Genetic analysis of a case of B-acute lymphoblastic leukaemia with double Philadelphia chromosomes and double derivative chromosome 9s / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 242-246, 2023.
Article
em Zh
| WPRIM
| ID: wpr-970914
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a rare case of acute B-lymphocytic leukemia (B-ALL) with double Philadelphia chromosomes (Ph) and double derivative chromosome 9s [der(9)].@*METHODS@#A patient with double Ph and double der(9) B-ALL who presented at Shanghai Zhaxin Intergrated Traditional Chinese and Western Medicine Hospital in June 2020 was selected as the subject. Bone marrow morphology, flow cytometry, G-banding karyotyping, fluorescence in situ hybridization (FISH), genetic testing and chromosomal microarray analysis (CMA) were used to analyze bone marrow samples from the patient at various stages.@*RESULTS@#At initial diagnosis, the patient's bone marrow morphology and flow immunotyping have both supported the diagnosis of B-ALL. G-banded karyotyping of the patient indicated double Ph, in addition with hyperdiploid chromosomes involving translocations between chromosomes 9 and 22. BCR-ABL1 fusion gene was positive. Genetic testing at the time of recurrence revealed presence of a heterozyous c.944C>T variant in the kinase region of the ABL1 gene. FISH showed a signal for ABL1-BCR fusion on both chromosome 9s. CMA showed that the mosaicism homozygosity ratio of chromosome 9 was about 40%, and the mosaicism duplication ratio of chromosome 22 was about 43%.@*CONCLUSION@#Since both der(9) homologs were seen in 40% of cells, the possible mechanism for the double der(9) in this patient may be similar to that of double Ph, which might have resulted from non-disjunction during mitosis in the Ph chromosome-positive cell clone.
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Base de dados:
WPRIM
Assunto principal:
Translocação Genética
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Cromossomos Humanos Par 9
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Cromossomo Filadélfia
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China
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Aberrações Cromossômicas
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Proteínas de Fusão bcr-abl
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Hibridização in Situ Fluorescente
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Leucemia-Linfoma Linfoblástico de Células Precursoras
Limite:
Humans
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2023
Tipo de documento:
Article