| Case 2 |
| A 46-year-old female presents with symptoms of fatigue. Her spleen is palpable at the costal margin. Her Hgb is 112 g/L, WBC 27 × 109/L, and platelets 221 × 109/L. A smear shows 2% myeloblasts. |
| Bone marrow examination shows hypercellularity with megakaryocyte clustering. There is no dysplasia, myeloblasts are <5%, and a reticulin stain shows grade 2/3 fibrosis. Cytogenetics show del (5q) and t(1;21). Mutation analysis reveals the JAK2V617F mutation. |
| She does not complain of constitutional symptoms or symptoms related to splenomegaly. She has no siblings; an unrelated donor search shows 3 potential donors, HLA-matched by high-resolution typing. |
| Question: How would you treat this patient? |
Proceed with unrelated donor transplantation Initiate lenalidomide Initiate JAK1/2 inhibitor Another option
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Discussion: While the presence of del(5q) suggests that lenalidomide may be a good option, there are no controlled prospective data in support of such an approach. She has neither constitutional symptoms nor significant splenomegaly, making a benefit from JAK1/2 inhibitor treatment unlikely. Her WBC is elevated and myeloblasts are circulating. |
| In view of the patient’s young age and the availability of HLA-matched donors, transplantation should be considered. Recent data indicate that the success rate with unrelated donors who are HLA matched by high resolution typing are comparable to those with HLA-identical siblings. |
