TY - JOUR
T1 - Mixed acute leukemia with genotypic lineage switch
T2 - A case report
AU - Ciolli, S.
AU - Leoni, F.
AU - Caporale, R.
AU - Carbone, A.
AU - Francia Di Celle, P.
AU - Foa, R.
AU - Rossi Ferrini, P.
PY - 1993
Y1 - 1993
N2 - 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.
AB - 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.
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M3 - Article
C2 - 8321022
AN - SCOPUS:0027204060
VL - 7
SP - 1061
EP - 1065
JO - Leukemia
JF - Leukemia
SN - 0887-6924
IS - 7
ER -