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Second case of CML with aberrant BCR‐ABL fusion transcript (e8/a2) with insertion of an inverted ABL intron 1b sequence
Author(s) -
Sugimoto Takeshi,
Ijima Kentaro,
Hisatomi Hisashi,
Murayama Tohru,
Mizuno Ishikazu,
Hato Akio,
Imoto Shion,
Nishimura Ryuichiro,
Koizumi Tamio
Publication year - 2004
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20138
Subject(s) - exon , fusion transcript , chronic myelogenous leukemia , abl , biology , intron , breakpoint cluster region , microbiology and biotechnology , fusion gene , cancer research , genetics , leukemia , gene , receptor , tyrosine kinase
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.