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

作者: Christine Marosi , Manfred Muhm , Anthi Argyriou-Tirita , Herbert Pehamberger , Hendrati Pirc-Danoewinata

DOI: 10.1016/0165-4608(93)90201-V

关键词: Acute Monoblastic LeukemiaPathologyTrisomy 8TetrasomyImmunologyFluorescence in situ hybridizationLeukemiaNondisjunctionAneuploidyClone (cell biology)Biology

摘要: 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 diameter preceded acute monoblastic leukemia (AML-M5a). Despite initial response chemotherapy and radiotherapy, the died 1 year after diagnosis of relapsed leukemia. To assess size tetrasomic clone, fluorescence situ hybridization (FISH) analysis centromere-specific chromosome 8 probe was performed. Seventy percent interphase cells showed four signals 22% three signals. Because this trisomic clone not detected by conventional cytogenetics, may have proliferation advantage vitro. Whether arises from simultaneous mitotic nondisjunction both chromosomes during one cell division or evolves secondarily trisomy through second error is known. Alternatively, originate loss 8.

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