title: T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature.
abstract: SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient. As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clinical features and treatment outcomes have not been fully determined. Further studies are necessary to evaluate the incidence of SET-NUP214 rearrangement in T-ALL patients and the treatment responses as well as prognosis of these patients.
authors.affiliation: Department of Laboratory Medicine, Armed Forces Capital Hospital, Seongnam, Korea.
authors.forename: Sang-Guk
authors.initials: SG
authors.lastname: Lee
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Cho
authors.forename: Gayoung
authors.initials: G
authors.lastname: Lim
authors.forename: Gwang Jin
authors.initials: GJ
authors.lastname: Park
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Oh
authors.forename: Eun Hae
authors.initials: EH
authors.lastname: Cho
authors.forename: So Young
authors.initials: SY
authors.lastname: Chong
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Huh
mesh_terms: D059786:Abnormal Karyotype; D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D004268:DNA-Binding Proteins; D015321:Gene Rearrangement; D056488:Histone Chaperones / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008479:Mediastinal Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics* / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000378:metabolism; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D056488:Histone Chaperones; C085914:NUP214 protein, human; D028861:Nuclear Pore Complex Proteins; D015514:Oncogene Proteins, Fusion; C513473:SET protein, human; C481746:SET-CAN fusion protein, human; D014157:Transcription Factors