Abstract
We report on a patient with primary hyperparathyroidism, owing to the concurrence of parathyroid adenoma with carcinoma, who had a newly recognized germline mutation of the multiple endocrine neoplasia type 1 gene (MEN1 gene). The patient underwent total parathyroidectomy, and histological examination revealed parathyroid carcinoma and multiple adenoma of the other three glands. Genetic analysis revealed a newly recognized heterozygous germline mutation (842deIC, exon 4) of the MEN1 gene. Both imaging studies and laboratory data showed no evidence of MEN 1 in the patient. Four family members—three sisters and one daughter—had neither clinical features of MEN 1 nor genetic evidence of the MEN1 gene. This is the first report of a germline mutation of the MEN 1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity of the parathyroids may result in the formation of carcinoma.
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Castleman, B. and Mallory, T. B. (1935). Am. J. Pathol. 13, 553–574.
Wang, C. and Gaz, R. D. (1985). Am. J. Surg. 149, 522–527.
Wynne, A. G., van Heerden, J., Carney, J. A., and Fitzpatrick, L. A. (1992), Medicine 71, 197–205.
Favia, G., Lumachi, F., Polistina, F., and D'Amico, D. F. (1998). World J. Surg. 22, 1225–1230.
Golden, A., Canary, J. J., and Kerwin, D. M. (1965). Am. J. Med. 38, 562–578.
Kramer, W. M. (1970). Am. J. Clin. Pathol. 53, 275–283.
Mallette, L. E., Bilezikian, J. P., Ketcham, A. S., and Aurbach, G. D. (1974). Am. J. Med. 57, 642–648.
Wu, C.-W., Huang, C.-I., Tsai, S.-T., Chiang, H., Lui, W.-Y., and P'eng, F.-K. (1992). Eur. J. Surg. Oncol. 18, 517–520.
Williamson, C., Cavaco, B. M., Jausch, A., et al. (1999) J. Bone Miner. Res. 14, 230–239.
Knee, T. S., Yoshihashi, A. K., Aprill, B. S., Drake, A. J., and Shakir, K. M. M. (1998). Program and abstract of 80th annual meeting of the Endocrine Society.
Trump, D., Farren, B., Wooding, C., et al. (1996). Q. J. Med. 89, 653–659.
Chandrasekharappa, S. C., Guru, S. C., Manickam, P., et al. (1997). Science 276, 404–407.
Agarwal, S. K., Kester, M. B., Debelenko, L. V., et al. (1997). Hum. Mol. Genetics 6, 1169–1175.
Lemmens, I., Van de Ven, W. J., Kas, K., et al. (1997). Hum. Mol. Genetics 6, 1177–1183.
Shimizu, S., Tsukada, T., Futami, H., Ui, K., Kameya, T., Kawanaka, M., Uchiyama, S., Aoki, A., Yasuda, H., Kawano, S., Ito, Y., Kanbe, M., Obara, T., and Yamaguchi, K. (1997). Jpn. J. Cancer Res. 88 1029–1032.
Bassett, J. H. D., Forbes, S. A., Pannett, A. A. J., Lloyd, S. E., Christie, P. T., Wooding, C., Harding, B., Besser, G. M., Edwards, C. R., Monson, J. P., Sampson, J., Wass, J. A. H., Wheeler, M. H., and Thakker, R. V. (1998) Am. J. Hum. Genetics 62, 232–244.
Sato, M., Matsubara, S., Miyauchi, A., Ohye, H., Imachi, H., Murao, K., and Takahara, J. (1998). J. Med. Genetics 35, 915–919.
Heppner, C., Kester, M. B., Agarwal S. K., et al. (1997). Nat. Genetics 16, 375–378.
Mulligan, L. M., Kwok, J. B. J., Healey, C. S., Elsdon, M. J., Eng, C., Gardner, E., Love, D. R., Mole, S. E., Moore, J. K., Papi, L., Ponder, M. A., Telenius, H., Tunnacliffe, A., and Ponder, B. A. J. (1993). Nature 363, 458–460.
Guru, S. C., Goldsmith, P. K., Burns, A. L., Marx, S. J., Spiegel, A. M., Collins, F. S., and Chandrasekharappa, S. C. (1998). Proc. Natl. Acad. Sci. USA 95, 1630–1634.
Agarwal, S. K., Guru, S. C., Heppner, C., Erdos, M. R., Collins, R. M., Park, S. Y., Saggar, S., Chandrasekharappa, S. C., Collins, F. S., Spiegel, A. M., Marx, S. J., and Burns, A. L. (1999). Cell 96, 143–152.
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Sato, M., Miyauchi, A., Namihira, H. et al. A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma. Endocr 12, 223–226 (2000). https://doi.org/10.1385/ENDO:12:3:223
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DOI: https://doi.org/10.1385/ENDO:12:3:223