Acquired EVI1 rearrangement involved in the transformation from 5q- syndrome to pre-B lymphocytic leukemia in a Chinese patient.
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.
First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 Shizi Street, Suzhou, 215006, People's Republic of China. liudd_2006@126.com
Dandan
D
Liu
Suning
S
Chen
Jinlan
J
Pan
Mingqing
M
Zhu
Ni
N
Wu
Feng
F
Zhu
Zixing
Z
Chen
D000328:Adult; D000748:Anemia, Macrocytic / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D001803:Blood Transfusion; D001853:Bone Marrow / Q000473:pathology; D002454:Cell Differentiation; D019070:Cell Lineage; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics* / Q000648:ultrastructure; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D018450:Disease Progression; D004921:Erythropoietin / Q000627:therapeutic use; D017809:Fatal Outcome; D005221:Fatigue / Q000209:etiology; D006801:Humans; D016130:Immunophenotyping; D059785:Karyotype; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D011519:Proto-Oncogenes / Q000235:genetics*; D013739:Testosterone / Q000627:therapeutic use; D013792:Thalidomide / Q000627:therapeutic use; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors; D004921:Erythropoietin; D013739:Testosterone; D013792:Thalidomide