Leukemia & Lymphoma, April 2015; 56(4): 1143-1144
© 2014 Informa UK, Ltd.
ISSN: 1042-8194 print /1029-2403 online
DOI: 10.3109/10428194.2014.941831
informa
healthcare
LETTER TO THE EDITOR
Development of myelodysplastic syndrome in a patient with chronic
myelogenous leukemia treated with imatinib
Nabhajit Mallik1, Anita Chopra1, Akash Jha2, Ajay Gogia2 & Rajive Kumar1
1 Department of Laboratory Oncology and 2Department of Medical Oncology, Dr. B. R. A., Institute Rotary Cancer Hospital,
All India Institute of Medical Sciences, New Delhi, India
Chronic myelogenous leukemia (CML) is a myeloprolifera
tive neoplasm that is constantly associated with the BCR-
ABL1 fusion gene [1], This fusion gene encodes a chimeric
protein with increased tyrosine kinase activity that plays a
central role in the pathogenesis of CML [2], Imatinib mesy
late is a potent and selective competitive inhibitor of the
BCR-ABL protein tyrosine kinase. It is used as a front-line
therapy for CML, and induces complete hematological and
cytogenetic response in most patients with chronic phase
CML [3], During treatment for CML, a subset of patients
develop chromosomal abnormalities in the Philadelphia
chromosome (Ph) negative cells that emerge as they
respond to therapy [4], However, the incidence and signifi
cance of these abnormalities are poorly understood. Some
of these abnormalities are associated with myelodysplastic
syndrome (MDS). However, only a few cases that harbor
these cytogenetic abnormalities along with MDS are
reported [5], We report a case of MDS arising in a patient
who was being treated for CML with imatinib.
A 60-year-old male presented with a history of weak
ness, fever and splenomegaly in August 2005 at our center,
and was diagnosed as having Ph positive chronic phase
CML. He was started on imatinib at a dose of 400 mg/day.
The treatment was interrupted many times initially due to
low platelet counts. The dosage of imatinib was reduced
to 300 mg/day, and he achieved complete hematological
response in June 2007. The patient continued on the drug
and was asymptomatic until September 2012, when he
presented with bleeding, and was found to have low hemo
globin and platelets. He developed pancytopenia, with
progressively decreasing counts, and required multiple
blood transfusions. Imatinib was stopped in April 2013.
Bone marrow examination showed dysmegakaryopoiesis
and dyserythropoiesis, along with 4% blasts. Cytogenetics
study by fluorescence in situ hybridization (FISH) showed
that 100% cells were Ph negative. However, new clonal
cytogenetic abnormalities were noted, with del 7q being
observed in 86% of cells, monosomy 7 in 6% of cells and
del 20q in 32% of cells. The patient was diagnosed as hav
ing MDS, high risk (according to the revised International
Prognostic Scoring System [IPSS-R]). He was started on
decitabine injection, 20 mg/m2 (day 1 to day 5), every 28
days. The patient has to date received four cycles of decit
abine. Bone marrow examination after four cycles showed
progression to refractory anemia with excess blasts-2
(RAEB-2), with 12% blasts. There have been no episodes
of febrile neutropenia or bleeding. The patient is now on
close hematological follow-up.
The development of cytogenetic abnormalities in Ph neg
ative metaphases in patients with CML treated with imatinib
has been reported, but its clinical implications are poorly
understood. Most cytogenetic abnormalities encountered
in Ph negative cells of patients treated with imatinib are not
related to myelodysplasia, and some seem to be transient
[6,7], In a study of 272 patients treated with imatinib, this
phenomenon was seen in 21 (8%) cases [6], Trisomy 8 has
been found to be the most frequent cytogenetic abnormality
in such cases [5].
Development of MDS in patients with Ph negative meta
phases after treatment with imatinib, however, is rare [8-11].
Interestingly, in such patients, chromosome 7 abnormalities
have been found to be particularly common [12], especially
monosomy 7, which was also seen in our patient. This abnor
mality is common in secondary MDS or acute myelogenous
leukemia (AML), evolving after exposure to alkylating agents,
and patients with MDS or AML with this abnormality have
poor outcomes.
The etiology of imatinib induced MDS is yet to be com
pletely understood. Two mechanisms have been proposed.
First, imatinib may provide an advantage to abnormal
clones that were already present in the patient at low levels.
Second, these changes could be directly due to imatinib
toxicity [5].
To conclude, MDS developing in patients with CML
treated with imatinib is a rare entity. Further studies with
long-term follow-up are required to understand the etiology
Correspondence: Dr. Anita Chopra, Room No 423, 4th Floor, Dr. BRAIRCH, AIIMS, Ansari Nagar, New Delhi-110029, India. Tel: 91-11-29575415. Fax: 91-11-
26588663. E-mail: chopraanita2005@gmail.com
Received 11 February 2014; revised 17 June 2014; accepted 29 June 2014
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