial predisposition of non-medullary thyroid carcinoma is only now beginning to emerge. Although, the majority of papillary and follicular thyroid carcinomas are sporadic, the familial forms are rare and can be divided into two groups. The first includes familial syndromes characterized by a predominance of non-thyroidal tumors, such as familial adenomatous polyposis and PTEN-hamartoma tumor syndrome, within others. The second group includes familial syndromes characterized by predominance of papillary thyroid carcinoma (PTC), such as pure familial PTC (fPTC), fPTC associated with papillary renal cell carcinoma, and fPTC with multinodular goiter. Some characteristic morphologic findings should alert the pathologist of a possible familial cancer syndrome, which may lead to further molecular genetics evaluation.
Topics: Adenocarcinoma, Follicular; Adenomatous Polyposis Coli; Carcinoma; Carcinoma, Medullary; Carcinoma, Papillary, Follicular; Carcinoma, Renal Cell; Female; Genetic Predisposition to Disease; Goiter, Nodular; Hamartoma Syndrome, Multiple; Humans; Kidney Neoplasms; Male; Multiple Endocrine Neoplasia; Multiple Endocrine Neoplasia Type 2a; Neoplastic Syndromes, Hereditary; Thyroid Neoplasms
PubMed: 21455198
DOI: 10.1038/modpathol.2010.147 -
BMC Surgery 2013Amyloidosis is a systemic disease characterized by the extracellular deposition of amyloid fibrils in different organs and tissues. The thyroid gland may be affected by... (Review)
Review
BACKGROUND
Amyloidosis is a systemic disease characterized by the extracellular deposition of amyloid fibrils in different organs and tissues. The thyroid gland may be affected by diffuse or nodular amyloid deposits, along with multiple myeloma (MM) (Amyloid Light-Chain Amyloidosis, AL amyloidosis) or chronic inflammatory diseases (Amyloid A Amyloidosis, AA amyloidosis), but thyroid gland involvement rarely appears as the first clinical manifestation in both conditions. The present study reports a case of primary thyroidal nodular amyloid goiter diagnosed by fine-needle cytology (FNC) in an elderly patient.
CASE REPORT
A 66-year-old female patient presented with dysphagia and hoarseness; the patient suffered from rheumatoid arthritis but did not have kidney failure or altered thyroid function. Ultrasound examination (US) showed a 30 mm irregular, hypoechoic area in the left thyroid lobe. FNC showed abundant, dense and amorphous material similar to the one stained in purple at Diff-Quik stain and pinkish at the Papanicolaou. Spindle cells with thin, bland and bent nuclei were scattered in this material; few thyroid follicular cells were also present. An alcohol-fixed smear was stained with Congo red: the amyloid material appeared cherry red and it also showed apple-green birefringence when observed with a polarizing microscope. A differential diagnosis between different thyroid pathologies was considered and the cytological diagnosis of nodular amyloid goiter was pointed out. The patient underwent thyroid lobectomy and the subsequent histological examination confirmed the cytological diagnosis.
CONCLUSIONS
FNC is a safe and effective procedure for the diagnosis of thyroid amyloidosis. Congo red-stained smears can be used to demonstrate the presence of amyloid material, showing the typical green birefringence under polarized light. An early and accurate cytological diagnosis may suggest an hematological screening and the appropriate treatment for the thyroid nodule.
Topics: Aged; Amyloid; Biopsy, Fine-Needle; Female; Goiter, Nodular; Humans
PubMed: 24267036
DOI: 10.1186/1471-2482-13-S2-S43 -
Otolaryngologic Clinics of North America Dec 2015Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is... (Review)
Review
Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is based on the association with other clinical features, defined as syndromic hearing loss (SHL). Determining the cause of the HL in these patients is extremely beneficial as it enables a personalized approach to caring for the individual. Early screening can further aid in optimal rehabilitation for a child's development and growth. The advancement of high-throughput sequencing technology is facilitating rapid and low-cost diagnostics for patients with SHL.
Topics: Biomarkers; Child; Early Diagnosis; Genetic Linkage; Goiter, Nodular; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Mutation; Usher Syndromes; Waardenburg Syndrome
PubMed: 26443487
DOI: 10.1016/j.otc.2015.07.007 -
Medical Science Monitor : International... Aug 2022BACKGROUND Benign retrosternal thyroid goiters can become large enough to compress the trachea and result in tracheomalacia and stenosis. This retrospective study from a...
BACKGROUND Benign retrosternal thyroid goiters can become large enough to compress the trachea and result in tracheomalacia and stenosis. This retrospective study from a single surgical center aimed to study the surgical management of 48 patients with retrosternal goiter and tracheal stenosis diagnosed and treated from January 2017 to December 2021. MATERIAL AND METHODS All preoperative contrast-enhanced CT scans showed retrosternal goiter and tracheal stenosis. RG was classified into type I in 28 patients, type II in 12 patients, and type III in 8 patients. TS was classified into grade I in 31 patients, grade II in 11 patients, and grade III in 6 patients. All patients were referred for surgery. Clinicopathologic features and surgical outcomes were recorded. RESULTS All operations were successfully performed. There were 41 patients with transcervical incision, 4 with cervical incision+sternotomy, 2 with cervical incision and thoracoscopic surgery, and 1 with cervical incision and surgery via the subxiphoid approach. Two patients presented recurrent laryngeal nerve injury. One patient showed short-term hand and foot numbness. The patients were pathologically diagnosed as simple nodular goiter (n=27), nodular goiter combined with cystic change (n=6), adenomatous nodular goiter (n=10), and thyroid adenoma (n=5). There was no prominent tumor recurrence or gradual TS remission. CONCLUSIONS This study has highlighted that patients with retrosternal goiter and tracheal stenosis may have comorbidities and require a multidisciplinary approach to management. The choice of anesthesia, surgical approach, and maintenance of the airway during and after surgery should be individualized.
