Cytogenetic changes and somatic mutations associated with germline predisposition syndromes
| Cytogenetic or molecular abnormalities . | Associated syndromes . |
|---|---|
| +1q | Fanconi anemia |
| 3q amplification | Fanconi anemia |
| Iso7q | Shwachman-Diamond syndrome |
| Monosomy 7/del7q | Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome, acquired aplastic anemia, SAMD9/SAMD9L, other |
| 7q CN-LOH | SAMD9/SAMD9L |
| der(1;7)(q10;p10) | GATA2 |
| Trisomy 8 | Acquired aplastic anemia, trisomy 8 mosaicism, GATA2 |
| Del13q | Acquired aplastic anemia |
| +13q | Fanconi anemia |
| Del20q | Shwachman-Diamond syndrome, Fanconi anemia |
| Trisomy 21 | Down syndrome, severe congenital neutropenia, GATA2 |
| -Y | Fanconi anemia |
| ASXL1, SETBP1, STAG2, other | GATA2 |
| CSF3R | ELANE |
| RUNX1 | Fanconi anemia, RUNX1, GATA2 |
| SAMD9/SAMD9L | SAMD9/SAMD9L |
| TP53 | Shwachman-Diamond syndrome, Li-Fraumeni syndrome |
| DNMT3A | MBD4 |
| Cytogenetic or molecular abnormalities . | Associated syndromes . |
|---|---|
| +1q | Fanconi anemia |
| 3q amplification | Fanconi anemia |
| Iso7q | Shwachman-Diamond syndrome |
| Monosomy 7/del7q | Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome, acquired aplastic anemia, SAMD9/SAMD9L, other |
| 7q CN-LOH | SAMD9/SAMD9L |
| der(1;7)(q10;p10) | GATA2 |
| Trisomy 8 | Acquired aplastic anemia, trisomy 8 mosaicism, GATA2 |
| Del13q | Acquired aplastic anemia |
| +13q | Fanconi anemia |
| Del20q | Shwachman-Diamond syndrome, Fanconi anemia |
| Trisomy 21 | Down syndrome, severe congenital neutropenia, GATA2 |
| -Y | Fanconi anemia |
| ASXL1, SETBP1, STAG2, other | GATA2 |
| CSF3R | ELANE |
| RUNX1 | Fanconi anemia, RUNX1, GATA2 |
| SAMD9/SAMD9L | SAMD9/SAMD9L |
| TP53 | Shwachman-Diamond syndrome, Li-Fraumeni syndrome |
| DNMT3A | MBD4 |
CN-LOH, copy neutral loss of heterozygosity.
These cytogenetic changes and somatic mutations are not specific to MDS predisposition syndromes.