Acquired EVI1 rearrangement involved in the transformation from 5q- syndrome to pre-B lymphocytic leukemia in a Chinese patient

Author: Liu Dandan  

Publisher: Springer Publishing Company

ISSN: 0925-5710

Source: International Journal of Hematology, Vol.96, Iss.6, 2012-12, pp. : 806-809

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Abstract

The anomalous EVI1 rearrangements/t(3;3)(q21;q26) is more frequently found in myelocytic malignancies. 5q- syndrome is a newly defined subtype of myelodysplastic syndrome (MDS) first proposed by the World Health Organization in 2001. Cases of acute lymphocytic leukemia (ALL) with 5q- anomaly or t(3;3)/EVI1 rearrangement have rarely been reported. We report a rare 5q- syndrome case which ultimately transformed to acute lymphocytic leukemia accompanied by a secondary cytogenetic anomaly of t(3;3)(q21;q26) and EVI1 rearrangement around 3 years after the diagnosis of 5q- syndrome. This rare case suggests that the 5q- clone of MDS may originate from a multipotent cell with a capacity to differentiate toward both myeloid and lymphoid lineages. It also indicates that although the t(3;3)/EVI1 rearrangement is mostly related to myelocytic neoplasms, the t(3;3)/EVI1-rearrangement may also play an important role in the development of ALL. The results of the necessary tests must be analyzed sufficiently prior to making a final diagnosis.

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