Phenotypic and genotypic switch in Philadelphia-positive, BCR-positive blast crisis of chronic myeloid leukemia

V. Callea, F. Morabito, P. Francia Di Celle, F. Ronco, A. Carbone, F. Nobile, R. Foa

Research output: Contribution to journalArticlepeer-review

Abstract

We report a case of Ph1-positive, bcr-positive chronic myeloid leukemia blast crisis (CML-BC) which at presentation showed a mixed myeloid/B-lymphoid immunophenotype along with TdT positivity and, at the molecular level, an oligoclonal rearrangement of the immunoglobulin heavy chain (IgH) gene region. After obtaining a successful remission, at the time of relapse the patient underwent a phenotypic and genotypic switch from mixed to myeloid phenotype, characterized by the loss of the lymphoid markers and TdT expression and by a germline configuration of the IgH gene region. The same bcr rearrangement was, however, found in both phases of the disease, supporting the suggestion of a true phenotypic and genotypic conversion. This report confirms that the neoplastic event in CML may take place at an early multipotent stem-cell level, prior to a well-defined phenotypic and genotypic lineage expression. Moreover, it is suggested that different factors (chemotherapy? growth factors?) may have either eradicated the bcr +/IgH + clone and promoted the growth of bcr +/IgH - leukemic cells or, alternatively, supported the lymphoid differentiation program and induced a myeloid lineage shift.

Original languageEnglish
Pages (from-to)187-191
Number of pages5
JournalEuropean Journal of Haematology
Volume48
Issue number4
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Hematology

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