Table 1 Characteristics and genomic alterations of juvenile xanthogranuloma cases
JXG ID | Lesion type | Sex | Age | Biopsy site | CNA/LOH | Clonal burden | Genomic coordinates (GRCh37/hg19) | Genome involvement |
|---|---|---|---|---|---|---|---|---|
1 | Extensive cutaneous with ocular involvement | Male | 1y | A: Abdomen B: Right arm | Lesion A: +5,+17 Lesion B: LOH 5q13.2-q35.3 | A: 50% B: 35% | A: Trisomy 5, Trisomy 17 B: Chr5:70,306,678-180,698,312 | 8.47% |
2 | Systemic | Female | 49y | Right upper arm/Right femoral mass (lymph node) | LOH 1p36.33-p36.31 LOH 6p25.3-p21.2 LOH 9p24.3-p13.3 LOH 16p13.3-p12.3 LOH 19p13.3 Gain 7q21.11-q32.3 Loss 10q23.1-q25.1 Loss 19p13.3-p13.2 | 15% | Chr1:1-19,679,873 Chr6:1-36,766,292 Chr9:1-35,482,075 Chr16:1-17,469,494 Chr19:1-4,669,675 Chr7:89,719,729-132,706,981 Chr10:84,918,329-109,814,480 Chr19:4,674,113-13,752,280 | 6.49% |
3 | Solitary cutaneous | Female | 12y | Right elbow | Gain 1q21.1-q32.1 Gains 11q11-q13.4 11q23.1-q23.3 11q24.1-q25 | 40% | Chr1:144,009,053-249,212,878 Chr11:54,795,357-73,167,739 Chr11:110,777,257-120,067,082 Chr11:123,471,031-134,938,847 | 3.26% |
4 | Solitary cutaneous | Female | 9y | Columella | Loss 3p21.31-p21.1 | 25% | Chr3:45,170,095-52,338,852 | 0.23% |
5 | Solitary cutaneous | Female | 3y | Right Lower Eyelid | – | – | N/A | N/A |
6 | Solitary cutaneous | Female | 3y | Left thigh Mass | – | – | N/A | N/A |
7 | Solitary cutaneous | Male | 4y | Right scalp | – | – | N/A | N/A |
8 | Solitary cutaneous | Male | 1y | Right Abdomen | – | – | N/A | N/A |
9 | Solitary cutaneous | Female | 1y | Right scalp | – | – | N/A | N/A |
10 | Solitary cutaneous | Female | 20y | Left inner buttock | – | – | N/A | N/A |
11 | Solitary cutaneous | Male | 2y | Right forehead | – | – | N/A | N/A |
12 | Solitary cutaneous | Female | 1y | Posterior scalp | – | – | N/A | N/A |
13 | Solitary cutaneous | Female | 1y | Left mid back | – | – | N/A | N/A |
14 | Solitary cutaneous | Male | 19y | Right chin | – | – | N/A | N/A |
15 | Solitary cutaneous | Female | 11 m | Right lower posterior leg | – | – | N/A | N/A |
16 | Solitary cutaneous | Male | 1y | Left inner thigh | – | – | N/A | N/A |
17 | Solitary cutaneous | Male | 31y | Left thigh | – | – | N/A | N/A |
18 | Solitary cutaneous | Female | 2y | Left cheek | – | – | N/A | N/A |
19 | Solitary cutaneous | Female | 15y | Thigh | – | – | N/A | N/A |
20 | Solitary cutaneous | Female | 60y | Right nasal vestibule | – | – | N/A | N/A |
21 | Solitary cutaneous | Female | 16y | Abdominal wall | – | – | N/A | N/A |
