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Int J Clin Exp Pathol. 2011 Mar;4(3):322-6. Epub 2011 Mar 22.

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

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


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 also been 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 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.


5q- syndrome; Myelodysplastic; acute lymphoblastic leukemia; lenalidomide; syndrome

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