dc.contributor.author | Barbosa, TC | |
dc.contributor.author | Lopes, BA | |
dc.contributor.author | Blunck, CB | |
dc.contributor.author | Mansur, MB | |
dc.contributor.author | Deyl, AVS | |
dc.contributor.author | Emerenciano, M | |
dc.contributor.author | Pombo-de-Oliveira, MS | |
dc.coverage.spatial | England | |
dc.date.accessioned | 2023-09-19T09:54:06Z | |
dc.date.available | 2023-09-19T09:54:06Z | |
dc.date.issued | 2018-12-18 | |
dc.identifier | ARTN 122 | |
dc.identifier | 10.1186/s12920-018-0444-9 | |
dc.identifier.citation | BMC Medical Genomics, 2018, 11 (1), pp. 122 - | |
dc.identifier.issn | 1755-8794 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/5974 | |
dc.identifier.eissn | 1755-8794 | |
dc.identifier.eissn | 1755-8794 | |
dc.identifier.doi | 10.1186/s12920-018-0444-9 | |
dc.description.abstract | 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. | |
dc.format | Electronic | |
dc.format.extent | 122 - | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | BMC | |
dc.relation.ispartof | BMC Medical Genomics | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.subject | Near-triploidy karyotype | |
dc.subject | PAX5-SPECC1 | |
dc.subject | TCF3-PBX1 | |
dc.subject | der(9)t(9;17)(p13;q11.2) translocation | |
dc.subject | Adolescent | |
dc.subject | Base Sequence | |
dc.subject | Chromosomes, Human, Pair 1 | |
dc.subject | Chromosomes, Human, Pair 19 | |
dc.subject | DNA Copy Number Variations | |
dc.subject | DNA Mutational Analysis | |
dc.subject | Gene Rearrangement | |
dc.subject | Humans | |
dc.subject | Karyotyping | |
dc.subject | Male | |
dc.subject | Oncogene Proteins, Fusion | |
dc.subject | PAX5 Transcription Factor | |
dc.subject | Precursor Cell Lymphoblastic Leukemia-Lymphoma | |
dc.subject | Recurrence | |
dc.subject | Translocation, Genetic | |
dc.title | A novel PAX5 rearrangement in TCF3-PBX1 acute lymphoblastic leukemia: a case report. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2018-12-06 | |
dc.date.updated | 2023-09-19T09:49:37Z | |
rioxxterms.version | VoR | |
rioxxterms.versionofrecord | 10.1186/s12920-018-0444-9 | |
rioxxterms.licenseref.startdate | 2018-12-18 | |
rioxxterms.type | Journal Article/Review | |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/30563523 | |
pubs.issue | 1 | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Molecular Pathology/Biology of Childhood Leukaemia | |
pubs.publication-status | Published online | |
pubs.publisher-url | http://dx.doi.org/10.1186/s12920-018-0444-9 | |
pubs.volume | 11 | |
icr.provenance | Deposited by Dr Marcela Braga Mansur on 2023-09-19. Deposit type is initial. No. of files: 1. Files: A novel PAX5 rearrangement in TCF3-PBX1 acute lymphoblastic leukemia a case report.pdf | |