Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/106456
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Wafa, Abdulsamad | - |
dc.contributor.author | Jarjour, Rami A. | - |
dc.contributor.author | Aljapawe, Abdulmunim | - |
dc.contributor.author | ALmedania, Suher | - |
dc.contributor.author | Liehr, Thomas | - |
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 | 2023-04-04T08:38:10Z | - |
dc.date.available | 2023-04-04T08:38:10Z | - |
dc.date.issued | 2020 | - |
dc.identifier.issn | 1755-8166 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/106456 | - |
dc.description.abstract | Background: About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal abnormality or can be masked within complex rearrangements; also, a dicentric dic(9;20) is often associated with mono- or biallelic loss of CDKN2A gene. Case presentation: Here we report a case of 16-year-old male diagnosed with a de novo pre-B-ALL. Molecular approaches (array-based multicolor banding (aMCB) and array comparative genomic hybridization (aCGH)) were applied, and a unique complex karyotype involving six chromosomes was identified. It included three previously unreported chromosomal aberrations: dicentric dic(9;20;X), deletion del(7)(p22.2p15.2) and dicentric dic(7;13). The dicentric dic(9;20;X) also led to monoallelic loss of tumor suppressor gene CDKN2A. After successful chemotherapeutic treatment the patient experienced a relapse with a secondary ALL without complex karyotype but a deletion del(19)(p13). Unfortunately, the patient died after 17 months of the initial diagnosis. Conclusions: To the best of our knowledge, a comparable childhood ALL associated with such complex karyotype and deletion del(19)(p13) in secondary ALL was not previously reported. Thus, the complex karyotype with dicentrc dic(9;20;X) seems to indicate for a poor 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 | pt |
dc.subject | Complex karyotype | pt |
dc.subject | Dicentric dic(9;20) | pt |
dc.subject | Array-based multicolor banding (aMCB) | pt |
dc.subject | Array comparative genomic hybridization (aCGH | pt |
dc.subject | Prognostic factors | pt |
dc.title | An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case | pt |
dc.type | article | - |
degois.publication.firstPage | 29 | pt |
degois.publication.issue | 1 | pt |
degois.publication.title | Molecular Cytogenetics | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1186/s13039-020-00499-x | pt |
degois.publication.volume | 13 | pt |
dc.date.embargo | 2020-01-01 | * |
uc.date.periodoEmbargo | 0 | pt |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.languageiso639-1 | en | - |
item.openairetype | article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | Com Texto completo | - |
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 |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
An-acquired-stable-variant-of-a-dicentric-dic920-and-complex-karyotype-in-a-Syrian-childhood-Bacute-lymphoblastic-leukemia-caseMolecular-Cytogenetics.pdf | 1.45 MB | Adobe PDF | View/Open |
Page view(s)
56
checked on May 8, 2024
Download(s)
14
checked on May 8, 2024
Google ScholarTM
Check
Altmetric
Altmetric
This item is licensed under a Creative Commons License