C. Marosi et al., TETRASOMY-8 IN ACUTE MONOBLASTIC LEUKEMIA (AML-M5A) WITH MYELOSARCOMATOSIS OF THE SKIN, Cancer genetics and cytogenetics, 71(1), 1993, pp. 50-54
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 mute monoblastic leukemia (AML-M5a). Despit
e an initial response to chemotherapy and radiotherapy, the patient di
ed 1 year after diagnosis of relapsed leukemia. To assess the size of
the tetrasomic clone, fluorescence in situ hybridization (FISH) analys
is with a centromere-specific chromosome 8 probe was performed. Sevent
y 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 nondisju
nction of both chromosomes 8 during one cell division or evolves secon
darily from trisomy 8 through a second mitotic error is not known. Alt
ernatively trisomy 8 may originate from tetrasomy 8 by loss of one chr
omosome 8.