Adult xanthogranuloma with LMNA‐NTRK1 gene fusion – a possible driver of proliferation

Abstract

Adult xanthogranuloma with LMNA-NTRK1 gene fusion -a possible driver of proliferationDear Editors, Adult xanthogranuloma (AXG) is a rare disorder with a broad spectrum of clinical manifestations, ranging from benign skin-limited to malignant forms with systemic involvement. We present a case of multiple AXG (M-AXG), harboring an LMNA-NTRK1 gene fusion. In solid tumors, NTRK gene fusion can occur in up to 1 % and is reported in many different tumor types (e.g. secretory breast carcinoma, infantile fibrosarcoma). Since recently, diseases with NTRK gene alterations can be targeted with tyrosine kinase inhibitors (TKIs).

NTRK expression is common in xanthogranuloma and is associated with the solitary variant

“…In regards to xanthogranulomas, a case of multiple AXG harboring an LMNA–NTRK1 fusion has been reported 21 and six further cases with NTRK1 fusion are presented in Durham et al 22 However, NTRK and its role in JXG and AXG has yet to be further and fully characterized.…”

“…LMNA-NTRK1 fusion has been identified in a single patient with ECD, 10,14 IRF2BP2-NTRK1 fusion in a patient with disseminated progressive nodular histiocytosis, 19 and LMNA-NTRK1 fusion in a patient with generalized eruptive histiocytosis. 20 In regards to xanthogranulomas, a case of multiple AXG harboring an LMNA-NTRK1 fusion has been reported 21 and six further cases with NTRK1 fusion are presented in Durham et al 22 However, NTRK and its role in JXG and AXG has yet to be further and fully characterized.…”