Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-1-20
pubmed:abstractText
Acute myeloid leukemia associated with translocation t(8;21) and the underlying AML1-ETO gene fusion is considered as a distinct type of leukemia with characteristic morphologic features. Variant and masked forms of the classic translocation t(8;21) are uncommon and their clinicopathologic features are less well characterized. We report here a patient with a masked translocation involving chromosomes 6,8 and 21. Chromosomal study at diagnosis initially reported the karyotype as translocation between chromosomes 6 and 8 without visible involvement of chromosome 21. However, fluorescence in situ hybridization studies revealed the involvement of chromosome 21 in the translocation and presence of the AML1-ETO chimeric gene. The complex rearrangement t(6;8;21) observed in our patient was not previously described and could be not detected without combination of techniques. Our case illustrates the challenge of recognizing complex aberrations that occur with variant t(8;21) and further reinforces the utility of fluorescence in situ hybridization applications in more accurate characterization of chromosome abnormalities which can lead to more precise therapeutic stratification.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
2078-2101
pubmed:author
pubmed:issnType
Print
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
56-9
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
A novel variant translocation t(6;8;21)(p22;q22;q22) leading to AML/ETO fusion in acute myeloid leukemia.
pubmed:affiliation
Kuwait Cancer Control Center, Department of Hematology, Kuwait.
pubmed:publicationType
Journal Article, Case Reports