Limits...
Absence of somatic mutations of the mTOR gene in differentiated thyroid cancer.

Murugan AK, Humudh EA, Qasem E, Al-Hindi H, Almohanna M, Hassan ZK, Alzahrani AS - Meta Gene (2015)

Bottom Line: Mammalian target of rapamycin (mTOR) is an important downstream mediator of phosphatidylinositol 3-kinase (PI3K/Akt) signaling and regulates cell growth, apoptosis and metabolism.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).Our results suggest that mTOR mutation is very rare and may not play a significant role in DTC.

View Article: PubMed Central - PubMed

Affiliation: Molecular 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.

No MeSH data available.


Related in: MedlinePlus

Identification of mTOR genetic variants. A) Schematic diagram of domains of mTOR protein showing single nucleotide polymorphisms (T221T and S1851S) identified in thyroid cancer. B) The sequencing results were shown with a representative sense and antisense sequence chromatogram of single nucleotide polymorphisms found in exons 4 and 38, respectively.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4588405&req=5

f0005: Identification of mTOR genetic variants. A) Schematic diagram of domains of mTOR protein showing single nucleotide polymorphisms (T221T and S1851S) identified in thyroid cancer. B) The sequencing results were shown with a representative sense and antisense sequence chromatogram of single nucleotide polymorphisms found in exons 4 and 38, respectively.

Mentions: Irrespective of our approach, neither the initial screening of 63 randomly selected thyroid tumors (exons 1, 2, 3, 4, 5, 6, 12, 16, 21, 25, 29, 38, 42, 46, 50, 51, 52, and 55) nor the further search in the 21 high grade thyroid cancer revealed mTOR mutations (exons 1, 3, 21, 38, 42, 46, 50, 51, 52 and 55). Nonetheless, as illustrated in Fig. 1, we found a rare synonymous genetic variant resulting in C > G transversion (C663G) in 1 out 63 samples (1.6%) and a frequent synonymous variant resulting in C > T transition (C5333T) in 14 out of 84 samples, (16%). Both of these single nucleotide polymorphisms (SNPs) have been reported (C663G, rs112439072; C5553T, rs2275527) in the SNP databases (http://www.ncbi.nlm.nih.gov/projects/SNP/) and (http://asia.ensembl.org/Homo_sapiens/Transcript/Variation_Transcript/).


Absence of somatic mutations of the mTOR gene in differentiated thyroid cancer.

Murugan AK, Humudh EA, Qasem E, Al-Hindi H, Almohanna M, Hassan ZK, Alzahrani AS - Meta Gene (2015)

Identification of mTOR genetic variants. A) Schematic diagram of domains of mTOR protein showing single nucleotide polymorphisms (T221T and S1851S) identified in thyroid cancer. B) The sequencing results were shown with a representative sense and antisense sequence chromatogram of single nucleotide polymorphisms found in exons 4 and 38, respectively.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4588405&req=5

f0005: Identification of mTOR genetic variants. A) Schematic diagram of domains of mTOR protein showing single nucleotide polymorphisms (T221T and S1851S) identified in thyroid cancer. B) The sequencing results were shown with a representative sense and antisense sequence chromatogram of single nucleotide polymorphisms found in exons 4 and 38, respectively.
Mentions: Irrespective of our approach, neither the initial screening of 63 randomly selected thyroid tumors (exons 1, 2, 3, 4, 5, 6, 12, 16, 21, 25, 29, 38, 42, 46, 50, 51, 52, and 55) nor the further search in the 21 high grade thyroid cancer revealed mTOR mutations (exons 1, 3, 21, 38, 42, 46, 50, 51, 52 and 55). Nonetheless, as illustrated in Fig. 1, we found a rare synonymous genetic variant resulting in C > G transversion (C663G) in 1 out 63 samples (1.6%) and a frequent synonymous variant resulting in C > T transition (C5333T) in 14 out of 84 samples, (16%). Both of these single nucleotide polymorphisms (SNPs) have been reported (C663G, rs112439072; C5553T, rs2275527) in the SNP databases (http://www.ncbi.nlm.nih.gov/projects/SNP/) and (http://asia.ensembl.org/Homo_sapiens/Transcript/Variation_Transcript/).

Bottom Line: Mammalian target of rapamycin (mTOR) is an important downstream mediator of phosphatidylinositol 3-kinase (PI3K/Akt) signaling and regulates cell growth, apoptosis and metabolism.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).Our results suggest that mTOR mutation is very rare and may not play a significant role in DTC.

View Article: PubMed Central - PubMed

Affiliation: Molecular 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.

No MeSH data available.


Related in: MedlinePlus