Masked MLL gene rearrangement was disclosed in the clinical course and sequential development of chromosome abnormality in a patient with therapy related acute myelogeneous leukemia

Abstract 

Therapy related acute myelogenous leukemia in a 55-year-old Japanese woman is described. She had been treated for a diagnosis of non-Hodgkin’s lymphoma 2 years before the onset of the secondary leukemia. She was diagnosed as AML (FAB: M2) with monosomy 7, and successfully treated by an intensive combination chemotherapy followed by an autologous peripheral blood stem cell transplantation. The disease relapsed shortly after the treatment, and the karyotype analysis revealed a complex abnormality accompanied with t(9;11)(p22;q23), however, monosomy 7 was absent. Southern blotting analysis was performed, and MLL rearrangement was evident in both the bone marrow samples obtained at that time and the cryopreserved marrow cells obtained at the onset of the disease. The bone marrow sample stored in a Carnoy solution at the onset was further analyzed, and three karyotype panels showing 45,XX, −7, t(9;11)(p22;q23) were found. Like this situation, a masked MLL rearrangement may have existed in some cases with hematopoietic malignancies, and appear to be disclosed in the clinical course.

Abbreviations:  MLL, the mixed lineage leukemia/myeloid-lymphoid leukemia, hDMP1, cyclin D-binding Myb-like protein, IRF-1, interferon regulatory factor-1, AML, acute myelogenous leukemia, TRL, therapy related leukemia, MDS, myelodysplastic syndrome, FAB, French–American–British classification, FISH, fluorescence in situ hybridization, FITC, fluorescein isothiocyanate, PE, phycoerythrin

Keywords:  MLL, t(9;11), Secondary leukemia, Masked chromosomal abnormality, Monosomy 7