Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular Mechanisms and Possible Functional Implications
Abstract
:1. Introduction
2. Results
2.1. Pituitary Tumors
2.2. Adrenocortical Tumors
3. Discussion
3.1. Genes and Pathways Identified in the Pituitary Tumor Patient Groups
3.2. Genes and Pathways Identified in the Adrenocortical Tumor Patient Groups
3.3. Implications for the Future
4. Methods
4.1. Patients
4.2. Ethical Statement
4.3. Genomic DNA Extraction and Whole Exome Library Preparation
4.4. High Throughput Data Analysis
4.5. Downstream Analyses
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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Patient ID | Family ID * | Disease-Causing MEN1 Variant | Age at Time of Analysis | Sex | Primary Hyperpara-Thyroidism | Pituitary Tumor | Neuro-Endocrine Neoplasm (NEN) | Pancreatic NEN | Adrenocortical Tumor | Other | Included in Pituitary Analysis (Patient or Group ID) | Included in Adrenal Analysis |
---|---|---|---|---|---|---|---|---|---|---|---|---|
A2 | A | c.1246_1248delGCC/p.Ala416del | 59 | F | yes | No | no | yes | no | n/d | neg | - |
C3 | C | c.945delG/p.Tyr316Profs*57 | 59 | M | yes | No | yes | yes | yes | n/d | - | pos(C) |
A4 | A | c.1246_1248delGCC/p.Ala416del | 54 | M | yes | Yes | no | yes | yes | n/d | pos(A) | pos(A) |
X5 | X | c.866C>A/p.Ala289Glu | 59 | F | yes | Yes | no | no | no | nasal cavity cancer | pos(X5) | neg |
A8 | A | c.1246_1248delGCC/p.Ala416del | 48 | M | yes | yes | no | no | no | n/d | pos(A) | neg |
C9 | C | c.945delG/p.Tyr316Profs*57 | 33 | M | yes | no | no | no | yes | adrenocortical oncocytoma | - | pos(C) |
X10 | X | c.945delG/p.Tyr316Profs*57 | 72 | F | yes | n/d | yes | yes (insulinoma) | no | n/d | - | neg |
X11 | X | c.416A>G/p.His139Arg | 75 | F | yes | no | yes | yes (insulinoma) | yes | n/d | neg | pos(X11) |
X12 | X | c.796C>T/p.Gln266Ter | 65 | F | yes | no | yes | yes | no | n/d | neg | neg |
X15 | X | c.1256delTGC/p.Leu419del | 75 | M | yes | yes | yes | no | yes | n/d | pos(X15) | pos(X15) |
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Skalniak, A.; Trofimiuk-Müldner, M.; Surmiak, M.; Totoń-Żurańska, J.; Jabrocka-Hybel, A.; Hubalewska-Dydejczyk, A. Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular Mechanisms and Possible Functional Implications. Int. J. Mol. Sci. 2024, 25, 1065. https://doi.org/10.3390/ijms25021065
Skalniak A, Trofimiuk-Müldner M, Surmiak M, Totoń-Żurańska J, Jabrocka-Hybel A, Hubalewska-Dydejczyk A. Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular Mechanisms and Possible Functional Implications. International Journal of Molecular Sciences. 2024; 25(2):1065. https://doi.org/10.3390/ijms25021065
Chicago/Turabian StyleSkalniak, Anna, Małgorzata Trofimiuk-Müldner, Marcin Surmiak, Justyna Totoń-Żurańska, Agata Jabrocka-Hybel, and Alicja Hubalewska-Dydejczyk. 2024. "Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular Mechanisms and Possible Functional Implications" International Journal of Molecular Sciences 25, no. 2: 1065. https://doi.org/10.3390/ijms25021065