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. Author manuscript; available in PMC: 2021 Jun 17.
Published in final edited form as: Mod Pathol. 2019 Feb 13;32(7):957–966. doi: 10.1038/s41379-018-0163-y

Table 4.

Results of esophageal melanoma genotyping including Sanger sequencing of BRAF, KIT, and NRAS (15 cases) and all mutations identified by the Ion Torrent™ next-generation sequencing with Ion AmpliSeq™ Cancer Hotspot Panel v2 Kit (five cases) and Ion AmpliSeq™ Comprehensive Cancer Panel (three cases)

Gene
Case Methods ATR BRAF CDKN2B FBXW7 KIT KRAS NRAS MTOR SF3B1 TSC1
1 Ion AmpliSeq™ CCP Sanger sequencing WT WT WT WT WT WT WT WT WT p.H371Q
3 Sanger sequencing WT WT WT
5 Sanger sequencing WT WT WT
6 Ion AmpliSeq™ CHP Sanger sequencing NIP WT WT WT WT p.Q61K NIP NIP NIP
7 Ion AmpliSeq™ CHP Sanger sequencing NIP WT NIP p.R479G WT WT WT NIP NIP NIP
8 Ion AmpliSeq™ CHP Sanger sequencing NIP WT NIP WT WT WT p.A146T NIP NIP NIP
9 Ion AmpliSeq™ CHP Sanger sequencing NIP WT NIP WT WT WT p.Q61K NIP NIP NIP
10 Sanger sequencing WT WT WT
11 Sanger sequencing WT WT WT
12 Ion AmpliSeq™ CCP Sanger sequencing WT WT WT WT WT WT WT p.Q1684* p.R625C WT
14 Ion AmpliSeq™ CHP Sanger sequencing NIP WT NIP p.R465C WT p.G13C WT NIP NIP NIP
16 Sanger sequencing WT WT p.Q61H
17 Sanger sequencing WT WT WT
19 Sanger sequencing WT WT WT
20 Ion AmpliSeq™ CCP Sanger sequencing p.V372G WT p.D110N WT xp.L576P WT xxp.Q61K WT p.K666T WT

Complete next-generation sequencing data are provided in the Supplemental Table 2 and Supplemental Table 3

CCP Comprehensive Cancer Panel (409 gene targets), CHP Cancer Hotspot Panel v2 Kit (50 gene targets), NIP not included in this panel

x

next-generation sequencing result

xx

Sanger sequencing result