A rare translocation (4;11)(q21;p14–15) in an acute lymphoblastic leukemia expressing T-cell and myeloid markers

• Published in: Cancer genetics and cytogenetics Vol. 56; no. 2; pp. 255 - 262
• Main Authors: Hardingham, Jennifer E., Peters, Gregory B., Dobrovic, Alexander, Dale, Barry M., Kotasek, Dusan, Ford, Helen E., Story, Colin J., Sage, Robert E.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 15.10.1991
• Subjects: Adult; Antigens, CD - analysis; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 4; Gene Rearrangement - genetics; Gene Rearrangement, T-Lymphocyte; HLA-DR Antigens - analysis; Humans; Immunoglobulin Heavy Chains - genetics; Immunophenotyping; Karyotyping; Male; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Receptors, Antigen, T-Cell - genetics; Translocation, Genetic
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/0165-4608(91)90178-W

A 21-year-old male presented with a large mediastinal mass and a white cell count of 420 × 10 9/L. A diagnosis of acute lymphoblastic leukemia (ALL) was made, with 90% of cells in the bone marrow (BM) and 99% in the peripheral blood (PB) being lymphoblasts (FAB L1). Cytogenetic analysis of these cells revealed a rare variant of the t(4;11) translocation involving chromosome arm 11p rather than 11q, namely t(4;11)(q21;p14–15). The standard form of the (4;11) translocation has been associated with leukemias with mixed-lineage phenotypes. Three cases of ALL with t(4q;11p) have previously been reported. One of these cases showed phenotypic heterogeneity involving myeloid and lymphoid lineages. The leukemia reported here also exhibits lymphoid/myeloid features. Immunophenotyping of the blasts showed that most of the cells were positive for CD2, CD5, CD7, CD10 (CALLA), CD34, and HLA-DR. A significant proportion of the cells expressed CD33. These results suggest a biphenotypic rather than a biclonal disease. Molecular analysis showed rearrangement of both immunoglobulin heavy-chain genes (J H) and of a single allele of the T-cell receptor (TCR) γ1 gene, while retaining germline TCR β genes.