An acute myeloid leukemia case with concurrent 11q23 anomaly and D13S319 deficiency diagnosed by combined inter- and metaphase fluorescence in situ hybridization / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 48-51, 2020.
Article
ي Zh
| WPRIM
| ID: wpr-781296
المكتبة المسؤولة:
WPRO
ABSTRACT
OBJECTIVE@#To carry out multipath cytogenetic analysis of a rare case of acute myeloid leukemia (AML) with 11q23 aberration and D13S319 deletion.@*METHODS@#G+R banding technique was used to analyze the chromosomal karyotype of the patient after 24 h of cell culture. Combined interphase and metaphase fluorescence in situ hybridization (FISH) was used to detect specific chromosomal sites for complex translocations and minor missing fragments.@*RESULTS@#The patient was found to harbor MLL-AF10 fusion gene due to rearrangement of the mixed lineage leukemia (MLL) gene in conjunct with deletion of the D13S319 locus on chromosome 13.@*CONCLUSION@#Whether MLL gene rearrangement and absence of D13S319 locus has a double impact on AML should attract more attention. For AML patient with clonal abnormalities such as 13q-, del(13)(q14), -13 or der(13), FISH assay should be proof and considered to determine the size of missing fragment so as targeted therapy may be implemented.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Translocation, Genetic
/
Chromosomes, Human, Pair 11
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Leukemia, Myeloid, Acute
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Cells, Cultured
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In Situ Hybridization, Fluorescence
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Genetics
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Interphase
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Karyotyping
/
Metaphase
نوع الدراسة:
Diagnostic_studies
المحددات:
Humans
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2020
نوع:
Article