ECE2016 Eposter Presentations Clinical case reports - Thyroid/Others (71 abstracts)
Erdheim-Chester disease and papillary thyroid carcinoma: case report of a common association in a rare disease
David Aparício 1, , Nuno Martins 1 , Carlos Leichsenring 1 , Alice Rodrigues 1 , Ana João 1 , António Soares 1 , Marta Fragoso 1 , Rui Marinho 1 , Ricardo Rocha 1 , Marta Sousa 1 , Serguei Gouminski 1 , Cisaltina Sobrinho 1 , Wima Dias 1 , Énio Afonso 1 , Vasco Geraldes 1 & Vitor Nunes 1
1Hospital Professor Doutor Fernando da Fonseca, Lisboa/Amadora, Portugal; 2Nova Medical School, Lisboa, Portugal.
Introdution: Erdheim-Chester disease is a rare multisystemic form of Non-langerhans cell histiocytosis CD67 positive, with approximately 550 published cases. Papillary carcinoma is the most common thyroid cancer with BRAF V600E the most common mutation. Both diseases may be associated to BRAF V600E mutation. If Erdheim- Chester disease is positive to this mutation on histiocytes, a specific pharmacolgical treatment is available, (vemurafenib), with better results.
Case report: We present a 69 years old woman with previous diagnosis of negative BRAF Erdheim-Chester disease. During follow up of the disease, a hypodense nodule without suspicious signs was identified in the thyroid. The patient had a fine needle aspiration of the nodule, being diagnosed a papillary carcinoma. The patient was submitted to a total thyroidectomy, having been discharged at day four without any complication. She was submitted to radioative iodine. Papillary carcinoma was positive for BRAF V600E mutation. Follow up of 1 year without recurrence of thyroid cancer.
Conclusion: With this case report we want to alert and suggest, that if the patient has a diagnosis of Erdheim-Chester disease and a thyroid nodule, that lesion should be biopsied, even if it’s clinical aspect is not suspicious.
With this case we concluded that if the papillary carcinoma cells are positive to the BRAF V600E, it doesn’t mean that the Erdheim-Chester histiocytes are positive to this mutation. Although it’s the same mutation, if a papillary carcinoma is present, the mutation shouldn’t be searched on papillary cells and the introduction of the new armamentarium should be based on mutation in the histiocytes cells.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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