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Int J Clin Exp Pathol 2011;4(3):322-326

Case Report
Transformation of the 5q- syndrome to acute lymphoblastic leukemia: a report of two
cases and review of the literature

Nicole M. Agostino, Basil Ahmed, Dan Popescu, Shereen Gheith

Lehigh Valley Hospital and Health Network, Department of Hematology/Oncology; Lehigh Valley Hospital and Health Network, Department of
Pathology, Allentown, PA 18105, USA.

Received January 15, 2011; accepted March 9, 2011; Epub March 22, 2011; published March 31, 2011

Abstract: Myelodysplastic syndrome (MDS) with an isolated deletion of the long arm of chromosome 5 (5q- syndrome) is a distinct subtype of
MDS with an indolent course that rarely transforms to acute leukemia.  Deletion of the long arm of chromosome 5 has been also reported in
rare cases of de novo B-lymphoblastic leukemia.  We present two cases of 5q- syndrome with a similar and unusual course of transformation
to lymphoblastic leukemia while on Lenalidomide. These two patients achieved an initial response; however, later on acquired a second
cytogenetic abnormality, became refractory to treatment and evolved into acute leukemia. At the time of transformation, both patients had
recurrence of the 5q- abnormality.  Review of the literature and the mechanisms of transformation of the 5q- syndrome into an acute leukemia
are discussed. Although the relationship between the events in our cases remains unclear, the intriguing similarity between the two cases
raises a question whether immune modulators can alter the natural course of MDS. To our knowledge, no similar cases were previously
reported in the literature. (IJCEP1101002).

Keywords: Myelodysplastic Syndrome, Acute Lymphoblastic Leukemia, Lenalidomide, 5q- Syndrome

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Address all correspondence to:
Nicole M Agostino, DO
Lehigh Valley Hospital and Health Network
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Tel: 610-402-9104