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Clinical characteristics and genetic screening of an extended family with MEN2A

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Abstract

MEN-2A is characterized by medullary thyroid carcinoma (MTC) with pheochromocytoma and sometimes parathyroid adenoma. In affected members of the family, the risk of MTC is about 100%. Biochemical screening allows tumors to be detected early but even at this stage treatment is not always curative. Missense mutations in exon 10 and 11 of the RET proto-oncogene are associated with MEN- 2A. Early detection of this mutation by DNA analysis allows the identification of the carriers of the gene. We performed genetic screening in 88 members of an extended family with MEN- 2A and found 18 members positive for RET mutation (Cys634Gly). Only three of these 18 RET positive cases had a previous diagnosis of medullary cancer and/or pheochromocytoma. Up to now, 12 of the RET positive cases have undergone thyroidectomy. There was extended disease with cervical lymph node metastasis in 6 of them, bilateral medullary microcancer in 3 and c-cell hyperplasia in the remaining 3. Three of the 18 RET positive patients had also pheochromocytoma. Primary hyperparathyroidism was present in only one patient. The mean age of diagnosis of medullary cancer was between 25–50 yr and mean age of death was between 35–95 yr in affected members of the family. The family had many other affected members in other cities in Turkey and in other countries throughout the world from Australia to the Netherlands. So this family is perhaps one of the most extended families with MEN2A.

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Authors and Affiliations

  1. School of Medicine, Department of Endocrinology, Yüzüncü Yil University, Ipekyolu Caddesi, Kanarya Bloklari, A Blok, No: 22, D:3, 65300, Van, Turkey

    E. Algün, C. Topal, H. Ayakta, I. Uygan & H. Aksoy

  2. Institute for Experimental Medical Research (DETAE), İstanbul University, Van, Turkey

    N. Abaci & N. Erginel-Ünaltuna

  3. School of Medicine, Department of Pathology, Yüzüncü Yil University, Van, Turkey

    M. Kösem

  4. School of Medicine, Department of Surgery, Yüzüncü Yil University, Van, Turkey

    Ç. Kotan

  5. School of Medicine, Department of Pediatric Surgery, Yüzüncü Yil University, Van, Turkey

    B. Köseoğlu

  6. School of Medicine, Department of Biochemistry, Yüzüncü Yil University, Van, Turkey

    R. Šekeroğlu

  7. School of Medicine, Department of Radiology, Yüzüncü Yil University, Van, Turkey

    H. Aslan

  8. School of Medicine Department of Endocrinology, İstanbul University, Van, Turkey

    H. Boztepe & F. Alagöl

Authors
  1. E. Algün
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  2. N. Abaci
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  3. M. Kösem
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  4. Ç. Kotan
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  5. B. Köseoğlu
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  6. H. Boztepe
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  7. R. Šekeroğlu
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  8. H. Aslan
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  9. C. Topal
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  10. H. Ayakta
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  11. I. Uygan
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  12. F. Alagöl
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  13. N. Erginel-Ünaltuna
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  14. H. Aksoy
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Correspondence to E. Algün.

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Algün, E., Abaci, N., Kösem, M. et al. Clinical characteristics and genetic screening of an extended family with MEN2A. J Endocrinol Invest 25, 603–608 (2002). https://doi.org/10.1007/BF03345083

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  • DOI: https://doi.org/10.1007/BF03345083

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