Conditions with germline predisposition to myeloid neoplasm that may progress to MDSa
| Conditions without clinical manifestations before the development of a myeloid neoplasm . |
|---|
| • DDX41-associated susceptibility to myeloid malignancies |
| • Li-Fraumeni syndrome, associated with germline TP53 mutations |
| Constitutional platelet disorders, characterized by thrombocytopenia and/or platelet dysfunction |
| • RUNX1-related familial platelet disorder |
| • ANKRD26-related thrombocytopenia |
| • ETV6-related thrombocytopenia |
| Inherited bone marrow failure syndromes |
| • Fanconi anemia |
| • Diamond-Blackfan anemia |
| • Shwachman-Diamond syndrome |
| • Dyskeratosis congenita (X-linked telomere disease) |
| • Other telomerase biology disorders |
| Miscellaneous syndromes featuring abnormalities of hematopoiesis and other organs |
| • GATA2-spectrum disorders (GATA2 deficiency syndrome) |
| • SAMD9-related MIRAGE syndrome |
| • SAMD9L-related ataxia-pancytopenia |
| • ERCC6L2-associated bone marrow failure syndrome |
| Conditions without clinical manifestations before the development of a myeloid neoplasm . |
|---|
| • DDX41-associated susceptibility to myeloid malignancies |
| • Li-Fraumeni syndrome, associated with germline TP53 mutations |
| Constitutional platelet disorders, characterized by thrombocytopenia and/or platelet dysfunction |
| • RUNX1-related familial platelet disorder |
| • ANKRD26-related thrombocytopenia |
| • ETV6-related thrombocytopenia |
| Inherited bone marrow failure syndromes |
| • Fanconi anemia |
| • Diamond-Blackfan anemia |
| • Shwachman-Diamond syndrome |
| • Dyskeratosis congenita (X-linked telomere disease) |
| • Other telomerase biology disorders |
| Miscellaneous syndromes featuring abnormalities of hematopoiesis and other organs |
| • GATA2-spectrum disorders (GATA2 deficiency syndrome) |
| • SAMD9-related MIRAGE syndrome |
| • SAMD9L-related ataxia-pancytopenia |
| • ERCC6L2-associated bone marrow failure syndrome |
Information is from Cazzola.1