Case Reports
Vol. 8 (2016): Review, Original Articles, Case Reports

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

Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: May 29, 2016
Accepted: September 20, 2016
Published: October 20, 2016
3981
Views
1076
Downloads
1248
HTML
Hematology

Authors

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.

Downloads

Download data is not yet available.

Citations

Sokol L, Caceres G, Rocha K, Stockero KJ, Dewald DW, List AF. JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones. Leuk Res. 2010;34:821-823.
Ingram W, Lea NC, Cervera J, et al. The JAK2 V617F mutation identifies a subgroup of MDS patients with isolated deletion 5q and a proliferative bone marrow. Leukemia. 2006;20:1319-1321.
Azaceta G, Calasanz MJ, Dourdil V, Bonafonte E, Izquierdo I, Palomera L. Response to lenalidomide in a patient with myelodysplastic syndrome with isolated del(5q) and JAK2 V617F mutation. Leuk Lymphoma. 2010;51:1941-1943.
Reis MD, Sher GD, Lakhani A, Dubé ID, Senn JS, Pinkerton PH. Deletion of the long arm of chromosome 5 in essential thrombocythemia. Cancer Genet Cytogenet. 1992;61:93-95.
Takahashi H, Furukawa T, Hashimoto S, et al. 5q- syndrome presenting chronic myeloproliferative disorders-like manifestation: a case report. Am J Hematol. 2000;64:120-123.
Wong KF, Yu PH, Wong WS. Essential thrombocythemia with deleted 5q-a genetic and morphologic hybrid? Cancer Genet Cytogenet. 2010;201:39-41.
Wong KF, Wong WS, Siu LL, Lau TC, Chan NP. JAK2 V617F mutation is associated with 5q- syndrome in Chinese. Leuk Lymphoma. 2009;50:1333-1335.
Dasanu CA, Schwartz RA, Bauer F, Davis LK, Silver JS, Reale MA. Polycythemia vera evolving into a rapidly progressive Ph-negative del(5q)-positive myeloproliferative neoplasm refractory to lenalidomide. Leuk Res. 2011;35:41-43.
Santana-Davila R, Tefferi A, Holtan SG, et al. Primary myelofibrosis is the most frequent myeloproliferative neoplasm associated with del(5q): clinicopathologic comparison of del(5q)-positive and -negative cases. Leuk Res. 2008;32:1927-1930.
Musto P, Simeon V, Guariglia R, Bianchino G, Grieco V, Nozza F, La Rocca F, Marziano G, Lalinga AV, Fabiani E, Voso MT, Scaravaglio P, Mecucci C, D'Arena G. Myelodysplastic disorders carrying both isolated del(5q) and JAK2(V617F) mutation: concise review, with focus on lenalidomide therapy. Onco Targets Ther. 2014 Jun 13;7:1043-50.

Ethics Approval

Case Report
Antonella Vaccarino, Rare Diseases, Immunology, Immunohaematology and Haematology Department, Turin, Italy
Hematology Department
Irene Dogliotti, University of Turin, Italy
Hematology Department
Mario Bazzan, Rare Diseases, Immunology, Immunohaematology and Haematology Department, Turin, Italy
Hematology Department

How to Cite



“Diagnosis of del(5q) MDS, 14 years after JAK-2 positive PV appearance: complete remission of both diseases with lenalidomide monotherapy” (2016) Mediterranean Journal of Hematology and Infectious Diseases, 8, p. e2016050. doi:10.4084/mjhid.2016.050.