Figure 1.
Age-dependent presentation of myeloid malignancy in inherited bone marrow failure and MDS predisposition syndromes. A schematic demonstrating the typical and peak ages of myeloid malignancy diagnosis in individuals with inherited bone marrow failure and MDS predisposition syndromes. There is an age-dependent onset depending on the underlying genetic cause that informs approaches to surveillance and patient counseling. Schema is based on a comprehensive review of myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML) cases reported in the literature in individuals with confirmed germline predisposition. The reported incidence of MDS/AML in these disorders is impacted by rates of hematopoietic stem cell transplant for bone marrow failure and other competing risks, such as pulmonary fibrosis in the short telomere syndromes which accounts for the drop off of MDS/AML diagnosed in older ages. Horizontal lines demonstrate the published age range where there are isolated cases at those age extremes. Queried publications are referenced in reference 13 in addition to references 23, 51, and 72 and PubMed IDs 32088370, 30578959, and 34469508. *Autosomal recessive inheritance is rarely found in the short telomere syndromes (<5%) and more often manifests as aplastic anemia with few reports of MDS/AML in these individuals. AD, autosomal dominant; AR, autosomal recessive; XL, X-linked.

Age-dependent presentation of myeloid malignancy in inherited bone marrow failure and MDS predisposition syndromes. A schematic demonstrating the typical and peak ages of myeloid malignancy diagnosis in individuals with inherited bone marrow failure and MDS predisposition syndromes. There is an age-dependent onset depending on the underlying genetic cause that informs approaches to surveillance and patient counseling. Schema is based on a comprehensive review of myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML) cases reported in the literature in individuals with confirmed germline predisposition. The reported incidence of MDS/AML in these disorders is impacted by rates of hematopoietic stem cell transplant for bone marrow failure and other competing risks, such as pulmonary fibrosis in the short telomere syndromes which accounts for the drop off of MDS/AML diagnosed in older ages. Horizontal lines demonstrate the published age range where there are isolated cases at those age extremes. Queried publications are referenced in reference 13 in addition to references 23, 51, and 72 and PubMed IDs 32088370, 30578959, and 34469508. *Autosomal recessive inheritance is rarely found in the short telomere syndromes (<5%) and more often manifests as aplastic anemia with few reports of MDS/AML in these individuals. AD, autosomal dominant; AR, autosomal recessive; XL, X-linked.

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