ECE2021 Audio Eposter Presentations Thyroid (157 abstracts)
-Systemic erdheim-chester disease associated with braf-positive papillary thyroid carcinoma
Iuliana Ilie 1 , Jean Francois Emile 2 , Natalie Chereau 3 , Julien Haroche 3 , Camille Buffet 3 , Gabrielle Deniziaut 3 , Teodor Constantin 4 , Bogdan Bercu 5 , Luciana Oprea 6 , Andreea Banica 6 & Madalina Musat 6
1Gral Medical Clinic, Endocrinology, Bucharest, Romania; 2Hôpital Ambroise Pare, Paris, France; 3University Hospitals Pitié Salpêtrière – Charles Foix, Paris, France; 4Gral Medical Clinic, Oncology, Bucharest, Romania; 5Dr. Carol Davila Central Military Emergency University Hospital, Bucharest, Romania; 6C.I. Parhon National Institute of Endocrinology, Bucharest, Romania
Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with distinctive clinical and immunophenotypic features, involving somatic mutations of BRAF and activation of MAPK pathway. Other BRAF mutated neoplasms such as papillary thyroid carcinoma (PTC), may also occur synchronous with EDC. There are several reports in the literature of concurrent Langerhans Cell Histiocytosis (LCH) and PTC which suggests that the association is not random, however ECD with systemic involvement and PTC has only been reported in one case only. We report a second case of EDC and concurrent PCT in a 30 years old young man, who first presented in our service with two years history of bilateral exophthalmos and progressive asthenia. Thyroid function was normal, excluding Graves disease. He had no polyuria and no other signs of hypopituitarism. The MRI of the orbit showed bilateral retroorbital pseudonodular masses of 3 cm. PET-CT scan was performed to reveal additional retroperitoneal pararenal masses with partial ureteral obstruction, bilateral and symmetric osteosclerosis of the meta – and diaphysis of femur and humerus, cardiac involvement with pericardial effusion and a right thyroid nodule with high metabolic activity. Bone scintigraphy unveiled typical lesions for ECD. Left retroorbital biopsy was performed and histiocytes with frothy cytoplasm were observed. Genetic and IHC testing of retroorbital tissue revealed BRAF V600E mutation. IHC of the histiocytes was positive for CD163 and for Phospho-ERK. EDC with central nervous system, bone, retroperitoneum and cardiac involvement was diagnosed and treatment with BRAF inhibitor vemurafenib was commenced, with rapid improvement of both exophthalmos and retroperitoneal masses at 3 and 6 months of treatment. FNAB for the thyroid nodule was performed that was suspicious of malignancy and followed by total thyroidectomy. Pathology report revealed a right papillary thyroid carcinoma T2N1b, with the presence of high cell component expressing BRAF V600E mutation. Radioiodine therapy was also performed and patient is currently under surveillance with levothyroxine substitution. This case outlines the systemic involvement of EDC and its association with BRAF-positive PTC with a view of considering an EDC diagnosis workup in a non-LCH histiocytic lesion with A BRAF(V600E) mutation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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