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Table 1 List of mutations identified in next-generation sequencing with potential treatments, adapted from the patient’s FoundationOne® report

From: Metastatic squamous cell carcinoma of the skin with clinical response to lapatinib

Mutation

Description

Potential treatmentsa

ERBB3

R135C

Lapatinib, trastuzumab, afatinib, pertuzumab, ado-trastuzumab emtansine

NF2

Q400

Everolimus, temsirolimus, FAK inhibitors, lapatinib, trametinib

CDKN2A

P16INK4a D84Y and p14ARF 98L

Abemaciclib, ribociclib, palbociclib

CARD11

R888C

NF-kB inhibitors

FAT1

C3738fs*12

 

LRP1B

G4199E

 

RUNX1T1

R394W

 

TERT promoter

− 139_− 138 CC > TT

 

TP53

R196*, R282W

AZD1775, APR-246, SGT-53, CHK1 inhibitor with irinotecan, kevetrin

  1. In the FAT1 and TP53 mutations, the “*” denotes a mutation in a stop codon. In the FAT1 mutation, “fs” denotes a frameshift mutation. In the TERT promoter mutation, “−” denotes the affected nucleotide, “_” denotes the range of affected residues, and “>” denotes a substitution mutation
  2. a Not all listed treatments are FDA-approved and some are drawn from data found in preclinical and/or early clinical studies