title: Langerhans cell histiocytosis and Erdheim-Chester disease, both with cutaneous presentations, and papillary thyroid carcinoma all harboring the BRAF(V600E) mutation.
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.
authors.affiliation: Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.|Department of Medicine, Lankenau Medical Center, Wynnewood, PA, USA.
authors.forename: William T
authors.initials: WT
authors.lastname: Johnson
authors.affiliation: University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors.forename: Parth
authors.initials: P
authors.lastname: Patel
authors.affiliation: Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Amanda
authors.initials: A
authors.lastname: Hernandez
authors.affiliation: Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Grandinetti
authors.affiliation: Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Arthur C
authors.initials: AC
authors.lastname: Huen
authors.affiliation: Department of Hematology/Oncology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Stanley
authors.initials: S
authors.lastname: Marks
authors.affiliation: Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Jonhan
authors.initials: J
authors.lastname: Ho
authors.affiliation: Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Sara E
authors.initials: SE
authors.lastname: Monaco
authors.affiliation: Department of Pathology, Magee Womens Hospital, Pittsburgh, PA, USA.
authors.forename: Ronald
authors.initials: R
authors.lastname: Jaffe
authors.affiliation: Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Picarsic
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002277:Carcinoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002291:Carcinoma, Papillary; D031249:Erdheim-Chester Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005260:Female; D006646:Histiocytosis, Langerhans-Cell / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D020125:Mutation, Missense; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics / Q000378:metabolism; D012878:Skin Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Langerhans cells; cutaneous metastasis; oncology