Figure 2

Genomic profiles of 21 juvenile xanthogranuloma cases. Copy number alterations were identified in five specimens from four patients (JXG-1–4). (a) Non-recurrent copy number alterations in two lesions from disseminated juvenile xanthogranuloma. JXG-1a (left) showed trisomy 5 and trisomy 17 (blue arrows). JXG-1b (right) showed copy neutral-loss of heterozygosity in chromosome 5q (yellow arrow). (b) Systemic juvenile xanthogranuloma (JXG-2) with complex genomic profile including copy neutral-loss of heterozygosity in 1p, 6p, 9p, 16p and 19p (yellow arrows), a gain in 7q (blue arrow), and losses in 10q and 19p (red arrows). (c) Solitary cutaneous lesion (JXG-3) with gains in 1q and 11q. (d) Solitary cutaneous lesion (JXG-4) with a loss in 3p. (e) Whole genome view of this cohort. Five lesions (cases 1–4) contained genomic alterations (red=single copy loss, blue=single copy gain, yellow=LOH). The remaining 17 cases (all solitary cutaneous juvenile xanthogranuloma) had normal diploid genomes. Chromosomes represented in order (1-22,X,Y) by individual columns.