Clinical and histopathologic features of 27 consecutive patients with an isolated trisomy 13 bone marrow karyotype
| Parameter . | Value . |
|---|---|
| Prevalence of isolated trisomy 13 clone in bone marrows with karyotypic analysis | |
| 27/22 882 patients | 0.12% (1988-present, Mayo Clinic series) |
| Karyotypic abnormality (n = 27 patients) | |
| Isolated trisomy 13 clone | 26 (96%)* |
| Clonal burden, median (range) % of metaphases with +13 | 24% (6.7%-100%) |
| >50% +13 metaphases | 41% |
| Median age, y (range) | 73 (25-87) |
| Sex (M/F) | 21/6 |
| Diagnosis at time of karyotype (n = 27 patients) | |
| Acute myeloid leukemia | 15 (56%) |
| M0 | 9 (33%) |
| M1 | 1 (4%) |
| M2 | 3 (11%) |
| M4 | 2 (7%) |
| Myelodysplastic syndrome | 9 (33%) |
| RAEB 1 and 2 | 7 (26%) |
| RCMD | 2 (7%) |
| Primary myelofibrosis | 1 (4%) |
| Chronic myelomonocytic leukemia | 1 (4%) |
| Normal morphology | 1 (4%) |
| Peripheral blood/exam studies at karyotype, median (range) | |
| Hemoglobin, g/dL | 9.0 (6.2-13.0) |
| Erythrocyte transfusion–dependent | 16 (60%) |
| Leukocytes, ×109/L | 5.3 (1.0-264.8) |
| Absolute neutrophil count | 1.51 (0.19-100.6) |
| Lymphocytes | 1.3 (0.4-10.5) |
| Monocytes | 0.3 (0-22.0) |
| Eosinophils | 0.04 (0-0.4) |
| Basophils | 0.01 (0.0-1.7) |
| Platelets, ×109/L | 87 (11-312) |
| Peripheral blood blasts | 15% (1%-80%) |
| Lactate dehydrogenase, U/L | 229 (2.9-933) |
| Splenomegaly present | 7 (26%) |
| Bone marrow morphologic findings | |
| Cellularity, median (range) | 80% (30%-100%) |
| Bone marrow blasts, median (range) | 21% (1%-94%) |
| Myelodysplastic changes | 15 (56%) |
| Reticulin fibrosis | 3 (11%) |
| Ringed sideroblasts | 3 (11%) |
| Survival from diagnosis/date karyotype obtained | |
| Follow-up duration, mos, median (range) | 5.8 (0.5-24) |
| Status = expired as of last follow-up | 82% |
| Parameter . | Value . |
|---|---|
| Prevalence of isolated trisomy 13 clone in bone marrows with karyotypic analysis | |
| 27/22 882 patients | 0.12% (1988-present, Mayo Clinic series) |
| Karyotypic abnormality (n = 27 patients) | |
| Isolated trisomy 13 clone | 26 (96%)* |
| Clonal burden, median (range) % of metaphases with +13 | 24% (6.7%-100%) |
| >50% +13 metaphases | 41% |
| Median age, y (range) | 73 (25-87) |
| Sex (M/F) | 21/6 |
| Diagnosis at time of karyotype (n = 27 patients) | |
| Acute myeloid leukemia | 15 (56%) |
| M0 | 9 (33%) |
| M1 | 1 (4%) |
| M2 | 3 (11%) |
| M4 | 2 (7%) |
| Myelodysplastic syndrome | 9 (33%) |
| RAEB 1 and 2 | 7 (26%) |
| RCMD | 2 (7%) |
| Primary myelofibrosis | 1 (4%) |
| Chronic myelomonocytic leukemia | 1 (4%) |
| Normal morphology | 1 (4%) |
| Peripheral blood/exam studies at karyotype, median (range) | |
| Hemoglobin, g/dL | 9.0 (6.2-13.0) |
| Erythrocyte transfusion–dependent | 16 (60%) |
| Leukocytes, ×109/L | 5.3 (1.0-264.8) |
| Absolute neutrophil count | 1.51 (0.19-100.6) |
| Lymphocytes | 1.3 (0.4-10.5) |
| Monocytes | 0.3 (0-22.0) |
| Eosinophils | 0.04 (0-0.4) |
| Basophils | 0.01 (0.0-1.7) |
| Platelets, ×109/L | 87 (11-312) |
| Peripheral blood blasts | 15% (1%-80%) |
| Lactate dehydrogenase, U/L | 229 (2.9-933) |
| Splenomegaly present | 7 (26%) |
| Bone marrow morphologic findings | |
| Cellularity, median (range) | 80% (30%-100%) |
| Bone marrow blasts, median (range) | 21% (1%-94%) |
| Myelodysplastic changes | 15 (56%) |
| Reticulin fibrosis | 3 (11%) |
| Ringed sideroblasts | 3 (11%) |
| Survival from diagnosis/date karyotype obtained | |
| Follow-up duration, mos, median (range) | 5.8 (0.5-24) |
| Status = expired as of last follow-up | 82% |
Acute myeloid leukemia subtypes (using World Health Organization criteria). RAEB indicates refractory anemia with excess blasts; and RCMD, refractory cytopenia with multilineage dysplasia (both using World Health Organization criteria).
One patient also had a separate clone of trisomy 8.