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 tumor
CP angle tumor
NF1 R2517
NF1 R2517
MTOR E1799K
MTOR E1799K
CDKN2A p16INK4a P81L
CDKN2A p16INK4a P81L
EPHA3 D832N
EPHA3 D832N
ERBB4 E563K
ERBB4 E563K
FANCA R1084C
FANCA Q869,R1084C
FLT1 E72K
FLT1 E72K
GNAS P201L
GNAS P201L
IKZF1 splice site 851-1G>A
IKZF1 splice site 851-1G>A
LRP1B H2277Y, S1992F, splice site 13325-1G>A
LRP1B H2277Y,Q763, S1992F, splice site 13325-1G>A
MAGI2 E1166K
MAGI2 E1166K
NOTCH2 Q2325
NOTCH2 Q2325
PIK3CG D192N
PIK3CG D192N
SNCAIP E661K
SNCAIP E661K
SPTA1 R1281C, R1659
SPTA1Q1720, R1281C, R1659
TP53 S241F
TP53 S241F
Tumor mutation burden TMB-High; 186 muts/Mb
Tumor mutation burden TMB-High; 225 muts/Mb
FAM123B C635
ATM R3047
EGFR amplification
SLIT2 R617
TERT promoter -124C>T
Italic: identical mutations in parotid/CP angle. Bold: unique to parotid. Underline: unique to CP angle.