Mixed acute leukemia with genotypic lineage switch: A case report

S. Ciolli, F. Leoni, R. Caporale, A. Carbone, P. Francia Di Celle, R. Foa, P. Rossi Ferrini

Research output: Contribution to journalArticlepeer-review


Morphologically well classifiable leukemias can reveal a mixed phenotype. A case of acute myeloid leukemia (CD13, CD33, CD14, CD11b) which at presentation showed a co-expression of B-lymphoid markers (CD19, CD10, CD20), at the time of the first relapse revealed a morphologic, phenotypic and genotypic switch of the blasts to a purely lymphoid form. Analysis of the immunoglobulin (Ig) H chain locus and of the T-cell receptor (TCR) genes showed at diagnosis a germline configuration of the IgH, TCRβ and γ genes, and a deletion of the TCR δ gene at the second chromosome. At relapse, monoclonal rearrangements of the IgH, TCR γ, and TCR δ were detected. At a subsequent relapse, the blasts re-expressed myeloid morphologic features and myeloid-associated antigens, while they retained the same rearranged configuration of the IgH and TCRβ and δ genes. The TCR δ gene configuration, which links each phase of the disease, may represent an early pathogenetic event and makes the emergence of a second malignancy unlikely. Each phenotypic change occurred after anti-myeloid and anti-lymphoid oriented chemotherapy. The close correlation between the progressive acquisition of different phenotypes and the switch at the genomic level represent the peculiar features of this unusual case.

Original languageEnglish
Pages (from-to)1061-1065
Number of pages5
Issue number7
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Cancer Research
  • Hematology


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