Topics: Goiter, Nodular; Goiter, Substernal; Humans; Retrospective Studies; Thyroidectomy; Tracheal Stenosis
PubMed: 35949114
DOI: 10.12659/MSM.936637 -
Journal of Medicine and Life Jan 2023Thyroid nodules are common, occurring in 50-60% of healthy patients. Currently, there are no effective conservative treatment options for nodular goiter, and surgery can...
Thyroid nodules are common, occurring in 50-60% of healthy patients. Currently, there are no effective conservative treatment options for nodular goiter, and surgery can have limitations and potential complications. The purpose of this study was to evaluate the efficacy, tolerability, and long-term results of using sclerotherapy and laser-induced interstitial thermotherapy (LITT) to treat benign thyroid nodules. A retrospective analysis was conducted on 456 patients with benign nodular goiter who received LITT. The volume of the nodular goiter was measured at 1, 3, 6, and 12 months post-treatment, and a repeated fine needle aspiration (FNA) with the cytological examination was performed to verify the structure of the nodular goiter in the long term. The results showed that LITT was an effective method for treating nodular mass (nodules), as evidenced by a decrease in the volume of NG by 51-85% after 6-12 months. FNA results 2-3 years after LITT showed no thyrocytes, only connective tissue, indicating the efficacy of LITT for benign thyroid nodules. LITT is highly effective in most cases, often resulting in the disappearance or significant decrease in nodular formations.
Topics: Humans; Thyroid Nodule; Goiter, Nodular; Ukraine; Retrospective Studies; Hyperthermia, Induced; Lasers
PubMed: 36873136
DOI: 10.25122/jml-2022-0187 -
Ugeskrift For Laeger Oct 2016
Topics: Aged, 80 and over; Female; Goiter, Nodular; Goiter, Substernal; Humans; Thyroidectomy; Tomography, X-Ray Computed
PubMed: 27808054
DOI: No ID Found -
Deutsches Arzteblatt International Mar 2018
Topics: Adult; Calcitonin; Goiter, Nodular; Humans; Thyroid Neoplasms
PubMed: 29669679
DOI: 10.3238/arztebl.2018.0221a -
International Journal of Medical... 2012To summarize the experience in the peri-operative treatment of giant nodular goiter.
OBJECTIVE
To summarize the experience in the peri-operative treatment of giant nodular goiter.
METHODS
A total of 123 patients with giant nodular goiter sized 6~20 cm were admitted into our hospital from 1990 to 2011 and the clinical data were retrospectively analyzed. These patients underwent total or subtotal thyroidectomy.
RESULTS
All patients underwent surgical intervention. Unilateral subtotal thyroidectomy was performed in 40 patients, unilateral total thyroidectomy in 1 patient, bilateral subtotal thyroidectomy in 79 patients, and unilateral total thyroidectomy, removal of entire isthmus and contralateral subtotal thyroidectomy in 3 patients. Nodular goiter was pathologically proven post-operatively. No short-term complications such as dyspnea or thyroid storm were found postoperatively. Post-operative follow up was done for 9 months to 6 years and no recurrence was observed.
CONCLUSION
Comprehensive pre-operative preparation, pre-operative evaluation, complete exposure of the operative field, meticulous operation, effective control and prevention of hemorrhage and prevention against damage to superior and recurrent laryngeal nerves are crucial for the successful surgical intervention of giant nodular goiter.
Topics: Adult; Aged; Carcinoma, Papillary; Female; Follow-Up Studies; Goiter, Nodular; Humans; Male; Middle Aged; Retrospective Studies; Thyroid Neoplasms; Thyroidectomy; Treatment Outcome; Ultrasonography
PubMed: 23136541
DOI: 10.7150/ijms.5129 -
Genes Oct 2021Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without...
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study aims to define the molecular diagnosis for a cohort of 24 suspected-PDS patients characterized by a deep radiological and audiological evaluation. Whole-Exome Sequencing (WES), the analysis of twelve variants upstream of , constituting the "CEVA haplotype" and Multiplex Ligation Probe Amplification (MLPA) searching for deletions/duplications in gene have been carried out. In five patients (20.8%) homozygous/compound heterozygous mutations, or pathogenic mutation with the CEVA haplotype have been identified, while five subjects (20.8%) resulted heterozygous for a single variant. protein modeling supported the pathogenicity of the detected variants, suggesting an effect on the protein stabilization/function. Interestingly, we identified a genotype-phenotype correlation among those patients carrying mutations, whose audiograms presented a characteristic slope at the medium and high frequencies, providing new insights into PDS. Finally, an interesting homozygous variant in has been identified in one patient negative to gene, suggesting the identification of a new HL candidate gene.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Genetic Association Studies; Genetic Predisposition to Disease; Goiter, Nodular; Haplotypes; Hearing Loss, Sensorineural; Humans; Infant; Male; Mutation; Myosin Type V; Sulfate Transporters; Exome Sequencing; Young Adult
PubMed: 34680964
DOI: 10.3390/genes12101569