![Histopathologic and molecular characterization of short telomere MDS/AML. (A) Hypoplastic MDS (MDS with multilineage dysplasia; biopsy [hematoxylin-and-eosin stain (H&E); original magnification ×10]). (B) Multilineage dysplasia involving the myeloid (red arrows), erythroid (green arrow; aspirate [Wright-Giemsa stain; original magnification ×100]) and (C) megakaryocytic (yellow arrows; biopsy [H&E; original magnification ×40]) lineages. (D) MDS (MDS with ring sideroblasts and multilineage dysplasia; biopsy [H&E; original magnification ×10]). (E) Multilineage dysplasia involving the erythroid lineage (green arrows; aspirate [Wright-Giemsa stain; original magnification ×100]) with (F) abundant ring sideroblasts (aspirate [iron stain; original magnification ×100x]). Rare blasts (G, black arrow; Wright-Giemsa stain; original magnification ×100) are seen, and megakaryocytes (H) are also dysplastic (yellow arrows; H&E; original magnification ×40). (I) Hypoplastic AML (AML with myelodysplasia-related changes; biopsy [H&E; original magnification ×10]). Increased blasts (J, ∼70%) with background multilineage dysplasia involving the myeloid (K, red arrows) and erythroid (L, green arrows) lineages (aspirate [Wright-Giemsa stain; original magnification ×100]). (M) Hypoplastic AML (AML with myelodysplasia-related changes; biopsy [H&E; original magnification ×10]). Increased blasts (N; ∼50%) with background multilineage dysplasia involving the myeloid (O, red arrows) and erythroid (P, green arrow) lineages (aspirate [Wright-Giemsa stain; original magnification ×100]). (Q) Pie chart showing the distribution of karyotypes of 18 MDS/AML cases. Monosomy 7 abnormalities are listed on the left. (R) Somatic mutation profile of age-matched short telomere patients separated by those with (9 male/5 female) and without (11 male/9 female) MDS/AML. The age for each patient is included on top as is the presence of a monosomy 7 abnormality [−7, del(7q) or der(1;7)(q10;p10)]. All sequencing was performed on blood, except for the 2 AML cases (denoted as bolded ages) for which bone marrow was used. The ring sideroblasts (defined as >15% of cells examined) are denoted below the MDS/AML cases by an asterisk (*). Of note, another patient (of a total of 7) had ring sideroblasts but was not included in this analysis because of insufficient DNA. The respective germline mutations for each case are annotated in supplemental Figure 1A.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/135/22/10.1182_blood.2019003264/5/bloodbld2019003264f2.png?Expires=1743231596&Signature=E79Rh4ESVZ6nT2INPS6j-VQZwrJDzjz0Rl0koFpwBXcDvJl6xDej0SM~GfMoe0JCYTwLZjTW~~AHuyxviXgUbmR92un3-WR5-n6gQehfc-8HYYWcWRxn8azmk8O~7oyv7iNarflQw7mkWXmpa2EI-mG35QsS-zQrHV5XaVi-td1eP6~nMPlA6JPvhftWptqW8B-if0RCq5WsdCEytsFADXH1g8xUjongIk5brEMCrDXhd~0KMUSWUsl5acXPzIGyCsHqq3dXKNqUNNyauV2BIn~dX6gXgnEc2V343iz~v57k-qQQ7y3SC98nwbmpqAVYziWcYbKgFzymzfZKszYaqw__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
Histopathologic and molecular characterization of short telomere MDS/AML. (A) Hypoplastic MDS (MDS with multilineage dysplasia; biopsy [hematoxylin-and-eosin stain (H&E); original magnification ×10]). (B) Multilineage dysplasia involving the myeloid (red arrows), erythroid (green arrow; aspirate [Wright-Giemsa stain; original magnification ×100]) and (C) megakaryocytic (yellow arrows; biopsy [H&E; original magnification ×40]) lineages. (D) MDS (MDS with ring sideroblasts and multilineage dysplasia; biopsy [H&E; original magnification ×10]). (E) Multilineage dysplasia involving the erythroid lineage (green arrows; aspirate [Wright-Giemsa stain; original magnification ×100]) with (F) abundant ring sideroblasts (aspirate [iron stain; original magnification ×100x]). Rare blasts (G, black arrow; Wright-Giemsa stain; original magnification ×100) are seen, and megakaryocytes (H) are also dysplastic (yellow arrows; H&E; original magnification ×40). (I) Hypoplastic AML (AML with myelodysplasia-related changes; biopsy [H&E; original magnification ×10]). Increased blasts (J, ∼70%) with background multilineage dysplasia involving the myeloid (K, red arrows) and erythroid (L, green arrows) lineages (aspirate [Wright-Giemsa stain; original magnification ×100]). (M) Hypoplastic AML (AML with myelodysplasia-related changes; biopsy [H&E; original magnification ×10]). Increased blasts (N; ∼50%) with background multilineage dysplasia involving the myeloid (O, red arrows) and erythroid (P, green arrow) lineages (aspirate [Wright-Giemsa stain; original magnification ×100]). (Q) Pie chart showing the distribution of karyotypes of 18 MDS/AML cases. Monosomy 7 abnormalities are listed on the left. (R) Somatic mutation profile of age-matched short telomere patients separated by those with (9 male/5 female) and without (11 male/9 female) MDS/AML. The age for each patient is included on top as is the presence of a monosomy 7 abnormality [−7, del(7q) or der(1;7)(q10;p10)]. All sequencing was performed on blood, except for the 2 AML cases (denoted as bolded ages) for which bone marrow was used. The ring sideroblasts (defined as >15% of cells examined) are denoted below the MDS/AML cases by an asterisk (*). Of note, another patient (of a total of 7) had ring sideroblasts but was not included in this analysis because of insufficient DNA. The respective germline mutations for each case are annotated in supplemental Figure 1A.