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KMID : 1100820110010030168
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Laboratory Medicine Online
2011 Volume.1 No. 3 p.168 ~ p.171
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A Case of Masked t(8;21) in Acute Myeloid Leukemia with Cytogenetic Abnormality of 45,X,-Y,t(8;17)(q22;p13)
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Shim Hyeok
Lee Young-Jin
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Abstract
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The t(8;21)(q22;q22) is one of the most frequent structural chromosomal anomaly found in AML, occurring in about 5% of all AML and in 10% of AML with maturation (M2). And approximately 3.4% of AML with t(8;21)(q22;q22) occurs as a complex chromosomal abnormality and occasionally shows discrepancy between cytogenetic and molecular genetic analyses. We report a case of 42 yr old male patient that revealed morphological characteristics of AML-M2 and karyotypic abnormality of 45,X,-Y,t(8;17)(q22;p13) without visible involvement of chromosome 21 by conventional cytogenetic study with masked t(8;21) identified by FISH using RUNX1/RUNX1T1 probes. FISH confirmed nuc ish (RUNX1T1x3),(RUNX1x3), (RUNX1T1 con RUNX1x1). According to the results of conventional cytogenetic and FISH analyses, the karyotype was revised to 45,X,-Y,t(8;17;21)(q22;p13;q22).
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KEYWORD
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AML-M2, Masked t(8, 21), t(8, 17, 21)(q22, p13, q22)
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