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BACKGROUND:Chromosome translocations are a hallmark of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Additional genomic aberrations are also crucial in both BCP-ALL leukemogenesis and treatment management. Herein, we report the phenotypic and molecular cytogenetic characterization of an extremely rare case of BCP-ALL harboring two concomitant leukemia-associated chromosome translocations: t(1;19)(q23;q13.3) and t(9;17)(p13;q11.2). Of note, we described a new rearrangement between exon 6 of PAX5 and a 17q11.2 region, where intron 3 of SPECC1 is located. This rearrangement seems to disrupt PAX5 similarly to a PAX5 deletion. Furthermore, a distinct karyotype between diagnosis and relapse samples was observed, disclosing a complex clonal evolution during leukemia progression. CASE PRESENTATION:A 16-year-old boy was admitted febrile with abdominal and joint pain. At clinical investigation, he presented with anemia, splenomegaly, low white blood cell count and 92% lymphoblast. He was diagnosed with pre-B ALL and treated according to high risk GBTLI-ALL2009. Twelve months after complete remission, he developed a relapse in consequence of a high central nervous system and bone marrow infiltration, and unfortunately died. CONCLUSIONS:To our knowledge, this is the first report of a rearrangement between PAX5 and SPECC1. The presence of TCF3-PBX1 and PAX5-rearrangement at diagnosis and relapse indicates that both might have participated in the malignant transformation disease maintenance and dismal outcome.

Original publication

DOI

10.1186/s12920-018-0444-9

Type

Journal article

Journal

BMC medical genomics

Publisher

Springer Science and Business Media LLC

Publication Date

18/12/2018

Volume

11

Pages

122 - 122

Keywords

Male, DNA Mutational Analysis, Base Sequence, Chromosomes, Human, Pair 19, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Oncogene Proteins, Fusion, Gene Rearrangement, Recurrence, Chromosomes, Human, Pair 1, Karyotyping, Humans, Adolescent, PAX5 Transcription Factor, Translocation, Genetic, DNA Copy Number Variations