[Therapy-related MDS/leukemia carrying dup(11) (q21q23) with MLL gene tandem duplication]

Rinsho Ketsueki. 1998 Dec;39(12):1163-8.
[Article in Japanese]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Anemia, Refractory, with Excess of Blasts / pathology
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Chromosomes, Human, Pair 11 / genetics*
  • Cyclophosphamide / administration & dosage
  • Doxorubicin / administration & dosage
  • Doxorubicin / analogs & derivatives
  • Female
  • Gene Duplication*
  • Humans
  • Leukemia, Erythroblastic, Acute / genetics*
  • Leukemia, Monocytic, Acute / pathology
  • Lymphoma, Non-Hodgkin / drug therapy
  • Lymphoma, Non-Hodgkin / pathology*
  • Neoplasms, Second Primary / genetics*
  • Prednisolone / administration & dosage
  • Tandem Repeat Sequences*
  • Vincristine / administration & dosage

Substances

  • Vincristine
  • Doxorubicin
  • Cyclophosphamide
  • Prednisolone

Supplementary concepts

  • VEP-THP protocol