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Concurrent lymph node metastases of medullary and papillary thyroid carcinoma in a case with RET oncogene germline mutation

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Abstract

We report the case of a 72 yr-old woman who underwent total thyroidectomy and resection of neck lymph nodes because of a firm nodule in the right lobe, which was consistent with medullary thyroid carcinoma (MTC) on cytological examination. Histology showed multifocal bilateral MTC; a 2 mm papillary thyroid carcinoma (PTC) was also detected in the right lobe, next to a focus of MTC; five cervical lymph nodes contained MTC. In one right perithyroidal lymph node, concurrent metastases of MTC and PTC were demonstated. DNA analysis showed a point mutation in exon 14 at codon 804 of the RET proto-oncogene locus, as frequently found in cases of familial MTC (FMTC).

To our knowledge, this case represents the first documented case of concurrent lymph node metastases of MTC and PTC in a patient with RET proto-oncogene germline mutation. We report this unique case, discuss related thyroid malignancies, and suggest possible underlying pathogenetic mechanisms.

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Authors and Affiliations

  1. Department of Morphologic and Forensic Sciences, Section of Pathology, University of Moderna, Via S. Giacomo, 2-41012, Carpi (Modena), Italy

    S. Corrado MD & A. Cesinaro MD

  2. Department of Genetics, Catholic University of Rome, Italy

    M. G. Pomponi MD

  3. Department of Pathology, University of Pennsylvania Medical Center, Philadlphia, PA, USA

    V. A. LiVolsi MD

  4. Dipartimento di Medicina Interna-Reparto di Medicina 1, Ospedale Ramazzini, Via S. Giacomo, 2-41012, Carpi (Modena, Italy

    G. Papi MD & C. Carapezzi MD

Authors
  1. G. Papi MD
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  2. S. Corrado MD
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  3. M. G. Pomponi MD
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  4. C. Carapezzi MD
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  5. A. Cesinaro MD
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  6. V. A. LiVolsi MD
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Correspondence to G. Papi MD.

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Papi, G., Corrado, S., Pomponi, M.G. et al. Concurrent lymph node metastases of medullary and papillary thyroid carcinoma in a case with RET oncogene germline mutation. Endocr Pathol 14, 269–276 (2003). https://doi.org/10.1007/s12022-003-0020-4

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  • DOI: https://doi.org/10.1007/s12022-003-0020-4

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