Microsatellite instability (MSI) is a molecular landmark of mutations in DNA mismatch repair genes. The impaired efficiency of DNA repair mechanisms promotes carcinogenesis as well as contributes to tumour progression. Until now, only few studies on MSI in thyroid tumours have been published. Therefore, the aim of the present study was to investigate MSI as a possible characteristic feature of thyroid tumours. The analysis of 12 thyroid papillary carcinomas and 17 multinodular hyperplasias at 13 microsatellite loci showed MSI and loss of heterozygosity (LOH) in both types of lesion, with more alterations noted in the papillary thyroid carcinomas (in 65%) than in multinodular hyperplasia (in 35%). In carcinomas, LOH occurred more frequently than MSI, while in multinodular hyperplasia the LOH/MSI ratio is almost equal.

Download full-text PDF

Source
http://dx.doi.org/10.1159/000012117DOI Listing

Publication Analysis

Top Keywords

multinodular hyperplasia
12
microsatellite instability
8
thyroid papillary
8
thyroid tumours
8
thyroid
5
msi
5
instability thyroid
4
papillary carcinoma
4
multinodular
4
carcinoma multinodular
4

Similar Publications

Article Synopsis
  • A 48-year-old man experienced dysphagia and a growing neck mass, which was diagnosed as an ectopic thyroid nodule through imaging.
  • The mass was surgically excised, measuring 60×40 mm, and confirmed as a benign, encapsulated ectopic thyroid tissue after histological examination.
  • The patient's recovery was quick, with improved symptoms and normal thyroid function maintained during a 6-month follow-up, highlighting the need for specific imaging and surgical intervention in cases of ectopic thyroid growth.
View Article and Find Full Text PDF

Cervical lymph nodes can indicate various inflammatory or cancerous conditions. Ectopic thyroid carcinoma, particularly papillary carcinoma, can be found in resected lymph nodes even without clinical thyroid abnormalities, known as hidden (incidental) metastasis. We present the case of a 42-year-old woman with a 5 cm thyroid nodule and associated symptoms.

View Article and Find Full Text PDF
Article Synopsis
  • KEAP1 is a protein that usually promotes the degradation of NRF2, a factor that helps cells respond to oxidative stress, but mutations in KEAP1 can lead to diseases like familial multinodular goiter.
  • This study analyzed 39 patients with this goiter, identifying five with specific KEAP1 mutations that did not correlate with any other mutations related to goiter.
  • Results showed that these mutations led to increased activity of NRF2, causing thyroid hyperplasia and a protective response against oxidative stress, indicated by the upregulation of antioxidant and detoxification genes.
View Article and Find Full Text PDF

Looking Beyond Thyroid Malignancy: An Unusual Case of Dyshormonogenetic Goiter in Rural India.

Cureus

August 2024

Pathology, Ashwini Sahakari Rugnalaya Ani Sanshodhan Kendra, Solapur, IND.

Dyshormonogenetic goiter (DG) is a rare cause of congenital hypothyroidism (CH) occurring due to the lack of enzymes necessary for thyroid hormone synthesis. If left untreated, it impairs hormone production leading to developmental and metabolic complications. Morphologically, it is characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy causing difficulties in diagnosis.

View Article and Find Full Text PDF

Background/objective: Follicular thyroid cancer without an intrathyroidal primary cancer is rare. We present a patient with multifocal pulmonary metastatic follicular thyroid cancer without apparent cancer within her thyroid.

Case Report: A 44-year-old woman was referred to the thyroid cancer clinic via telemedicine for evaluation of intrapulmonary thyroid tissue.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!