A novel PAX5 rearrangement in TCF3-PBX1 acute lymphoblastic leukemia: a case report
| Autor: | Caroline Barbieri Blunck, Bruno Almeida Lopes, Mariana Emerenciano, Marcela B. Mansur, Maria S. Pombo-de-Oliveira, Thayana Conceição Barbosa, Adriana Vanessa Santini Deyl |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine lcsh:Internal medicine TCF3-PBX1 lcsh:QH426-470 Adolescent DNA Copy Number Variations Oncogene Proteins Fusion Anemia DNA Mutational Analysis Case Report Somatic evolution in cancer Translocation Genetic Malignant transformation 03 medical and health sciences Exon Recurrence hemic and lymphatic diseases Genetics Humans Medicine lcsh:RC31-1245 Genetics (clinical) Gene Rearrangement Base Sequence der(9)t(9 17)(p13 q11.2) translocation business.industry PAX5-SPECC1 Lymphoblast PAX5 Transcription Factor Karyotype Precursor Cell Lymphoblastic Leukemia-Lymphoma medicine.disease lcsh:Genetics Near-triploidy karyotype Leukemia 030104 developmental biology Chromosomes Human Pair 1 Karyotyping Concomitant Cancer research business Chromosomes Human Pair 19 |
| Zdroj: | BMC Medical Genomics BMC Medical Genomics, Vol 11, Iss 1, Pp 1-5 (2018) |
| ISSN: | 1755-8794 |
| DOI: | 10.1186/s12920-018-0444-9 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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