Tetrasomy 8 in acute monoblastic leukemia (AML-M5a) with myelosarcomatosis of the skin

Cancer Genet Cytogenet. 1993 Nov;71(1):50-4. doi: 10.1016/0165-4608(93)90201-v.

Abstract

We report a new case with isolated tetrasomy 8, an 82-year-old female patient in whom multiple disseminated nodular skin infiltrations up to 5 cm in diameter preceded acute monoblastic leukemia (AML-M5a). Despite an initial response to chemotherapy and radiotherapy, the patient died 1 year after diagnosis of relapsed leukemia. To assess the size of the tetrasomic clone, fluorescence in situ hybridization (FISH) analysis with a centromere-specific chromosome 8 probe was performed. Seventy percent of interphase cells showed four signals and 22% showed three signals. Because this trisomic clone was not detected by conventional cytogenetics, tetrasomic cells may have a proliferation advantage in vitro. Whether tetrasomy 8 arises from a simultaneous mitotic nondisjunction of both chromosomes 8 during one cell division or evolves secondarily from trisomy 8 through a second mitotic error is not known. Alternatively, trisomy 8 may originate from tetrasomy 8 by loss of one chromosome 8.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Immunophenotyping
  • In Situ Hybridization, Fluorescence
  • Leukemia, Monocytic, Acute / genetics*
  • Leukemia, Monocytic, Acute / pathology
  • Leukemia, Myeloid / genetics
  • Leukemia, Myeloid / pathology
  • Leukemic Infiltration / genetics*
  • Leukemic Infiltration / pathology
  • Skin / pathology*