title: Durable response to lenalidomide in a patient with myelodysplastic syndrome associated with isolated 5q deletion andJAK2V617F mutation despite discontinuation of treatment.
abstract: Loss of a section of the long arm of chromosome 5, as a sole cytogenetic abnormality, characterizes a rare type of myelodysplastic syndrome [del(5q) MDS] and the co-existence of theJAK2V617F mutation occurs in a small subset of these cases. Patients with isolated del(5q) MDS have a relatively favorable prognosis, with transformation to acute myeloid leukemia occurring in <10%, and their disease responds well to lenalidomide. However the optimal therapeutic approach for patients with del(5q) MDS in coexistence with theJAK2V617F mutation, which is common to myeloproliferative neoplasms, remains to be elucidated. The present study reports a 77-year-old, transfusion-dependent female patient diagnosed with del(5q) MDS and a concomitantJAK2V617F mutation. The patient was started on 10 mg lenalidomide daily for 21 days in a 28 day-cycle and within the first month of treatment, the patient became transfusion-independent. The only toxicity observed was grade 3 neutropenia, which was managed with transient treatment discontinuation and dose reduction on restart (5 mg). The patient achieved a complete cytogenetic and molecular response (normal karyotype and undetectedJAK2V617F mutation) within 6 months of treatment. However, 12 months post treatment initiation and while on hematological, cytogenetic and molecular response, the patient was unwilling to continue on treatment and lenalidomide was discontinued. The patient remains in hematological response, which lasts for >5 years despite treatment discontinuation. The present case highlights the coexistence of theJAK2V617F mutation in del(5q) MDS and suggests that lenalidomide treatment is beneficial and effective for these patients, leading to complete hematological, cytogenetic and molecular response. Hematological response may be sustained for long periods of time, even following the discontinuation of the treatment.
authors.affiliation: Department of Hematology, University of Ioannina, 45110 Ioannina, Greece; Thomas Jefferson University, Computational Medicine Center, Sidney Kimmel Medical College, Philadelphia, PA 19107, USA.
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Hatzimichael
authors.affiliation: Department of Hematology, University of Ioannina, 45110 Ioannina, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Lagos
authors.affiliation: Department of Hematology, University of Ioannina, 45110 Ioannina, Greece.
authors.forename: Amalia
authors.initials: A
authors.lastname: Vassou
authors.affiliation: Department of Hematology, University of Ioannina, 45110 Ioannina, Greece.
authors.forename: Dora
authors.initials: D
authors.lastname: Gougopoulou
authors.affiliation: Department of Pathology, University Hospital of Ioannina, 45500 Ioannina, Greece.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Papoudou-Bai
authors.affiliation: Department of Hematology, University of Ioannina, 45110 Ioannina, Greece.
authors.forename: Evangelos
authors.initials: E
authors.lastname: Briasoulis
keywords: JAK2 V617F; del(5q); lenalidomide; myelodysplastic syndrome