Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/106457
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Wafa, Abdulsamad | - |
dc.contributor.author | Jarjour, Rami A | - |
dc.contributor.author | Alolabi, Doaa | - |
dc.contributor.author | Liehr, Thomas | - |
dc.contributor.author | Hamdan, Othman | - |
dc.contributor.author | Melo, Joana B. | - |
dc.contributor.author | Carreira, Isabel M. | - |
dc.contributor.author | Othman, Moneeb A. K. | - |
dc.contributor.author | Al-Achkar, Walid | - |
dc.date.accessioned | 2023-04-04T08:48:25Z | - |
dc.date.available | 2023-04-04T08:48:25Z | - |
dc.date.issued | 2020 | - |
dc.identifier.issn | 1755-8166 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/106457 | - |
dc.description.abstract | Background: B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL cases harbor recurrent abnormalities, including so-called complex karyotypes (CK). Tumor lysis syndrome (TLS) is a metabolic abnormality which may arise during cancer therapy and also, extremely rarely, as spontaneous TLS before initiation of chemotherapy in patients with ALL. Case presentation: Here we report a 9-year-old male, diagnosed with a de novo pre-B-ALL according to the WHO classification. Cytogenetic, molecular cytogenetic approaches and array comparative genomic hybridization analyses revealed a unique CK involving five chromosomes. It included four yet unreported chromosomal aberrations: a der(11)t(7;11)(p22.1;q24.2), a der(18)t(7;18)(q21.3;p11.22), del(11)(q24.2q25) and dup(18)(q11.1q23). Unfortunately, the patient died 3 months after the initial diagnosis. Conclusions: To the best of our knowledge, a comparable childhood ALL case was not previously reported. Thus, the combination of the here seen chromosomal aberrations in childhood primary ALL seems to indicate for an extremely adverse prognosis. | pt |
dc.language.iso | eng | pt |
dc.publisher | Springer Nature | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt |
dc.subject | Acute lymphoblastic leukemia (ALL) | pt |
dc.subject | Complex karyotype (CK) | pt |
dc.subject | Molecular cytogenetics | pt |
dc.subject | Array comparative genomic hybridization (aCGH) | pt |
dc.subject | Tumor lysis syndrome (TLS) | pt |
dc.subject | Prognostic factors | pt |
dc.title | A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome | pt |
dc.type | article | - |
degois.publication.firstPage | 44 | pt |
degois.publication.issue | 1 | pt |
degois.publication.title | Molecular Cytogenetics | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1186/s13039-020-00512-3 | pt |
degois.publication.volume | 13 | pt |
dc.date.embargo | 2020-01-01 | * |
uc.date.periodoEmbargo | 0 | pt |
item.fulltext | Com Texto completo | - |
item.grantfulltext | open | - |
item.languageiso639-1 | en | - |
item.cerifentitytype | Publications | - |
item.openairetype | article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0001-6842-1707 | - |
Appears in Collections: | FMUC Medicina - Artigos em Revistas Internacionais |
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A-new-childhood-ALL-case-with-an-extremely-complex-karyotype-and-acute-spontaneous-tumor-lysis-syndromeMolecular-Cytogenetics.pdf | 880.58 kB | Adobe PDF | View/Open |
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This item is licensed under a Creative Commons License