Diagnosis of del(5q) MDS, 14 years after JAK-2 positive PV appearance: complete remission of both diseases with lenalidomide monotherapy

Abstract

This is the report of the clinical case of a patient who presents the association of a JAK-2 positive chronic myeloproliferative neoplasia to a subsequent 5q- myelodysplastic syndrome, developed after about 14 years from the first diagnosis. Patient’s symptoms had rapidly worsened, and she became transfusion-dependent. Therapy with low-dose Lenalidomide quickly reduced the splenomegaly, and completely brought white cells counts, haemoglobin and platelets back to normal. After more than one year from start, blood cell count is still normal. As far as we know this is the first case of an effective treatment with Lenalidomide reported in this clinical setting.

Concomitant chromosome 5q-deletion and JAK2V617F mutation present with myelodysplastic and myeloproliferative overlap features

“…A majority of patients are also transfusion dependent [10,13,14]. While this appears similar to MPNs, the transfusion-dependent anemia and thrombocytosis does not typically respond to erythropoietin and hydroxyurea respectively [14][15][16]. In some cases with a del (5q) and JAK2 V617F mutation, platelet and leukocyte counts did normalize with a regimen of interferon-alpha, aspirin and hydroxyurea, but this did not improve the anemia [10,13].…”

“…This behavior, as well as the response to lenalidomide, is more similar to an MDS-type clinical course. In most case reports, treatment with lenalidomide obliterates all cellular clones with del(5q) and in some cases reduction in JAK2 V617F positive clone was observed [13][14][15][16]. For example, a complete molecular response occurred in one patient with undetectable JAK2 V617F mutation by quantitative real time polymerase reaction after 9 months of lenalidomide treatment compared to baseline JAK2 V617F allele burden of 26.28% [14].…”