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Updated: Mar 31, 2026

Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
Absence of somatic mutations of the mTOR gene in differentiated thyroid cancer
Avaniyapuram Kannan Murugan1, Eman A Humudh2, Ebtesam Qasem1
1Molecular Endocrinology Section, Department of Molecular Oncology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
Abstract:
Thyroid cancer is the most common endocrine malignancy with increasing incidence. Mammalian target of rapamycin (mTOR) is an important downstream mediator of phosphatidylinositol 3-kinase (PI3K/Akt) signaling and regulates cell growth, apoptosis and metabolism. The mTOR gene is frequently mutated in human cancers. Although PI3K/Akt pathway and its component genes were extensively studied in thyroid cancer, it is not known whether mTOR gene is somatically mutated and play a role in differentiated thyroid cancer (DTC). To determine the status of mTOR mutations in 53 DTC, we extensively examined 19 selected exons of mTOR gene which were reported to be frequently mutated in other human cancers. Unlike in other human cancers, we did not find common somatic mutations in the mTOR gene in differentiated thyroid cancer, except for some synonymous single nucleotide polymorphisms. Our results suggest that mTOR mutation is very rare and may not play a significant role in DTC.
Insights
Somatic mutations in the mammalian target of rapamycin (mTOR) gene are rare in differentiated thyroid cancer (DTC). This study found no common mTOR mutations, suggesting it may not significantly contribute to DTC development.
Area of Science:
- Endocrinology
- Oncology
- Molecular Biology
Background:
- Thyroid cancer is the most common endocrine malignancy, with rising incidence.
- The mammalian target of rapamycin (mTOR) pathway is crucial for cell growth and is frequently altered in various cancers.
- The role of mTOR gene mutations in differentiated thyroid cancer (DTC) remains largely unexplored.
Purpose of the Study:
- To investigate the frequency and significance of somatic mutations in the mTOR gene within a cohort of differentiated thyroid cancer patients.
- To determine if mTOR gene mutations contribute to the pathogenesis of DTC.
Main Methods:
- Analysis of 19 selected exons of the mTOR gene in tumor samples from 53 patients with differentiated thyroid cancer.
- Sequencing of targeted exons to identify somatic mutations.
Main Results:
- No common somatic mutations in the mTOR gene were identified in the 53 DTC samples examined.
- Only synonymous single nucleotide polymorphisms were observed, indicating a lack of significant mTOR genetic alterations in this cohort.
- The findings contrast with the known frequent mutations of mTOR in other human cancers.
Conclusions:
- Somatic mutations in the mTOR gene appear to be rare in differentiated thyroid cancer.
- The mTOR gene is unlikely to play a major role in the development or progression of DTC.
- Further research may focus on other signaling pathways implicated in DTC pathogenesis.
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