Philadelphia-positive acute lymphoblastic leukemia with multiple subclones including duplication of the Philadelphia chromosome and Abelson oncogene.
Cancer Genet Cytogenet
; 132(1): 46-50, 2002 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-11801308
ABSTRACT
A case of Philadelphia (Ph)-positive acute lymphoblastic leukemia (ALL) with multiple subclones including duplication of the BCR-ABL1 fusion gene and of the Abelson oncogene (ABL1) is reported. Cytogenetically, two different rearrangements of chromosome 9 not involved in the t(9;22) were found in two subclones. In one subclone the normal 9 was lost and replaced by an acrocentric marker, which contained an additional copy of the BCR-ABL1 fusion gene. Reverse transcriptase polymerase chain reaction detected the fusion transcripts p210 (e13a2 junction) and p190 (e1a2 junction), whereas fluorescence in situ hybridization showed the major BCR-ABL1 junction in both Ph chromosomes, strongly suggesting that the presence of the p210 and p190 proteins in this case was due to mechanisms of alternative or mis-splicing at the transcriptional level. The second subclone showed the classic t(9;22) plus an add(9)(p24) containing two copies of the ABL1 gene. Other molecular events involving chromosome 9 were a monoallelic loss of JAK2 in both subclones and an additional loss of P15/P16 in the subclone with the acrocentric marker bearing the extra Ph chromosome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo Filadélfia
/
Leucemia Mielogênica Crônica BCR-ABL Positiva
/
Genes abl
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Proteínas de Fusão bcr-abl
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Duplicação Gênica
Limite:
Adolescent
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Female
/
Humans
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article