Aims And Background: The incidence rate of colorectal cancer (CRC) increases every year in Korean populations. However, association between the GNAS mutation and colorectal precancerous lesions has not been studied in in Korean populations. To contribute to better understanding of colorectal carcinogenesis, we analyzed GNAS mutation in 100 cancerous and 96 precancerous colorectal lesions.

Methods: The records of colonoscopic polypectomy performed at Dongsan Medical Center between 1999 and 2003 were reviewed retrospectively. Precancerous lesions included 7 villous adenomas, 59 tubular adenomas, and 18 sessile serrated adenomas, and 12 hyperplastic polyps. Keimyung Human Bio-Resource Bank at Dongsan Medical Center provided 100 CRC samples.

Results: GNAS mutation was not found in any colorectal cancer or any precancerous colorectal lesions, including villous adenoma, which is thought to harbor the mutation.

Conclusions: The role of GNAS mutation might be limited in colorectal neoplasms of the Korean population.

Download full-text PDF

Source
http://dx.doi.org/10.5301/tj.5000400DOI Listing

Publication Analysis

Top Keywords

gnas mutation
20
mutation colorectal
12
colorectal
8
colorectal carcinogenesis
8
colorectal cancer
8
korean populations
8
precancerous lesions
8
precancerous colorectal
8
dongsan medical
8
medical center
8

Similar Publications

Background: Colorectal cancer (CRC) is the second leading cause of cancer death worldwide. Early detection of precursor lesions or early-stage cancer could hamper cancer development or improve survival rates. Liquid biopsy, which detects tumor biomarkers, such as mutations, in blood, is a promising avenue for cancer screening.

View Article and Find Full Text PDF

Progressive osseous heteroplasia (POH) is an ultrarare hereditary disease that begins with cutaneous ossification, and progressive heterotopic ossification involves subcutaneous and deep connective tissues. We reported a case of POH in a five-month-old boy with clinical, pathological, and genetic features of POH. Most POH cases are caused by GNAS inactivating mutations, and the mutation of GNAS is also found in some other related heterotopic ossification conditions.

View Article and Find Full Text PDF

Dysregulated FGF23 production is a demonstrated cause of hypophosphatemia and osteomalacia. Diseases associated with these conditions include phosphaturic mesenchymal tumor (PMT) causing tumor induced osteomalacia, various forms of rickets, and fibrous dysplasia (FD). Coexistence of 2 conditions that can increase FGF23 concentrations is rare.

View Article and Find Full Text PDF
Article Synopsis
  • Approximately 10% of lung adenocarcinomas (LUAD) have mucinous histology (LUADMuc), which is linked to a lighter/absent smoking history and a higher prevalence of KRAS mutations compared to LUAD without this histology (LUADnon-muc).
  • A study analyzed features and treatment outcomes of LUADMuc and LUADnon-muc patients, revealing LUADMuc patients had less aggressive disease characteristics and a poorer response to current therapies, especially immunotherapy.
  • Overall, LUADMuc showed lower objective response rates, shorter progression-free and overall survival compared to LUADnon-muc, highlighting a need for more effective treatment strategies for this subgroup.
View Article and Find Full Text PDF

[Application of 9-gene panel in assisting fine needle aspiration cytology to diagnose thyroid cancer].

Zhonghua Zhong Liu Za Zhi

November 2024

Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing100021, China.

Article Synopsis
  • The study investigates the effectiveness of a 9-gene panel for diagnosing thyroid nodules that have indeterminate cytological results, compared to traditional BRAF V600E single-gene detection.
  • Researchers analyzed 579 thyroid nodule samples from patients, using next-generation sequencing to identify mutations in nine specific genes associated with cancer.
  • The results showed that 47.5% of tested nodules had mutations, with a majority of identified malignant cases linked to the BRAF gene, demonstrating the panel's potential as a diagnostic tool alongside standard cytology methods.
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!