Langerhans cell histiocytosis and Erdheim‐Chester disease, both with cutaneous presentations, and papillary thyroid carcinoma all harboring the BRAFV600E mutation. (20th November 2015)

• Record Type: Journal Article
• Authors: Johnson, William T.; Patel, Parth; Hernandez, Amanda; Grandinetti, Lisa M.; Huen, Arthur C.; Marks, Stanley; Ho, Jonhan; Monaco, Sara E.; Jaffe, Ronald; Picarsic, Jennifer
• Is Part Of: Journal of cutaneous pathology. Volume 43:Number 3(2016)
• Page Start: 270
• Page End: 275
• Publication Date: 2015-11-20
• Subjects: cutaneous metastasis -- Langerhans cells -- oncology; Skin -- Diseases -- Periodicals; Dermatology -- Periodicals; 616
• DOI: 10.1111/cup.12636
• Languages: English
• ISSNs: 0303-6987

Abstract

Abstract : Langerhans cell histocytosis (LCH) and Erdheim‐Chester disease are two rare histiocytic disorders. Their occurrence in the same patient is more infrequent, but has been described. We report a case of a 38‐year‐old woman who presented with a diagnosis of single system cutaneous LCH. Subsequently, she developed multiple papules on her extremities consistent with a non‐LCH xanthogranuloma type lesion. BRAF V600E mutation immunostain, VE1 was positive in the skin lesion, which was confirmed by molecular polymerase chain reaction (PCR) studies, initiating a complete systemic workup for Erdheim‐Chester disease. Systemic involvement was confirmed with bilateral sclerotic bone lesions and retroperitoneal and pelvic fibrosing disease. She was also found to have a BRAF V600E mutation positive papillary thyroid carcinoma. New suspicious cutaneous lesions presenting in patients with a history of LCH need to be biopsied. A BRAF V600E mutation in a non‐LCH histiocytic lesion with a xanthogranuloma phenotype (CD163/CD68/CD14/fascin/Factor 13a) should prompt an Erdheim‐Chester disease workup. This is a unique case of a woman with BRAF V600E mutation positive Erdheim‐Chester disease and cutaneous LCH, while also being, to our knowledge, the first reported case in the English literature of it occurring in a patient with a BRAF V600E mutation positive papillary thyroid carcinoma.