FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature

Min Jin Kim, Sun Young Cho, Myeong Hee Kim, Jae Jin Lee, So Young Kang, Eun Hae Cho, Jungwon Huh, Hwi Joong Yoon, Tae Sung Park, Woo In Lee, Rolf Marschalek, Claus Meyer

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

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.

Original languageEnglish
Pages (from-to)278-283
Number of pages6
JournalCancer Genetics and Cytogenetics
Volume203
Issue number2
DOIs
StatePublished - Dec 2010

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