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Heterogenous expression of bcr‐abl fusion mRNA in a patient with Philadelphia‐chromosome‐positive acute lymphoblastic leukaemia
Author(s) -
Inokuchi Koiti,
Futaki Makoto,
Hanawa Hideki,
Tanosaki Sakae,
Yamaguchi Hiroki,
Iwakiri Rika,
Nomura Takeo,
Dan Kazuo
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.1452959.x
Subject(s) - breakpoint cluster region , abl , philadelphia chromosome , cancer research , biology , fusion gene , exon , messenger rna , microbiology and biotechnology , alternative splicing , chromosomal translocation , gene , genetics , receptor , tyrosine kinase
We performed molecular and cytogenetic analysis on a 56‐year‐old woman with Philadelphia chromosome (Ph 1 )‐positive acute lymphoblastic leukaemia (ALL) having two types of major and minor bcr‐abl (M‐bcr‐abl, m‐bcr‐abl) fusion mRNA at diagnosis. In the course of her disease, unexpected heterogenous bcr‐abl fusion mRNA was detected by sequential analysis using the reverse transcription and polymerase chain reaction (RT‐PCR). The RT‐PCR analysis showed both M‐bcr‐abl (b2‐a2 type) and m‐bcr‐abl at diagnosis. Although b2‐a2 type M‐bcr‐abl disappeared after complete remission (CR) was achieved with intensive induction chemotherapy, expression of both m‐bcr‐abl and a new type of M‐bcr‐abl mRNA (b1‐a2 type), which may have been produced through splicing out of exon b2, was detected in the early stage of CR. The leukaemic cells contained these heterogenous bcr‐abl mRNAs in both the CR and relapsed state, and showed more stable expression of the m‐bcr‐abl type mRNA than that of the b2‐a2 type. These findings of heterogenous bcr‐abl mRNA due to alternative or missplicing during the disease course in the present ALL case may provide important evidence of disease progression.