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

Antonella Vaccarino, Irene Dogliotti, Fabio Marletto, Andrea Demarchi, Mario Bazzan
  • Antonella Vaccarino
    Rare Diseases, Immunology, Immunohaematology and Haematology Department, Turin, Italy, Italy | antonella.vaccarino@libero.it
  • Irene Dogliotti
    University of Turin, Italy, Italy
  • Fabio Marletto
    Rare Diseases, Immunology, Immunohaematology and Haematology Department, Italy
  • Andrea Demarchi
    Pathology Unit, San Giovanni Bosco Hospital, Turin, Italy, Italy
  • Mario Bazzan
    Rare Diseases, Immunology, Immunohaematology and Haematology Department, Turin, Italy, Italy

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.

Keywords

myeloproliferative syndrome, myelodysplastic syndrome, 5q deletion, JAK-2 mutation, lenalidomide

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