Source:http://linkedlifedata.com/resource/pubmed/id/21325813
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2011-5-17
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pubmed:abstractText |
Variants of t(8;21)(q22;q22) account for approximately 3% of all t(8;21) in acute myeloid leukemia (AML). We report a 63-year-old female patient with AML, who showed a 3-way novel variant of t(8;21), t(1;21;8)(q21;q22;q22). She presented with gastric discomfort and splenomegaly, and her complete blood count was: white blood cell count 7.96 × 10(9)/l, with 7% blasts; hemoglobin 8.3 g/dl, and platelets 66 × 10(9)/l. Her bone marrow showed increased blasts (32.5%) with a basophilic cytoplasm, salmon-pink granules and Auer rods. Cytogenetic analysis revealed a karyotype of 46,XX,t(1;21;8)(q21;q22;q22), and fluorescence in situ hybridization confirmed a RUNX1-RUNX1T1 fusion signal on the derivative chromosome 8. After induction chemotherapy, the patient achieved complete remission and has been stable for 6 months. To the best of our knowledge, this is the first report on the novel variant of t(8;21) involving the breakpoint 1q21 and the third case with a translocation among chromosomes 1, 21 and 8. Although the clinical relevance of variant t(8;21) is still unclear, a review of 24 such cases in the literature does not imply a poorer prognosis of variant t(8;21) than of the classic t(8;21).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
1421-9662
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pubmed:author | |
pubmed:copyrightInfo |
Copyright © 2011 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
125
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
237-41
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pubmed:meshHeading |
pubmed-meshheading:21325813-Chromosomes, Human, Pair 21,
pubmed-meshheading:21325813-Chromosomes, Human, Pair 8,
pubmed-meshheading:21325813-Core Binding Factor Alpha 2 Subunit,
pubmed-meshheading:21325813-Female,
pubmed-meshheading:21325813-Humans,
pubmed-meshheading:21325813-Leukemia, Myeloid, Acute,
pubmed-meshheading:21325813-Middle Aged,
pubmed-meshheading:21325813-Translocation, Genetic
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pubmed:year |
2011
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pubmed:articleTitle |
Acute myeloid leukemia with a RUNX1-RUNX1T1 t(1;21;8)(q21;q22;q22) novel variant: a case report and review of the literature.
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pubmed:affiliation |
Department of Laboratory Medicine, Konkuk University School of Medicine, Seoul, Korea.
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
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