open access

Vol 47, No 1 (2016)
Kazuistyka / Case reports
Submitted: 2015-06-14
Published online: 2016-01-01
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The patient with 5q minus syndrome and V617F mutation with the presence of ringed erythroblasts meeting the criteria of RARS-T effectively treated with lenalidomide – A case report

Marcin Kruszewski1, Adriana Czyż2, Krzysztof Lewandowski3, Monika Prochorec-Sobieszek4, Jarosław Czyż12
DOI: 10.1016/j.achaem.2015.12.002
·
Acta Haematol Pol 2016;47(1):29-32.
Affiliations
  1. University Hospital No. 2 – Biziel Memorial Hospital, Bydgoszcz, Poland
  2. Department of Radiology and Diagnostic Imaging, Nicolaus Copernicus University, Collegium Medicum, Bydgoszcz, Poland
  3. Medical University of Gdansk, Department of Clinical Chemistry and Biochemistry, Gdansk, Poland
  4. Department of Diagnostic Hematology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland

open access

Vol 47, No 1 (2016)
Kazuistyka / Case reports
Submitted: 2015-06-14
Published online: 2016-01-01

Abstract

5q minus syndrome is a form of myelodysplastic syndrome characterized by the presence of an isolated deletion of long arm of the chromosome 5. Patients with 5q minus respond well to the treatment with lenalidomide. The presence of the JAK2 V617F mutation is a common feature of refractory anemia with ring sideroblasts and marked thrombocytosis. Much less is known about effectiveness of lenalidomide in these patients. We present the patient with 5q minus syndrome and JAK2 V617F mutation accompanied by the presence of ringed erythroblasts meeting the criteria of RARS-T. We could identify only two such patients reported in the literature; no details were given about effectiveness of lenalidomide in that group. We observed good response to the treatment with lenalidomide with transfusion independence 9 months after starting of the treatment; however, there was no complete eradication of del (5)(q13q31) clone nor the clone with JAK V617F mutation.

Abstract

5q minus syndrome is a form of myelodysplastic syndrome characterized by the presence of an isolated deletion of long arm of the chromosome 5. Patients with 5q minus respond well to the treatment with lenalidomide. The presence of the JAK2 V617F mutation is a common feature of refractory anemia with ring sideroblasts and marked thrombocytosis. Much less is known about effectiveness of lenalidomide in these patients. We present the patient with 5q minus syndrome and JAK2 V617F mutation accompanied by the presence of ringed erythroblasts meeting the criteria of RARS-T. We could identify only two such patients reported in the literature; no details were given about effectiveness of lenalidomide in that group. We observed good response to the treatment with lenalidomide with transfusion independence 9 months after starting of the treatment; however, there was no complete eradication of del (5)(q13q31) clone nor the clone with JAK V617F mutation.

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Keywords

5q minus; JAK2 V617F mutation; RARS-T; MDS; Lenalidomide

About this article
Title

The patient with 5q minus syndrome and V617F mutation with the presence of ringed erythroblasts meeting the criteria of RARS-T effectively treated with lenalidomide – A case report

Journal

Acta Haematologica Polonica

Issue

Vol 47, No 1 (2016)

Pages

29-32

Published online

2016-01-01

Page views

176

Article views/downloads

183

DOI

10.1016/j.achaem.2015.12.002

Bibliographic record

Acta Haematol Pol 2016;47(1):29-32.

Keywords

5q minus
JAK2 V617F mutation
RARS-T
MDS
Lenalidomide

Authors

Marcin Kruszewski
Adriana Czyż
Krzysztof Lewandowski
Monika Prochorec-Sobieszek
Jarosław Czyż

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