Generalized eruptive histiocytosis associated with a novel fusion in LMNA-NTRK1.
Non-Langerhans cell histiocytosis (NLCH) is a histiocyte disorder comprised of dermal dendritic histiocytes with a characteristic staining pattern. Erdheim-Chester disease (ECD) is a subset of NLCH in which patients experience bone pain with corresponding changes on imaging. In addition, these patients show other evidence of systemic involvement, which can also be identified with imaging. This disease can occasionally present with cutaneous findings. We present a case of generalized eruptive histiocytosis (GEH), misdiagnosed as ECD, found to have an NTRK1 gene rearrangement. This is the first report of an NTRK1 kinase fusion with NLCH. The implication is unclear and further studies are warranted.
University of Texas Health Sciences Center at Houston-UT Health, Dept. of Dermatology. Sarah.A.Sweeney@uth.tmc.edu.
Sarah S
SS
Pinney
Richard R
RR
Jahan-Tigh
Susan
S
Chon
D000328:Adult; D001415:Back; D050939:Gene Fusion / Q000235:genetics; D015616:Histiocytosis, Non-Langerhans-Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D020917:Receptor, trkA / Q000235:genetics*
C494847:LMNA protein, human; D034904:Lamin Type A; D020917:Receptor, trkA