Additional file 2: of Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents
presentation
posted on 2019-01-07, 05:00 authored by Riccardo Ricci, Maurizio Martini, Gloria Ravegnini, Tonia Cenci, Massimo Milione, Paola Lanza, Francesco Pierconti, Donatella Santini, Sabrina Angelini, Alberto Biondi, Fausto Rosa, Sergio Alfieri, Gennaro Clemente, Roberto Persiani, Alessandra Cassano, Maria Pantaleo, Luigi LaroccaFigure S2. Chromatogram showing the SDHx mutations found in GISTs (T) and in normal tissue (N) in cases 42–48. Case 42: heterozygous SDHA exon 5 mutation in normal tissue and homozygous in GIST. Case 43: somatic heterozygous SDHA exons 1 and 13 mutations in GIST. Case 44: somatic heterozygous SDHA exon 9 mutation in GIST. Case 45: somatic homozygous SDHA exon 10 mutation in GIST. Case 46: somatic homozygous SDHB exon 6 mutation in GIST. Case 47: somatic heterozygous SDHC exon 4 mutation in GIST. Case 48: heterozygous SDHA exon 9 mutation in GIST (germline not tested). (SDHx mutations found in cases 40 and 41 have been previously reported—see ref. [26] of the main text). (PPTX 1802 kb)
