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 l eukemogenesis. We report a unique case of acute myelomonocytic leukemi a carrying a rare reciprocal translocation, t(3;12)(q26;p13). This pat ient displayed typical clinical features of 3q21q26 syndrome such as a bnormal thrombopoiesis and rapid disease progression. Elastic cells fr om the patient strongly expressed the EVI1 gene, which is located on 3 q26 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 rev iewed previous literature and found 10 other cases with t(3;12)(q26;p1 3). These patients comprise a unique disease group with features inclu ding dyshematopoiesis and poor prognosis. However, characteristics rel ated to 3q21q26 syndrome were observed only in the present case. Furth er investigation is required to elucidate the molecular basis of this particular entity. (C) 1998 Elsevier Science Ireland Ltd. All rights r eserved.