Masked MLL gene rearrangement was disclosed in the clinical course and sequential development of chromosome abnormality in a patient with therapy related acute myelogenous leukemia.
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.
Hashimoto
Shigeo
S
First Department of Internal Medicine, Faculty of Medicine, Niigata University Medical Hospital, Niigata, Japan. hshigeo@med.niigata-u.ac.jp
Toba
Ken
K
Izumi
Noriko
N
Sato
Naoko
N
Takahashi
Hidenobu
H
Ozawa
Takuya
T
Moriyama
Masato
M
Aoki
Sadao
S
Furukawa
Tatsuo
T
Narita
Miwako
M
Takahashi
Masuhiro
M
Aizawa
Yoshifusa
Y
D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016130:Immunophenotyping; D007945:Leukemia, Lymphoid / Q000235:genetics; D007951:Leukemia, Myeloid / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000209:etiology / Q000235:genetics*; D008228:Lymphoma, Non-Hodgkin / Q000473:pathology / Q000628:therapy; D008875:Middle Aged; D009006:Monosomy; D051788:Myeloid-Lymphoid Leukemia Protein; D016609:Neoplasms, Second Primary / Q000209:etiology / Q000235:genetics*; D011519:Proto-Oncogenes; D014157:Transcription Factors; D014178:Translocation, Genetic
D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase