Studies on the genetic changes occurring in AML at post-transplantation relapse
| Reference . | Disease . | N . | Analysis of macroalterations . | Mutational profiling . |
|---|---|---|---|---|
| Bacher et al68 | AML | 26 | Yes (by standard cytogenetics and FISH): new genomic macroalterations in 20/26 relapses | No |
| Waterhouse et al25 | AML | 21 | Yes (by SNP arrays): new genomic macroalterations in 16/21 relapses, FLT3-ITD CN-LOH in 1/21 | No |
| Quek et al22 | AML | 29 | Yes (by standard cytogenetics and FISH): new genomic macroalterations in 16/29 relapses | Yes (by targeted NGS panel): changes in mutational profile in 13/29 relapses, new mutations in TET2, NRAS, WT1, ETV6, RUNX1, DNMT3A, TP53, NPM1, IDH1, FLT3 ITD, PHF6 |
| Christopher et al24 | AML | 15 | No | Yes (by WES): changes in mutational profile in 13/15 relapses, new mutations in NRAS, FLT3, WT1, STAG2 |
| Vosberg et al27 | AML | 12 | No | Yes (by WES): new WT1 mutations in 6/12 relapses |
| Toffalori et al41 | AML | 12 | Yes (by SNP arrays): new genomic macroalterations in 7/12 relapses, FLT3-ITD CN-LOH in 2/12 | No |
| Hong et al21 | AML/MDS | 49 | No | Yes (by targeted NGS panel): changes in mutational profile in 46/49 relapses, new IDH1 mutations |
| Pagliuca et al69 | AML/MDS | 55 | No | Yes (by targeted NGS panel, including HLA genes): HLA mutations in 9/40 diagnoses and 17/44 relapses, variable changes in non–HLA genes |
| Wienecke et al23 | AML | 59 | No | Yes (by WES): changes in mutational profile in 28/59 relapses, mutations in spliceosome and epigenetic modifiers stable, in signal transduction genes unstable |
| Reference . | Disease . | N . | Analysis of macroalterations . | Mutational profiling . |
|---|---|---|---|---|
| Bacher et al68 | AML | 26 | Yes (by standard cytogenetics and FISH): new genomic macroalterations in 20/26 relapses | No |
| Waterhouse et al25 | AML | 21 | Yes (by SNP arrays): new genomic macroalterations in 16/21 relapses, FLT3-ITD CN-LOH in 1/21 | No |
| Quek et al22 | AML | 29 | Yes (by standard cytogenetics and FISH): new genomic macroalterations in 16/29 relapses | Yes (by targeted NGS panel): changes in mutational profile in 13/29 relapses, new mutations in TET2, NRAS, WT1, ETV6, RUNX1, DNMT3A, TP53, NPM1, IDH1, FLT3 ITD, PHF6 |
| Christopher et al24 | AML | 15 | No | Yes (by WES): changes in mutational profile in 13/15 relapses, new mutations in NRAS, FLT3, WT1, STAG2 |
| Vosberg et al27 | AML | 12 | No | Yes (by WES): new WT1 mutations in 6/12 relapses |
| Toffalori et al41 | AML | 12 | Yes (by SNP arrays): new genomic macroalterations in 7/12 relapses, FLT3-ITD CN-LOH in 2/12 | No |
| Hong et al21 | AML/MDS | 49 | No | Yes (by targeted NGS panel): changes in mutational profile in 46/49 relapses, new IDH1 mutations |
| Pagliuca et al69 | AML/MDS | 55 | No | Yes (by targeted NGS panel, including HLA genes): HLA mutations in 9/40 diagnoses and 17/44 relapses, variable changes in non–HLA genes |
| Wienecke et al23 | AML | 59 | No | Yes (by WES): changes in mutational profile in 28/59 relapses, mutations in spliceosome and epigenetic modifiers stable, in signal transduction genes unstable |
FISH, fluorescence in situ hybridization; NGS, next-generation sequencing; SNP, single nucleotide polymorphism; WES, whole-exome sequencing.