[Therapy-related MDS/leukemia carrying dup(11) (q21q23) with MLL gene tandem duplication].
A 42-year-old woman had been given a diagnosis of malignant lymphoma, follicular, small cleaved cell. She had undergone chemotherapy including etoposide (1,500 mg/total) and was in her second complete remission. Four years and 4 months later, refractory anemia with excess of blasts (RAEB) with dup(11) (q21q23) x 2 developed in the patient and progressed to acute myeloid leukemia (AML-M5b). Despite regression of the AML to RAEB, a clone with the additional abnormality of del(20) (q11q13.1) appeared and transformed the RAEB into AML-M6. Rearrangement of the MLL gene was observed, and FISH analysis demonstrated that the signal sequences from the gene's 5' and 3'-terminal regions had detached. RT-PCR techniques detected a tandem duplication of MLL gene exons 2 through 8. This was considered to be one of the mechanisms behind the formation of the 11q23 abnormality observed in this patient.
Department of Internal Medicine, Hiroshima City Asa Hospital.
Y
Y
Takimoto
M
M
Eguchi
M
M
Eguchi-Ishimae
F
F
Imanaka
N
N
Kamada
D000328:Adult; D000754:Anemia, Refractory, with Excess of Blasts / Q000473:pathology; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003520:Cyclophosphamide / Q000008:administration & dosage; D004317:Doxorubicin / Q000008:administration & dosage / Q000031:analogs & derivatives; D005260:Female; D020440:Gene Duplication; D006801:Humans; D004915:Leukemia, Erythroblastic, Acute / Q000235:genetics*; D007948:Leukemia, Monocytic, Acute / Q000473:pathology; D008228:Lymphoma, Non-Hodgkin / Q000188:drug therapy / Q000473:pathology*; D016609:Neoplasms, Second Primary / Q000235:genetics*; D011239:Prednisolone / Q000008:administration & dosage; D020080:Tandem Repeat Sequences; D014750:Vincristine / Q000008:administration & dosage
D014750:Vincristine; D004317:Doxorubicin; D003520:Cyclophosphamide; D011239:Prednisolone