title: Transformation of the 5q- syndrome to acute lymphoblastic leukemia: a report of two cases and review of the literature.
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 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.
authors.affiliation: Lehigh Valley Hospital and Health Network, Department of Hematology/Oncology, Allentown, PA 18105, USA. Nicole_M.Agostino@lvhn.org
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Agostino
authors.forename: Basil
authors.initials: B
authors.lastname: Ahmed
authors.forename: Dan
authors.initials: D
authors.lastname: Popescu
authors.forename: Shereen
authors.initials: S
authors.lastname: Gheith
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000748:Anemia, Macrocytic / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*