title: FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: a case study and review of the literature.
abstract: Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature. Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. Discussion includes a relevant literature review of similar cases. DNA-PCR can be a useful tool for the analysis of complex and cryptic rearrangements.
authors.affiliation: Department of Laboratory Medicine, School of Medicine, Kyung Hee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea.
authors.forename: Min Jin
authors.initials: MJ
authors.lastname: Kim
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Cho
authors.forename: Myeong-Hee
authors.initials: MH
authors.lastname: Kim
authors.forename: Jae Jin
authors.initials: JJ
authors.lastname: Lee
authors.forename: So Young
authors.initials: SY
authors.lastname: Kang
authors.forename: Eun Hae
authors.initials: EH
authors.lastname: Cho
authors.forename: Jungwon
authors.initials: J
authors.lastname: Huh
authors.forename: Hwi-Joong
authors.initials: HJ
authors.lastname: Yoon
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Woo-In
authors.initials: WI
authors.lastname: Lee
authors.forename: Rolf
authors.initials: R
authors.lastname: Marschalek
authors.forename: Claus
authors.initials: C
authors.lastname: Meyer
mesh_terms: D000293:Adolescent; D000328:Adult; D002875:Chromosomes / Q000648:ultrastructure; D003582:Cytogenetics; D005260:Female; D015321:Gene Rearrangement; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein