Neutrophilic-chronic myeloid leukemia: A distinct disease with a specific molecular marker (BCR/ABL with C3/A2 junction)

Fabrizio Pane, Ferdinando Frigeri, Maria Sindona, Luigia Luciano, Felicetto Ferrara, Renato Cimino, Giovanna Meloni, Giuseppe Saglio, Francesco Salvatore, Bruno Rotoli

Research output: Contribution to journalArticle

Abstract

Neutrophilic-chronic myeloid leukemia (CML-N) is a rare myeloproliferative disorder that runs a much more benign course than chronic myeloid leukemia, and for which no specific underlying molecular lesion has been described so far. We have analyzed the genomic DNA by Southern blotting and the BCR/ABL hybrid gene transcripts by reverse transcriptase-polymerase chain reaction in three patients with clinical findings of CML-N, who did have a t(9;22) chromosomal translocation. In all patients we have found a rare type of BCR/ABL rearrangement, with a breakpoint between exons c3 and c4 of the BCR gene (corresponding to BCR exons 19 and 20). This was confirmed by hybridization with an oligonucleotide probe spanning the c3/a2 region. This type of junction causes almost the entire BCR gene to fuse with ABL. The junction is in frame and it gives rise to a fusion protein of predicted 230 kD. Our data now provide a molecular diagnostic marker for CML-N, end they are consistent with the notion that the inclusion or exclusion of BCR exons in the fusion protein affects dramatically its capacity to derange myeloid proliferation and differentiation, leading to the appearance of different disease phenotypes.

Original languageEnglish
Pages (from-to)2410-2414
Number of pages5
JournalBlood
Volume88
Issue number7
Publication statusPublished - Oct 1 1996

ASJC Scopus subject areas

  • Hematology

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  • Cite this

    Pane, F., Frigeri, F., Sindona, M., Luciano, L., Ferrara, F., Cimino, R., Meloni, G., Saglio, G., Salvatore, F., & Rotoli, B. (1996). Neutrophilic-chronic myeloid leukemia: A distinct disease with a specific molecular marker (BCR/ABL with C3/A2 junction). Blood, 88(7), 2410-2414.