Skip to main content

Table 1 Genetic variants detected via next-generation sequencing of pre-treatment and treatment-resistant tumor specimens

From: Secondary resistance to immunotherapy associated with β-catenin pathway activation or PTEN loss in metastatic melanoma

Baseline (pre-treatment) biopsy

Treatment-resistant biopsy

Variants detected (NGS platform: OncoScreen ST2.0)

Variants detected (NGS platform: OncoPlus)

Pathogenic variants

Pathogenic variants

BRAF c.1799 T > A, p.V600E

BRAF c.1799 T > A, p.V600E

CDKN2A loss

CDKN2A loss

BRAF amplification

BRAF amplification


PTEN loss


Variants of indeterminate clinical significance


APC c.385G > C, p.E129Q


APC c.6211A > G, p.I2071V


PTCH1 c.3641C > T, p.T1214 M


RET c.2939 + 6C > T




H3F3A Loss




PALB2 Loss Equivocal


RAD51 Loss Equivocal


RET Loss


TSC1 Loss Equivocal


TSC2 Loss Equivocal

  1. Abbreviations: NGS next-generation genomic sequencing, c. cDNA alteration, p., protein alteration