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

作者：Liu Dandan^*; Chen Suning; Pan Jinlan; Zhu Mingqing; Wu Ni; Zhu Feng; Chen Zixing

来源：International Journal of Hematology, 2012, 96(6): 806-809.

DOI：10.1007/s12185-012-1185-8

• 5q-syndrome
• EVI1 rearrrangement/t(3
• 3)(q21
• q26)
• Acute lymphocytic leukemia

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.

• 出版日期2012-12
• 单位苏州大学