Case Report
ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial
Table 2
Characteristics of AML/MDS predisposition syndromes.
| Disease | Clinical characteristics | Mutated gene | Pattern of inheritance | Penetrance |
| Familial AML with mutated CEBPA | AML | CEBPA | AD | ≈100% | Myeloid neoplasm with germline DDX41 mutation | MDS/AML | DDX41 | AD | Unknown | Familial platelet disorder/AML | MDS/AML/T cell ALL, lifelong thrombocytopenia, bleeding propensity | RUNX1 | AD | 40% | Thrombocytopenia and predisposition to myeloid malignancies | Thrombocytopenia, platelet dysfunction, MDS/AML | ANKRD26 | AD | Unknown | Myeloid neoplasm with germline ETV6 mutation | Thrombocytopenia, platelet dysfunction, MDS/AML | ETV6 | AD | ≈100% | Familial MDS/AML with mutated GATA2 | MDS/AML, MonoMAC syndrome, Emberger syndrome | GATA2 | AD | 70% | Telomere biology disorders | MDS/AML, macrocytosis, mild to moderate single or multiple cytopenias, aplastic anemia | TERT, TERC | AD | Variable | Bone marrow failure associated with SRP72 mutations | Aplastic anemia, MDS | SRP72 | AD | Unknown |
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AML = acute myeloid leukemia; MDS = myelodisplastic syndrome; AD = autosomic dominant.
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