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MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinoma
Katayoon Kasaian1, Ana-Maria Chindris, Sam M Wiseman
1Canada's Michael Smith Genome Sciences Centre (K.K., K.L.M., T.Z., K.T., J.E.S., A.J.M., R.A.M., M.A.M., S.J.M.J.), BC Cancer Agency, Vancouver, V5Z 4S6 Canada; Department of Otorhinolaryngology-Head and Neck Surgery (A.-M.C., J.D.C.), Mayo Clinic, Jacksonville, Florida 32224; Department of Surgery (S.M.W.), St. Paul's Hospital and University of British Columbia, Vancouver, V6Z 1Y6 Canada; Department of Laboratory Medicine and Pathology (M.R.), Mayo Clinic, Rochester, Minnesota 55905; Department of Cancer Biology (B.M.N., J.M.K., J.A.C., E.A.T., R.C.S.), Mayo Clinic, Jacksonville, Florida 32224; Department of Medical Genetics (M.A.M., S.J.M.J.), University of British Columbia, Vancouver, V6T 1Z4 Canada; Department of Medicine, Division of Endocrinology and Metabolism (R.C.S.), Mayo Clinic, Jacksonville, Florida 32224; and Department of Molecular Biology and Biochemistry (S.J.M.J.), Simon Fraser University, Burnaby, V5A 1S6 Canada.
Loss-of-function mutations in the MEN1 gene were found in 4% of oncocytic thyroid carcinomas. This discovery highlights the role of the menin protein and its pathways in thyroid cancer development.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Oncocytic thyroid carcinoma (Hürthle cell thyroid carcinoma) is a rare but aggressive malignancy.
- Current treatments include surgery, radioactive iodine, radiation, and chemotherapy.
- Understanding oncogenic pathways is crucial for improved clinical management.
Purpose of the Study:
- To investigate genetic alterations in oncocytic thyroid carcinoma.
- To identify potential therapeutic targets by understanding perturbed oncogenic pathways.
Main Methods:
- Whole genome sequencing of two oncocytic thyroid carcinomas and matched normal tissues.
- Targeted sequencing of 72 oncocytic thyroid carcinomas, one cell line, and five Hürthle cell adenomas for MEN1 gene mutations.
Main Results:
- MEN1 loss-of-function mutations were identified in 4% of oncocytic thyroid carcinoma patients.
- Whole genome sequencing revealed extensive copy number variations in tumor genomes.
Conclusions:
- Mutations in the MEN1 gene suggest a role for menin in thyroid tumorigenesis.
- Menin's involvement in critical cellular pathways (transcription, cell cycle, apoptosis, DNA repair) may be key in this cancer.
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