Table 1.
Summary of published cases of hematological disorders with concomitant presence of del(5q) and JAK2V617F mutation treated with lenalidomide
| Ref | Age/sex | Diagnosis | Previous treatment | Lenalidomide | Hb pre/post (g/L) | Platelet count pre/post (×109/L) | Splenomegaly | Cytogenetics pre/post (% abnormal metaphases) | JAK2V617F pre/post (% allele burden) | Bone marrow pre/post | Duration of response |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19 | 85/F | MDS | Transfusions | 10 mg/day for 21 days every 28 days plus aspirin | 79*/129 | 971/161 | No | Isolated del(5q) 90/24 | Positive°/not reported | Increased cellularity with hypolobated megakaryocytic hyperplasia, ring sideroblasts not reported/normocellular with 30% of normal megakaryocytes and mild eosinophil increase | >9 months |
| 20 | 54/F | MDS, low IPSS risk | Hydroxycarbamide | 10 mg/day for 21 days every 28 days plus G-CSF | 88*/127 | 1,482/110 | No | Isolated del(5q) 75/0 | 18.74/0.017 | Rich cellularity with moderate trilineage dysplasia, erythroid hypoplasia, and outstanding large mononuclear megakaryocytic hyperplasia, no ring sideroblasts/normal cellularity and morphology | >15 months |
| This case report | 85/M | MDS with isolated del(5q) and JAK2V617F | Transfusions Hydroxycarbamide Pipobroman, anagrelide | 10 mg/day for 21 days every 28 days | 66*/116 | 1,021/186 | No | Isolated del(5q) 25/0 | 26.28/0 | High cellularity with most megakaryocytes resembling “5q-syndrome”, no significant increase of reticulin network, no sideroblasts/reduction of atypical megakaryocytes, decrease of cellularity, focal polyclonal lymphocytes | >23 months |
| 21 | 82/F | AML from MDS | None | 10 mg/day | 99/“normal” | Not reported/“normal” | Not reported | Isolated del(5q) 55/0 | Positive°/not reported | 34% myeloblasts/5% myeloblasts | 5 months |
| 22 | 75/M | Post-PV MF | Phlebotomy | 10 mg/day for 6 months | 94/156 | 831/101 | Yes/reduced after lenalidomide | Isolated del(5q) 100/0 | 4/<1 | Post-PV MF/resolution of hypercellularity, abnormal megakaryopoiesis, and myelofibrosis | 21 months^ |
| 22 | 69/F | Post-PV MF | Phlebotomy Hydroxycarbamide Interferon | 10 mg/day, then 5 mg/day | 121/149 | 130/120 | Yes/reduced after lenalidomide | Complex karyotype including monosomy 5 95/55 | >80/8 | Cellularity 90%, reticulin fibrosis 3+/cellularity 60%, reticulin fibrosis 1–2+ | >12 months |
| 22 | 63/M | PMF | Recombinant human erythropoietin | 10 mg/day, then 5 mg/day | TD/145 | 351/160 | No | Isolated del(5q) 85/30 | 4/4 | Cellularity 80%, reticulin fibrosis 3+/cellularity 50%, reticulin fibrosis 1+ | >14 months |
| 15 | 34/F | Post-PV MF | Pomalidomide Chlorambucil Hydroxycarbamide | Not specified | 64/“no response” | 16/“no response” | Yes/not reported after lenalidomide | Complex karyotype including del(5q) Unspecified/not reported | Positive°/not reported | Post-PV MF/not reported | No response§ |
Notes:
Macrocytosis
proportion of mutant alleles not available
relapse as acute erythroleukemia with complex karyotype, reappearance of JAK2V617F mutation, and no response to lenalidomide retreatment
disappearance of constitutional symptoms
improvement of anemia, neutropenia, thrombocytopenia, and splenomegaly after treatment with CEP-701 (JAK2 inhibitor).
Abbreviations: AML, acute myeloid leukemia; G-CSF, granulocyte colony-stimulating factor; Hb, hemoglobin; IPSS, International Prognostic Scoring System; MDS, myelodysplastic syndrome; MF, myelofibrosis; PMF, primary myelofibrosis; PV, polycythemia vera; Ref, reference; F, female; M, male; TD, transfusion dependent.