Somatic mutations found in regions of 7q LOH patients by NGS
| Diagnosis . | SNP-A LOH on chromosome 7 . | Gene . | Mutation . |
|---|---|---|---|
| MDS/MPN (CMML) | UPD 7q11.21-qter | EZH2 | R690H |
| MDS/MPN (aCML) | UPD 7q32.1-qter | EZH2 | R690H |
| MDS (RCMD) | Del 7q21.3-qter | LMTK2A | A1147T |
| MDS (RCMD) | Monosomy 7 | NRCAM | Q1040K |
| AML | Del 7q21.12q36.3 | ZAN | N1098Del |
| AML | Monosomy 7 | GRM8 | A686V |
| AML | Monosomy 7 | ENSG00000133375 | R68Q |
| AML | Del 7q31.31-qter | LOC641808 | V162fs |
| AML | Monosomy 7 | SEMA3A | R613Q |
| AML | Del 7q31.1q36.3 | DYNC1I1 | R239W |
| AML | Monosomy 7 | HYAL4 | N253K |
| AML | Monosomy 7 | FAM40B | C182R |
| AML | Monosomy 7 | LOC100128744 | P354L |
| AML | Monosomy 7 | LUC7L2 | R252fs |
| AML | Del 7q21.11q36.3 | CTAGE6 | T288M |
| AML | Monosomy 7 | FAM115A | F193S |
| AML | Del 7q35-qter | CUL1 | E241D |
| AML | Monosomy 7 | EZH2 | E745fs |
| AML | Del 7q11.21q36.3 | EZH2 | R690H |
| AML | Monosomy 7 | SSPO | T426R |
| Diagnosis . | SNP-A LOH on chromosome 7 . | Gene . | Mutation . |
|---|---|---|---|
| MDS/MPN (CMML) | UPD 7q11.21-qter | EZH2 | R690H |
| MDS/MPN (aCML) | UPD 7q32.1-qter | EZH2 | R690H |
| MDS (RCMD) | Del 7q21.3-qter | LMTK2A | A1147T |
| MDS (RCMD) | Monosomy 7 | NRCAM | Q1040K |
| AML | Del 7q21.12q36.3 | ZAN | N1098Del |
| AML | Monosomy 7 | GRM8 | A686V |
| AML | Monosomy 7 | ENSG00000133375 | R68Q |
| AML | Del 7q31.31-qter | LOC641808 | V162fs |
| AML | Monosomy 7 | SEMA3A | R613Q |
| AML | Del 7q31.1q36.3 | DYNC1I1 | R239W |
| AML | Monosomy 7 | HYAL4 | N253K |
| AML | Monosomy 7 | FAM40B | C182R |
| AML | Monosomy 7 | LOC100128744 | P354L |
| AML | Monosomy 7 | LUC7L2 | R252fs |
| AML | Del 7q21.11q36.3 | CTAGE6 | T288M |
| AML | Monosomy 7 | FAM115A | F193S |
| AML | Del 7q35-qter | CUL1 | E241D |
| AML | Monosomy 7 | EZH2 | E745fs |
| AML | Del 7q11.21q36.3 | EZH2 | R690H |
| AML | Monosomy 7 | SSPO | T426R |
SNP-A indicates single nucleotide polymorphism array; LOH, loss of heterozygosity; Del, deletion; MDS/MPN, myelodysplastic syndrome/myeloproliferative neoplasm; CMML, chronic myelomonocytic leukemia; UPD, uniparental disomy; RCMD, refractory cytopenia with multilineage dysplasia; AML, acute myeloid leukemia; and aCML, atypical chronic myelogenous leukemia.