B-cell acute lymphoblastic leukemia with t(4;11)(q21;q23) in a young woman: evolution into mixed phenotype acute leukemia with additional chromosomal aberrations in the course of therapy

• Published in: Hematology reports Vol. 4; no. 3; p. e15
• Main Authors: Carulli, Giovanni, Marini, Alessandra, Ferreri, Maria I, Azzarà, Antonio, Ottaviano, Virginia, Lari, Tiziana, Rocco, Melania, Giuntini, Stefano, Petrini, Mario
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.01.2012; PAGEPress Publications
• Subjects: 11)(q21; Acute lymphoblastic leukemia; acute myeloid leukemia; Case Report; CD13 antigen; CD19 antigen; CD38 antigen; CD56 antigen; Chromosome aberrations; Cyclophosphamide; Dexamethasone; DNA nucleotidylexotransferase; Doxorubicin; Histocompatibility antigen HLA; Karyotypes; Leukemia; Lymphatic leukemia; Lymphocytes B; mixed phenotype acute leukemia; MLL gene; Monocytes; Phenotypes; q23; Vincristine; mixed phenotype acute leukemia; acute myeloid leukemia; acute lymphoblastic leukemia; t(4;11)(q21;q23); MLL gene
• ISSN: 2038-8330; 2038-8322; 2038-8330
• DOI: 10.4081/hr.2012.e15

About 5% of adult B-cell acute lymphoblastic leukemias (B-ALL) are characterized by t(4;11)(q21;q23), which confers peculiar features to this B-ALL subtype, including a very immature immunophenotype and poor prognosis. We describe the case of a 21-year-old female who presented with B-ALL carrying the t(4;11)(q21;q23) and blasts positive for CD19, TdT, CD79a, CD38, HLA-DR. Before completing the Hyper-CVAD (hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone) therapy regimen, the B-cell leukemic clone still was detected, but an additional leukemic clone appeared, with morphology and immunophenotype (CD13, CD33, CD64, CD38, CD56, CD15, CD4(dim)) compatible with derivation from the myeloid/monocytic lineage. Karyotype showed the co-existence of three cell lines, with persistence of t(4;11)(q21;q23) and appearance of +8,+12,+13 and two der(4). The patient died because of disseminated intravascular coagulation. Our report describes a rare, possible evolution of such a subtype of B-ALL, with transformation into mixed phenotype acute leukemia in the course of therapy. This finding suggests a blast cell derivation from a common lymphoid/monocytic precursor leading to a final bilineal acute leukemia.