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A complex endocrine conundrum

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Abstract

We describe a case of recurrent primary hyperparathyroidism, manifested as 3 metachronous parathyroid adenomata, in a 50 year-old woman who also had Hashimoto hypothyroidism, gastric gastrointestinal stromal tumour (GIST), cysts in liver and kidneys, 5 intestinal polyps (one of these a villous adenoma), diverticulitis and telangiectasia of lips. She did not have medullary thyroid carcinoma (MTC). Genetic analysis of the CDC73 gene [for Hyperparathyroidism—jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44 K) were all normal. She was found to be homozygous for a synonomous germline variant in exon 14 (p. Ser836Ser) of the RET oncogene. This RET variant is of unclear clinical significance, and has been previously reported both in normal individuals and in individuals with MTC. It is unlikely that homozygosity for the RET variant has been casual in the multiple pathologies that our patient has developed.

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References

  1. Ruiz A, Antiñolo G, Fernández RM, Eng C, Marcos I, Borrego S (2001) Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. Clin Endocrinol 55:399–402

    Article  CAS  Google Scholar 

  2. Machens A, Spitschak A, Lorenz K, Pützer BM, Dralle H (2011) Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation? Clin Endocrinol 75:801–805

    Article  CAS  Google Scholar 

  3. Machens A, Frank-Raue K, Lorenz K, Rondot S, Raue F, Dralle H (2012) Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cancer. Clin Endocrinol 76:691–697

    Article  CAS  Google Scholar 

  4. Baumgartner-Parzer SM, Lang R, Wagner L, Heinze G, Niederle B, Kaserer K, Waldhäusl W, Vierhapper H (2005) Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? J Clin Endocrinol Metabol 90:6232–6236

    Article  CAS  Google Scholar 

  5. Costa P, Domingues R, Sobrinho LG, Bugalho MJ (2005) RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population. Endocrine 27:239–243

    Article  PubMed  CAS  Google Scholar 

  6. Siqueira DR, Romitti M, da Rocha AP, Ceolin L, Meotti C, Estivalet A, Puñales MK, Maia AL (2010) The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma. Endocr Relat Cancer 17:953–963

    Article  PubMed  Google Scholar 

  7. Pai R, Arun Nehru G, Samuel P, Paul MJ, Thomas N, Premkumar JA, Hephzibah J, Shanthyl N, Oommen R, Nair A, Seshadri MS, Rajaratnam S (2011) Mutational analysis of RET proto-oncogene among patients with medullary thyroid carcinoma and ‘at risk’ carriers from India. Clinical Endocrinol 75:571–572

    Article  Google Scholar 

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Authors and Affiliations

  1. Cellular and Molecular Medicine, St. George’s University of London, London, SW17 ORE, UK

    G. Bano

  2. Department of Clinical Genetics, St. George’s Healthcare NHS Trust, London, SW17 ORE, UK

    V. Siedel & S. Hodgson

  3. Department of Radiology, St. George’s Healthcare NHS Trust, London, SW17 ORE, UK

    N. Beharry

  4. Department of Cellular Pathology, St. George’s Healthcare NHS Trust, London, SW17 ORE, UK

    P. Wilson

  5. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, The Churchill Hospital, Oxford, OX3 7LE, UK

    T. Cranston

  6. Thomas Addison Unit, St. George’s Hospital, Blackshaw Road, London, SW17 ORE, UK

    G. Bano

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  1. G. Bano
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  2. V. Siedel
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  3. N. Beharry
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  4. P. Wilson
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  5. T. Cranston
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  6. S. Hodgson
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Correspondence to G. Bano.

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Bano, G., Siedel, V., Beharry, N. et al. A complex endocrine conundrum. Familial Cancer 12, 577–580 (2013). https://doi.org/10.1007/s10689-012-9594-7

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  • DOI: https://doi.org/10.1007/s10689-012-9594-7

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