PMID- 16797070 OWN - NLM STAT- MEDLINE DCOM- 20071012 LR - 20220409 IS - 0145-2126 (Print) IS - 0145-2126 (Linking) VI - 31 IP - 2 DP - 2007 Feb TI - Identification of PML-RARA rearrangement by RT-PCR and sequencing in an acute promyelocytic leukemia without t(15;17) on G-banding and FISH. PG - 239-43 AB - Acute promyelocytic leukemia (APL) is characterized by a reciprocal translocation, t(15;17) (q22;q12), resulting in fusion of the genes promyelocytic leukemia (PML) and retinoic acid receptor alpha (RARA). With conventional cytogenetic methods, these translocations are detected in about 70-90% of patients, with most of the negative results due to technical problems or cryptic variants. Those masked PML-RARA fusions can be identified by molecular analyses such as reverse transcriptase-polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH). We have studied a patient showing morphological, cytochemical, and immunophenotypic features of hypergranular APL with trisomy 8 as a sole anomaly. t(15;17) was not evident on FISH tests, while RT-PCR and cDNA sequencing revealed the presence of PML-RARA transcripts. FAU - Han, Jin-Yeong AU - Han JY AD - Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Republic of Korea. jyhan@dau.ac.kr FAU - Kim, Kyong-Eun AU - Kim KE FAU - Kim, Kyeong-Hee AU - Kim KH FAU - Park, Joo-In AU - Park JI FAU - Kim, Jae-Seok AU - Kim JS LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20060621 PL - England TA - Leuk Res JT - Leukemia research JID - 7706787 RN - 0 (Oncogene Proteins, Fusion) RN - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein) SB - IM MH - *Chromosome Banding MH - Chromosomes, Human, Pair 8/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Leukemia, Promyelocytic, Acute/diagnosis/drug therapy/*genetics MH - Middle Aged MH - Oncogene Proteins, Fusion/*genetics MH - Remission Induction MH - Reverse Transcriptase Polymerase Chain Reaction/*methods MH - Sequence Analysis, DNA/*methods MH - Trisomy EDAT- 2006/06/27 09:00 MHDA- 2007/10/13 09:00 CRDT- 2006/06/27 09:00 PHST- 2006/04/13 00:00 [received] PHST- 2006/05/09 00:00 [revised] PHST- 2006/05/11 00:00 [accepted] PHST- 2006/06/27 09:00 [pubmed] PHST- 2007/10/13 09:00 [medline] PHST- 2006/06/27 09:00 [entrez] AID - S0145-2126(06)00165-2 [pii] AID - 10.1016/j.leukres.2006.05.011 [doi] PST - ppublish SO - Leuk Res. 2007 Feb;31(2):239-43. doi: 10.1016/j.leukres.2006.05.011. Epub 2006 Jun 21.