A novel variant of acute myelomonocytic leukemia carrying t(3;12)(q26;p13) with characteristics of 3q21q26 syndrome.
Chromosomal translocation often results in aberrant activation of the genes with oncogenic potential and, thus, plays an important role in leukemogenesis. We report a unique case of acute myelomonocytic leukemia carrying a rare reciprocal translocation, t(3;12)(q26;p13). This patient displayed typical clinical features of 3q21q26 syndrome such as abnormal thrombopoiesis and rapid disease progression. Blastic cells from the patient strongly expressed the EVI1 gene, which is located on 3q26 and is normally suppressed in bone marrow cells. Expression of the TEL gene, located on 12p13, was also observed, but fusion transcript between two genes was not found. No structural alterations of the EVI1 and TEL genes were detected by Southern blot and PCR analyses. We reviewed previous literature and found 10 other cases with t(3;12)(q26;p13). These patients comprise a unique disease group with features including dyshematopoiesis and poor prognosis. However, characteristics related to 3q21q26 syndrome were observed only in the present case. Further investigation is required to elucidate the molecular basis of this particular entity.
Iwase
S
S
Department of Internal Medicine (Aoto), Jikei University School of Medicine, Tokyo, Japan.
Furukawa
Y
Y
Horiguchi-Yamada
J
J
Nemoto
T
T
Takahara
S
S
Kawano
T
T
Sekikawa
T
T
Ito
K
K
Yamazaki
Y
Y
Kikuchi
J
J
Morishita
K
K
Yamada
H
H
D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics / Q000648:ultrastructure*; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics; D004211:Disseminated Intravascular Coagulation; D004742:Enhancer Elements, Genetic; D017809:Fatal Outcome; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics* / Q000382:microbiology / Q000473:pathology; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D010976:Platelet Count; D011379:Prognosis; D050783:Proto-Oncogene Proteins c-ets; D011519:Proto-Oncogenes; D012333:RNA, Messenger / Q000096:biosynthesis; D012334:RNA, Neoplasm / Q000096:biosynthesis; D012097:Repressor Proteins; D013577:Syndrome; D013922:Thrombocytosis / Q000209:etiology; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; D009363:Neoplasm Proteins; D050783:Proto-Oncogene Proteins c-ets; D012333:RNA, Messenger; D012334:RNA, Neoplasm; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein; C063575:MECOM protein, human