Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature

Figure 5

(a) Integrative genomics viewer image of aligned sequencing reads for exon 3 of MAP2K1 derived from enhanced exome sequencing. The top panel shows the comparator germline (peripheral blood) with the absence of the complex indel at an average of 591x depth for this region. The bottom panel shows the tumor tissue demonstrating an in-frame complex indel with an average of 433x depth for this region. (b) Sanger sequencing chromatogram of the in-frame MAP2K1 (NM_002755.4) complex indel (c.301_311delinsAATTC:p.Leu101_Lys104delinsAsnSer). The corresponding amino acid sequence is described below the genomic sequence. Italicized reference sequence in red indicates the deletion, and the italicized alternate sequence in blue indicates the insertion. (c) Lollipop plot of MAP2K1 variants deposited in cBioPortal. The p.Leu101_Lys104delinsAsnSer described in this report has not been previously reported.