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Langerhans cell histiocytosis and Erdheim‐Chester disease, both with cutaneous presentations, and papillary thyroid carcinoma all harboring the BRAF V600E mutation
Author(s) -
Johnson William T.,
Patel Parth,
Hernandez Amanda,
Grandinetti Lisa M.,
Huen Arthur C.,
Marks Stanley,
Ho Jonhan,
Monaco Sara E.,
Jaffe Ronald,
Picarsic Jennifer
Publication year - 2016
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.12636
Subject(s) - erdheim–chester disease , medicine , langerhans cell histiocytosis , pathology , histiocytosis , histiocyte , v600e , thyroid carcinoma , thyroid , mutation , disease , biology , biochemistry , gene
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.