title: Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia.
abstract: Cryptic deletions are occasionally reported in hematologic malignancies. The SET-NUP214 fusion gene has been rarely reported in acute myeloid leukemia, acute undifferentiated leukemia, and recurrently in T-cell acute lymphoblastic leukemia. The fusion product is generated by a submicroscopic deletion in the vicinity of 9q34. Herein we present a novel case of acute undifferentiated leukemia with SET-NUP214 rearrangement due to the cryptic deletion of the 9q34 region producing two different types of fusion transcripts by alternative splicing and molecular characterization of the fusion transcripts by fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction, and array comparative genomic hybridization analyses.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, Seodaemun-gu, Seoul, Korea.
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.forename: Sang-Guk
authors.initials: SG
authors.lastname: Lee
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Soo Jeong
authors.initials: SJ
authors.lastname: Kim
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Rha
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
mesh_terms: D000208:Acute Disease; D000328:Adult; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007938:Leukemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D017423:Sequence Analysis, RNA; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; C481746:SET-CAN fusion protein, human