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Cancer médullaire de la thyroïde familial isolé

Familial medullary thyroid carcinoma: case report

  • Cas Clinique / Case Report
  • Published:
Oncologie

Abstract

The authors describe the cases of two patients from the same family who presented medullary thyroid carcinoma (MTC). Hormone measurement showed a significantly elevated basal calcitonin. The treatment was total thyroidectomy. Histological findings showed multifocal, bilateral MTC. Direct sequencing identified in both patients a heterozygous germline missense mutation TGC-TTC at codon 634 of exon 11 in the RET gene that causes an animosubstitution of cysteine to phenylalanine. The clinical outcome of the cases is considered to be favourable.

Résumé

Les auteurs rapportent deux cas de carcinome médullaire de la thyroïde (CMT) appartenant à la même famille. Le dosage hormonal a montré une élévation significative de la calcitonine. Le traitement consistait en une thyroïdectomie totale. L’examen anatomopathologique a mis en évidence un CMT bilatéral et plurifocal. Le séquençage direct du proto-oncogène RET a permis d’identifier, chez les deux patientes, une mutation germinale spécifique TGC-TTC, sous forme hétérozygote, au niveau du codon 634 de l’exon 11 à l’origine de la substitution de l’acide aminé cystéine en phénylalanine. L’évolution clinique semble être favorable, mais sans confirmation biologique de la guérison.

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Authors and Affiliations

  1. Laboratoire de physiologie et écophysiologie, UFR environnement et santé, FST, université Hassan-II, 20650, Mohammedia, Maroc

    A. Ainahi & T. Fechtali

  2. Service de médecine nucléaire, faculté de médecine et de pharmacie, université Hassan-II, CHU Ibn-Rochd, 20100, Casablanca, Maroc

    M. Kebbou

  3. Laboratoire de microbiologie et biologie moléculaire, institut Pasteur du Maroc, M-20100, Casablanca, Maroc

    M. Timinouni

  4. Laboratoire d’hormonologie et marqueurs tumoraux, institut Pasteur du Maroc, M-20100, Casablanca, Maroc

    N. Benabdeljalil

  5. Laboratoire de biochimie, environnement et agro-alimentaire, UFR environnement et santé, FST, université Hassan-II, 20650, Mohammedia, Maroc

    A. Ainahi & S. El Antri

Authors
  1. A. Ainahi
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  2. M. Kebbou
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  3. M. Timinouni
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  4. N. Benabdeljalil
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  5. T. Fechtali
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  6. S. El Antri
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Correspondence to A. Ainahi.

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Ainahi, A., Kebbou, M., Timinouni, M. et al. Cancer médullaire de la thyroïde familial isolé. Oncologie 12 (Suppl 1), 18–20 (2010). https://doi.org/10.1007/s10269-008-0862-y

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  • DOI: https://doi.org/10.1007/s10269-008-0862-y

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