Simultaneous occurrence of biphenotypic T cell/myeloid lesions involving t(12;13)(p13;q14) in a pediatric patient

Claudio Carneiro Borba, Maria De Lourdes Chauffaille, Sabri Saeed Sanabnai, Juliana Folloni Fernandes, Cristina Aiko Kumeda, Elvira Deolinda Rodrigues Pereira Velloso, Katia Jarandilha Dos Santos, Marcia Puato Vieira Pupim, Nelson Hamerschlak, Vicente Odone Filho, Israel Bendit

    Research output: Contribution to journalArticle

    1 Scopus citations

    Abstract

    This paper chronicles a 2-year-old girl who presented with acute leukemia/lymphoma syndrome of the T cell immunophenotype. At this time, the cytogenetic analysis of her bone marrow cells showed a reciprocal translocation between the short arm of chromosome 12 and the long arm of chromosome 13, t(12;13)(p13;q14). The immunophenotyping of bone marrow blast cells by flow cytometry revealed a population of cells positive for CD56, CD117, CD45, partial CD33, partial HLA-DR, CD13, CD7, CD2 and CD5. Therefore, a diagnosis of acute leukemia with a mixed T cell/myeloid phenotype was made. The patient had a poor response to classic T cell acute lymphocytic leukemia/lymphoma therapy; thus, her treatment was changed to a myeloid leukemia protocol, which produced a good response. She underwent a successful cord blood transplantation from an unrelated HLA partially matched donor. The coexistence of these two phenotypes prompts questions about the existence of clonal instability, which might influence the choice of therapy. The rarity of the t(12;13)(p13;q14) and the coexistence of T cell/myeloid markers suggest a nonrandom association. To the best of our knowledge, this is the first reported case in which a cell clone bearing a t(12;13)(p13;q14) translocation in a mixed T cell/myeloid lesion was detected.

    Original languageEnglish (US)
    Pages (from-to)165-169
    Number of pages5
    JournalActa Haematologica
    Volume127
    Issue number3
    DOIs
    StatePublished - Mar 1 2012

    Keywords

    • Acute lymphoblastic leukemia
    • Chromosomal translocation
    • Karyotyping

    ASJC Scopus subject areas

    • Hematology

    Fingerprint Dive into the research topics of 'Simultaneous occurrence of biphenotypic T cell/myeloid lesions involving t(12;13)(p13;q14) in a pediatric patient'. Together they form a unique fingerprint.

  • Cite this

    Carneiro Borba, C., De Lourdes Chauffaille, M., Saeed Sanabnai, S., Folloni Fernandes, J., Aiko Kumeda, C., Rodrigues Pereira Velloso, E. D., Jarandilha Dos Santos, K., Puato Vieira Pupim, M., Hamerschlak, N., Odone Filho, V., & Bendit, I. (2012). Simultaneous occurrence of biphenotypic T cell/myeloid lesions involving t(12;13)(p13;q14) in a pediatric patient. Acta Haematologica, 127(3), 165-169. https://doi.org/10.1159/000334881