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1995•British Journal of HaematologyRequires access

Trisomy 8 in acute promyelocytic leukaemia: an interphase study by fluorescence in situ hybridization

Yok‐Lam Kwong, K.F. Wong, TK Chan

Open publisher page 25 citations

Abstract

Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q24;q21). Trisomy 8 is the commonest accompanying karyotypic aberration. We investigated 14 APL patients for trisomy 8 using fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis showed trisomy 8 in two of nine successfully karyotyped cases. With FISH, a possible third case showing a subclone (1-2.5%) with trisomy 8 was found. The trisomy 8 clone size defined by karyotyping and FISH was concordant in one case and discordant in another, in which trisomy 8 was found in 100% of metaphases but only in 48% of leukaemic promyelocytes by FISH. Therefore trisomy 8 was mosaic in all the cases, suggesting that it had arisen from clonal evolution. All-trans-retinoic acid successfully induced morphologic remission in both cases with trisomy 8.

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What this paper is about

Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q24;q21). Trisomy 8 is the commonest accompanying karyotypic aberration. We investigated 14 APL patients for trisomy 8 using fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis showed trisomy 8 in two of nine successfully karyotyped cases. With FISH, a possible third case showing a subclone (1-2.5%) with trisomy 8 was found. The trisomy 8 clone size defined by karyotyping and FISH was concordant in one case and discordant in another, in which trisomy 8 was found in 100% of metaphases but only in 48% of leukaemic promyelocytes by FISH. Therefore trisomy 8 was mosaic in all the cases, suggesting that it had arisen from clonal evolution. All-trans-retinoic acid successfully induced morphologic remission in both cases with trisomy 8.

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Available abstract

Acute promyelocytic leukaemia (APL) is characterized by t(15;17)(q24;q21). Trisomy 8 is the commonest accompanying karyotypic aberration. We investigated 14 APL patients for trisomy 8 using fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis showed trisomy 8 in two of nine successfully karyotyped cases. With FISH, a possible third case showing a subclone (1-2.5%) with trisomy 8 was found. The trisomy 8 clone size defined by karyotyping and FISH was concordant in one case and discordant in another, in which trisomy 8 was found in 100% of metaphases but only in 48% of leukaemic promyelocytes by FISH. Therefore trisomy 8 was mosaic in all the cases, suggesting that it had arisen from clonal evolution. All-trans-retinoic acid successfully induced morphologic remission in both cases with trisomy 8.

Key concepts: Trisomy, Fluorescence in situ hybridization, Trisomy 8, Karyotype, Biology, Fish <Actinopterygii>, Aneuploidy, clone (Java method)

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