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

2010; Elsevier BV; Volume: 203; Issue: 2 Linguagem: Inglês

10.1016/j.cancergencyto.2010.08.026

1873-4456

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, Wooin Lee, Rolf Marschalek, Claus Meyer,

Acute Myeloid Leukemia Research

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.