Skip to main content
Log in

Papillary thyroid carcinoma as first and isolated neoplastic disease in a Lynch syndrome family member with a germline MLH1 mutation

  • Research Letter
  • Published:
Endocrine Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Umar, A., Boland, C.R., Terdiman, J.P., Syngal, S., de la Chapelle, A., Rüschoff, J., Fishel, R., Lindor, N.M., Burgart, L.J., Hamelin, R., Hamilton, S.R., Hiatt, R.A., Jass, J., Lindblom, A., Lynch, H.T., Peltomaki, P., Ramsey, S.D., Rodriguez-Bigas, M.A., Vasen, H.F.A., Hawk, E.T., Barrett, J.C., Freedman, A.N., Srivastava, S.: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J. Natl. Cancer Inst. (2004). https://doi.org/10.1093/jnci/djh034

  2. Giardiello, F.M., Allen, J.I., Axilbund, J.E., Boland, C.R., Burke, C.A., Burt, R.W., Church, J.M., Dominitz, J.A., Johnson, D.A., Kaltenbach, T., Levin, T.R., Lieberman, D.A., Robertson, D.J., Syngal, S., Rex, D.K.: Guidelines on genetic evaluation and management of lynch syndrome: A consensus statement by the us multi-society task force on colorectal cancer. Dis. Colon Rectum. (2014). https://doi.org/10.1097/DCR.000000000000000

  3. Stulp, R.P., Herkert, J.C., Karrenbeld, A., Mol, B., Vos, Y.J., Sijmons, R.H.: Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum, (2008)

  4. Broaddus, R.R., Lynch, P.M., Lu, K.H., Luthra, R., Michelson, S.J.: Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndrome. Mod. Pathol. (2004). https://doi.org/10.1038/modpathol.3800150

  5. Sponziello, M., Brunelli, C., Verrienti, A., Grani, G., Pecce, V., Abballe, L., Ramundo, V., Damante, G., Russo, D., Lombardi, C.P., Durante, C., Rossi, E.D., Straccia, P., Fadda, G., Filetti, S.: Performance of a dual-component molecular assay in cytologically indeterminate thyroid nodules. Endocrine. (2020). https://doi.org/10.1007/s12020-020-02271-y

  6. Verrienti, A., Pecce, V., Abballe, L., Ramundo, V., Falcone, R., Inanloo Nigi Jak, F., Brunelli, C., Fadda, G., Bosco, D., Ascoli, V., Carletti, R., Di Gioia, C., Grani, G., Sponziello, M.: Analytical validation of a novel targeted next-generation sequencing assay for mutation detection in thyroid nodule aspirates and tissue. Endocrine. (2020). https://doi.org/10.1007/s12020-020-02372-8

  7. Lipton, L.R., Johnson, V., Cummings, C., Fisher, S., Risby, P., Eftekhar Sadat, A.T., Cranston, T., Izatt, L., Sasieni, P., Hodgson, S. V., Thomas, H.J.W., Tomlinson, I.P.M.: Refining the Amsterdam criteria and Bethesda guidelines: Testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J. Clin. Oncol. (2004). https://doi.org/10.1200/JCO.2004.11.084

  8. Aswath, K., Welch, J., Gubbi, S., Veeraraghavan, P., Avadhanula, S., Gara, S.K., Dikoglu, E., Merino, M., Raffeld, M., Xi, L., Kebebew, E., Klubo-Gwiezdzinska, J.: Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors—A Cohort Study. Front. Endocrinol. (Lausanne). (2021). https://doi.org/10.3389/fendo.2021.653401

  9. Pelizzo, M.R., Pennelli, G., Zane, M., Galuppini, F., Colletti, P.M., Merante Boschin, I., Rubello, D.: Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics. Biomed. Pharmacother. (2015). https://doi.org/10.1016/j.biopha.2015.06.008

  10. Lutz, B.S., Leguisamo, N.M., Cabral, N.K., Gloria, H.C., Reiter, K.C., Agnes, G., Zanella, V., Meyer, E.L.S., Saffi, J.: Imbalance in DNA repair machinery is associated with BRAF V600E mutation and tumor aggressiveness in papillary thyroid carcinoma. Mol. Cell. Endocrinol. (2018). https://doi.org/10.1016/j.mce.2017.12.004

  11. Mio, C., Verrienti, A., Pecce, V., Sponziello, M., Damante, G.: Rare germline variants in DNA repair-related genes are accountable for papillary thyroid cancer susceptibility. Endocrine. (2021). https://doi.org/10.1007/s12020-021-02705-1

  12. Lu, Y., Jiang, B., Yuan, Y., Fei, J., Wang, J.: MutL homolog 1 expression in thyroid carcinoma and its clinical significance. J. Cancer Res. Ther. (2016). https://doi.org/10.4103/0973-1482.200764

  13. Fujita, S., Masago, K.: Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer. Sci. Rep. (2021). https://doi.org/10.1038/s41598-021-83177-1

  14. Javid, M., Sasanakietkul, T., Nicolson, N.G., Gibson, C.E., Callender, G.G., Korah, R., Carling, T.: DNA Mismatch Repair Deficiency Promotes Genomic Instability in a Subset of Papillary Thyroid Cancers. World J. Surg. (2018). https://doi.org/10.1007/s00268-017-4299-6

  15. Feng, A.L., Le, A., Johnson, D.N., Varvares, M.A.: Multiple simultaneous head and neck cancers in Lynch syndrome: Case report and literature review. Laryngoscope. (2018). https://doi.org/10.1002/lary.27259

  16. Ponz de Leon, M., Pedroni, M., Pezzi, A., Sulce, B., Roncucci, L., Domati, F., Rossi, G., Reggiani Bonetti, L.: Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes. Scand. J. Gastroenterol. (2018). https://doi.org/10.1080/00365521.2017.1386794

  17. Johnson, J.M., Chen, J., Ali, S.M., Dardi, I.K., Tuluc, M., Cognetti, D., Campling, B., Sama, A.R.: Molecular Profiling of Synchronous Colon Cancers and Anaplastic Thyroid Cancer in a Patient with Lynch Syndrome. J. Gastrointest. Cancer. (2018). https://doi.org/10.1007/s12029-016-9878-5

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to R. Bruno.

Ethics declarations

Conflict of interest

The authors declare no competing interests.

Informed consent

Patient gave her informed consent.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

These authors contributed equally: A. Verrienti and A. Carbone

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Verrienti, A., Carbone, A., Sponziello, M. et al. Papillary thyroid carcinoma as first and isolated neoplastic disease in a Lynch syndrome family member with a germline MLH1 mutation. Endocrine 77, 199–202 (2022). https://doi.org/10.1007/s12020-022-03048-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12020-022-03048-1

Navigation