Objective: To determine the relationship between a single point mutation in RET proto-oncogene and the occurrence of multiple endocrine neoplasia type 2B (MEN-2B) in a Chinese pedigree.
Methods: We used the methods of polymerase chain reaction (PCR), reverse transcriptase polymerase chain reaction (RT-PCR) and direct gene sequencing of PCR products by an automated DNA sequencer to scan the entire exon 16 of RET proto-oncogene in the tumor (c)DNA from one patient with MEN-2B and the leukocyte DNA from this patient and both of his parents.
Results: We found the same mutation Met(ATG)-->Thr(ACG) at codon 918 in exon 16 of RET proto-oncogene in both the tumor (c)DNA and leukocyte DNA of the MEN-2B patient in the form of homozygous missense mutation, but there was no corresponding mutation in leukocytes DNA of his parents.
Conclusion: We propose that in Chinese population, the point mutation M918T is also associated with the onset of MEN-2B and this case of MEN-2B is sporadic. Thus it may provide a genetic basis for the early diagnosis and treatment of patients suffering from MEN-2B and their at-risk family members in Chinese population.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
RNA-Based Next-Generation Sequencing in Non-Small Cell Lung Cancer patients: data from Campania, Italy.
Pathologica
October 2024
Department of Public Health, University of Naples Federico II, Naples, Italy.
Objective: ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.
View Article and Find Full Text PDFStructure-Based Design of 2-Aminopyrazolpyrimidopyridone Derivatives as New Rearranged During Transfection (RET) Kinase Inhibitors.
Chem Biol Drug Des
January 2025
Jiangxi Provincial Key Laboratory of Synthetic Pharmaceutical Chemistry, Gannan Normal University, Ganzhou, China.
RET (Rearranged during transfection) kinase is a validated target for non-small cell lung cancer (NSCLC). In 2020, two selective RET inhibitors, selpercatinib and pralsetinib were approved by the US FDA. However, high treatment costs and clinically acquired resistance (e.
View Article and Find Full Text PDFAnalysis of outcomes in resected early-stage NSCLC with rare targetable driver mutations.
Ther Adv Med Oncol
December 2024
Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre (PMCC), University Health Network (UHN), 700 University Avenue, 7-812, Toronto, ON M5G 2M9, Canada.
Background: Given advancements in adjuvant treatments for non-small-cell lung cancer (NSCLC) with epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK)-targeted therapies, it is important to consider postoperative targeted therapies for other early-stage oncogene-addicted NSCLC. Exploring baseline outcomes for early-stage NSCLC with these rare mutations is crucial.
Objectives: This study aims to assess relapse-free survival (RFS) and overall survival (OS) in patients with resected early-stage NSCLC with rare targetable driver mutations.
A novel role for nonactin: interfering with G-quadruplex in RET-driven medullary thyroid cancer.
BMC Cancer
December 2024
Department of Pharmaceutical Sciences, College of Pharmacy, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Background: Medullary Thyroid Carcinoma (MTC) is closely associated with mutations in the RET proto-oncogene, placing the activated RET protein at the center of MTC pathogenesis. Existing therapeutic solutions, primarily tyrosine kinase inhibitors such as selpercatinib, vandetanib, and cabozantinib, have shown moderate efficacy but are accompanied by increased risks of side effects and resistance. This study unveils a promising avenue using nonactin, a compound historically recognized for its antibacterial properties, targeting the G-quadruplex interactions within the RET proto-oncogene.
View Article and Find Full Text PDFDissection of RET p.M918T-driven progression of hereditary vs. sporadic medullary thyroid cancer.
Eur J Surg Oncol
December 2024
Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, D-06097, Halle (Saale), Germany; Department of General, Visceral and Transplantation Surgery, Division of Endocrine Surgery, University of Duisburg-Essen, D-45122, Essen, Germany.
Background: Whether inherited in the context of multiple endocrine neoplasia 2B at germline level or acquired in a lifetime, all RET p.M918T (RET c.2753T>C) mutations should activate the RET tyrosine kinase receptor alike, with similar degrees of medullary thyroid cancer (MTC) progression when disparities in disease onset and multifocal growth are accounted for.
View Article and Find Full Text PDFWant 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!