title: [Near-tetraploidy acute myeloid leukemia with RUNX1-RUNX1T1 rearrangement due to cryptic t(8;21)].
abstract: Tetraploidy or near-tetraploidy is a rare cytogenetic abnormality found in AML, and is divided into primary and secondary forms. The secondary tetraploidy or near-tetraploidy found in AML is known to be specifically associated with t(8;21). In this case report, FISH analysis detected RUNX1-RUNX1T1 gene rearrangement in the absence of cytogenetic abnormality of t(8;21), which suggests the presence of unvailed t(8;21). This is the first case report of tetraploidy or near-tetraploidy AML with cryptic RUNX1/RUNX1T1 in Korea. Although the prognosis of tetraploidy or near- tetraploidy with t(8;21) is known to be poor, this patient shows a relatively good clinical course compared to other reported cases.
authors.affiliation: Department of Laboratory Medicine, Korea Cancer Center Hospital, Seoul, Korea.
authors.forename: Mijeong
authors.initials: M
authors.lastname: Im
authors.forename: Jin Kyung
authors.initials: JK
authors.lastname: Lee
authors.forename: Dong Young
authors.initials: DY
authors.lastname: Lee
authors.forename: Young Joon
authors.initials: YJ
authors.lastname: Hong
authors.forename: Seok-Il
authors.initials: SI
authors.lastname: Hong
authors.forename: Hye Jin
authors.initials: HJ
authors.lastname: Kang
authors.forename: Yoon Hwan
authors.initials: YH
authors.lastname: Chang
mesh_terms: D000328:Adult; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D011123:Polyploidy; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C493728:RUNX1 protein, human; C082222:RUNX1T1 protein, human; D014157:Transcription Factors