International Journal of Clinical Pediatrics, ISSN 1927-1255 print, 1927-1263 online, Open Access
Article copyright, the authors; Journal compilation copyright, Int J Clin Pediatr and Elmer Press Inc
Journal website http://www.theijcp.org

Case Report

Volume 3, Number 1, March 2014, pages 22-28

Next Generation Sequencing in Differential Diagnosis of Childhood Melanoma From Spitz Nevus: A Case Report

Figures

Figure 1.
Figure 1. (a) Low-power image of H&E-stained section showing polypoid melanocytic neoplasm (H&E stain, × 40).(b) High-power image showing melanocytes with marked cytological atypia and pagetoid spread (H&E stain, × 400).
Figure 2.
Figure 2. (a) Florescence in situ hybridization (FISH) image of aqua channel showing increased copy numbers of MYC (8q24). (b) FISH image of red channel showing heterozygous deletion of CDKN2A (9p21). (c) FISH image of aqua channel showing heterozygous deletion of PTEN (10p23). (d) FISH image of yellow channel showing increased copy numbers of BRAF (7p34).

Table

Table 1. Top Gene Mutations in Melanocytic Lesions and NGS 12 Gene Panel for the Pediatric Melanoma Case
 
Top Gene Mutations in Melanocytic Lesions Reported to COSMIC
BRAF (7q34)HRAS (11p15)KRAS (12p12)NRAS (1p13)TP53 (17p13)PTEN (10q23)CDKN2A (9p21)APC (5q21)KDR (4q12)KIT (4q12)CTNNB1 (3p22)RET (10q11)
Melanoma (all, WGS)45%< 4%< 4%20%13%6%6%5%4%4%No dataNo data
Superficial spreading43%3%2%24%42%15%27%**7%10%*
Spizoid melanoma27%1%No data9%No dataNo data*No dataNo data*No dataNo data
Benign neviA6-68%0-14%0-11%3-55%*****0%No dataNo data
Spitz nevi6%23%*2%No dataNo data7%No dataNo dataNo dataNo dataNo data
Next Generation Sequencing 12 Gene Panel for the Pediatric Melanoma Case
AGain threshold: 1.2. Loss threshold: 0.8. *Too few cases studied to estimate percentage. Average of all values: 1.09. BBlue, compound, congenital, intradermal, junctional, lentiginous, not specified.
MutationYesNoNoNoNoNoNoNoNoNoNoNo
Copy number normalized ratio1.61.00.90.80.90.80.81.11.00.91.00.9
Copy number predictedB422121122222