Second case of CML with aberrant BCR-ABL fusion transcript (e8/a2) with insertion of an inverted ABL intron 1b sequence

✍ Scribed by Takeshi Sugimoto; Kentaro Ijima; Hisashi Hisatomi; Tohru Murayama; Ishikazu Mizuno; Akio Hato; Shion Imoto; Ryuichiro Nishimura; Tamio Koizumi

• Book ID: 101433468
• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 81 KB
• Volume: 77
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/ajh.20138

✦ Synopsis

Abstract

We found a case of Ph‐positive chronic myelogenous leukemia (CML) patient with an atypical BCR‐ABL transcript that was undetectable by a routine reverse transcription polymerase chain reaction (RT‐PCR) for major BCR‐ABL. Additional RT‐PCR and sequence analyses have demonstrated that the aberrant transcript consists of a fusion of BCR exon 8 (e8) and ABL exon 2 (a2) with an insertion of a 55‐bp inverted sequence of intron 1b between them. The nucleotide sequences of the aberrant transcript were identical to those of a previously reported CML patient. These are the only two CML cases in the literature with identical aberrant BCR‐ABL transcripts. Am. J. Hematol. 77:164–166, 2004. © 2004 Wiley‐Liss, Inc.