Case Report

Melanoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Spread to the Cerebellopontine Angle: Utility of Next-Generation Sequencing in Diagnosis

Table 1

Genomic alterations in the parotid-region and CP angle tumors.

Parotid-region tumorCP angle tumor

NF1 R2517NF1 R2517
MTOR E1799KMTOR E1799K
CDKN2A p16INK4a P81LCDKN2A p16INK4a P81L
EPHA3 D832NEPHA3 D832N
ERBB4 E563KERBB4 E563K
FANCA R1084CFANCA Q869, R1084C
FLT1 E72KFLT1 E72K
GNAS P201LGNAS P201L
IKZF1 splice site 851-1G>AIKZF1 splice site 851-1G>A
LRP1B H2277Y, S1992F, splice site 13325-1G>ALRP1B H2277Y,  Q763, S1992F, splice site 13325-1G>A
MAGI2 E1166KMAGI2 E1166K
NOTCH2 Q2325NOTCH2 Q2325
PIK3CG D192NPIK3CG D192N
SNCAIP E661KSNCAIP E661K
SPTA1 R1281C, R1659SPTA1  Q1720, R1281C, R1659
TP53 S241FTP53 S241F
Tumor mutation burden TMB-High; 186 muts/MbTumor mutation burden TMB-High; 225 muts/Mb
FAM123B C635ATM R3047
EGFR amplificationSLIT2 R617
TERT promoter -124C>T

Italic: identical mutations in parotid/CP angle.
Bold: unique to parotid.
Underline: unique to CP angle.