Adult-onset Langerhans cell histiocytosis of bone: A case series highlighting a rare entity

Abstract

Langerhans cell histiocytosis (LCH) is a neoplastic disorder derived from LCH precursor cells that can manifest as a single-system disease or a multisystem disorder. While extensively studied in children, LCH has received less attention in adult patients. We aimed to investigate the pathology and clinical course of LCH in adults presenting with a bone lesion. Cases of osseous LCH diagnosed in patients ≥18 in our center were analyzed. Histologic slides were reviewed, and clinical data were collated. Molecular analysis for BRAF mutation was performed in a subset. Twelve osseous LCH cases with classic morphology and CD1a+/S100+ immunophenotype were identified. Tumors occurred in six females and five males with a median age of 34 years (range: 18–77 years) and involved the craniofacial bones (4), pelvis (3), spine (2), appendicular skeleton (2), and rib (1). Radiographically, tumors appeared as ill-defined lytic lesions, often accompanied by cortical erosion and soft tissue extension, with pain being the most common presentation. On staging work-up with available data, two patients had multifocal bone lesions, two had multi-system disease, and four had solitary lesions. Two patients had prior or concurrent neoplasms, and 63 % of patients (5 out of 8) had a history of smoking. BRAF mutational analysis performed in six cases revealed a BRAFV600E mutation in one, negative result in one, and failed in four archived specimens. Our study highlights the importance of performing staging in patients with adult-onset LCH presenting as a bone lesion, as the clinical extent of the disease can vary widely among individuals.