Exceptional Evolution of a Squamous Odontogenic Tumor in the Jaw: Molecular Approach
Abstract
:1. Introduction
2. Results
2.1. Clinical and Histological Manifestations of the Tumors
2.2. Genetic Analysis of the Tumors
3. Discussion
4. Materials and Methods
4.1. Human Samples
4.2. Magnetic Resonance Imaging
4.3. Positron Emission Tomography-Computed Tomography
4.4. Histopathological Analysis
4.5. Molecular Analysis: DNA Total Extraction and Sequencing
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Gene | Region | HGVSC | Frec. Genotype Alt. | Ref. ID |
---|---|---|---|---|
RET * | Exon 13 | NM_020975.4:c.2348A>C, p.Asn783thr | 46% | rs587778656 |
POLE * | Exon 39 | NM_006231.3:c.5174T>C, p.Val1725Ala | 55% | rs1064796427 |
BRCA2 | Exon 11 | NM_0000059.3:c.3134insAT, p.Val1045AspfsTer5 | 9.5% | - |
FGFR3 | Exon 11 | NM_001163213.1:c.1534>A, p.Leu512Met | 2.6% | - |
Gene | Region | HGVSC | Frec. Genotype Alt. | Ref. ID |
---|---|---|---|---|
RET * | Exon 13 | NM_020975.4:c.2348A>C, p.Asn783thr | 46% | rs587778656 |
POLE * | Exon 39 | NM_006231.3:c.5174T>C, p.Val1725Ala | 55% | rs1064796427 |
NSD1 | Exon 5 | NM_022455.4c.2846del, p.Pro949LeufsTer2 | 15% | - |
NSD1 | Exon 20 | NM_022455.4c.6050G>A, p.Arg2017Gln | 15% | rs587784177 |
Gene | Citoband | Region | Consequence Alteration |
---|---|---|---|
ALK | 2p23.2-p23.1 | chr2:29694813-29920685 | DEL:CNV-LOSS |
CDKN1B | 12p13.1 | chr12:12717778-12719004 | DUP:CNV-GAIN |
MAP2K1 | 15q22.31 | chr15:66387328-66490677 | DUP:CNV-GAIN |
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Alonso-Juarranz, M.; Sen, O.D.L.; Pérez, P.; González-Corchón, M.A.; Cabezas-Camarero, S.; Saiz-Pardo, M.; Viñas-Lopez, J.; Recio-Poveda, L.; Botella, L.M.; Falahat, F. Exceptional Evolution of a Squamous Odontogenic Tumor in the Jaw: Molecular Approach. Int. J. Mol. Sci. 2024, 25, 9547. https://doi.org/10.3390/ijms25179547
Alonso-Juarranz M, Sen ODL, Pérez P, González-Corchón MA, Cabezas-Camarero S, Saiz-Pardo M, Viñas-Lopez J, Recio-Poveda L, Botella LM, Falahat F. Exceptional Evolution of a Squamous Odontogenic Tumor in the Jaw: Molecular Approach. International Journal of Molecular Sciences. 2024; 25(17):9547. https://doi.org/10.3390/ijms25179547
Chicago/Turabian StyleAlonso-Juarranz, Miguel, Oscar De La Sen, Pablo Pérez, Maria Aranzazu González-Corchón, Santiago Cabezas-Camarero, Melchor Saiz-Pardo, Jesus Viñas-Lopez, Lucia Recio-Poveda, Luisa María Botella, and Farzin Falahat. 2024. "Exceptional Evolution of a Squamous Odontogenic Tumor in the Jaw: Molecular Approach" International Journal of Molecular Sciences 25, no. 17: 9547. https://doi.org/10.3390/ijms25179547