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

Authors
Journal
Cancer Genetics and Cytogenetics
0165-4608
Publisher
Elsevier
Publication Date
Volume
71
Issue
1
Identifiers
DOI: 10.1016/0165-4608(93)90201-v
Disciplines
  • Medicine

Abstract

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.

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