Utilize este identificador para referenciar este registo:
https://hdl.handle.net/10316/27654
Campo DC | Valor | Idioma |
---|---|---|
dc.contributor.author | Othman, Moneeb A. K. | - |
dc.contributor.author | Rincic, Martina | - |
dc.contributor.author | Melo, Joana B. | - |
dc.contributor.author | Carreira, Isabel M. | - |
dc.contributor.author | Alhourani, Eyad | - |
dc.contributor.author | Hunstig, Friederike | - |
dc.contributor.author | Glaser, Anita | - |
dc.contributor.author | Liehr, Thomas | - |
dc.date.accessioned | 2014-11-17T14:15:58Z | - |
dc.date.available | 2014-11-17T14:15:58Z | - |
dc.date.issued | 2014 | - |
dc.identifier.citation | OTHMAN, Moneeb A. K. [et. al] - A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia. "Leukemia Research and Treatment". ISSN 2090-3227. (2014) | por |
dc.identifier.issn | 2090-3227 | - |
dc.identifier.uri | https://hdl.handle.net/10316/27654 | - |
dc.description.abstract | Acute leukemia often presents with pure chromosomal resolution; thus, aberrations may not be detected by banding cytogenetics. Here, a case of 26-year-old male diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) and a normal karyotype after standard GTG-banding was studied retrospectively in detail by molecular cytogenetic and molecular approaches. Besides fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and high resolution array-comparative genomic hybridization (aCGH) were applied. Thus, cryptic chromosomal aberrations not observed before were detected: three chromosomes were involved in a cytogenetically balanced occurring translocation t(2;9;18)(p23.2;p21.3;q21.33). Besides a translocation t(10;14)(q24;q11) was identified, an aberration known to be common in T-ALL. Due to the three-way translocation deletion of tumor suppressor genes CDKN2A/INK4A/p16, CDKN2B/INK4B/p15, and MTAP/ARF/p14 in 9p21.3 took place. Additionally RB1 in 13q14 was deleted. This patient, considered to have a normal karyotype after low resolution banding cytogenetics, was treated according to general protocol of anticancer therapy (ALL-BFM 95). | por |
dc.language.iso | eng | por |
dc.publisher | Hindawi Publishing Corporation | por |
dc.rights | openAccess | por |
dc.title | A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia | por |
dc.type | article | por |
degois.publication.title | Leukemia Research and Treatment | por |
dc.relation.publisherversion | http://www.hindawi.com/journals/lrt/2014/357123/ | por |
dc.peerreviewed | Yes | por |
dc.identifier.doi | 10.1155/2014/357123 | - |
uc.controloAutoridade | Sim | - |
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.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0001-5049-2670 | - |
crisitem.author.orcid | 0000-0001-6842-1707 | - |
Aparece nas coleções: | FMUC Medicina - Artigos em Revistas Internacionais |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
---|---|---|---|---|
A Novel Cryptic Three-Way Translocation.pdf | 1.9 MB | Adobe PDF | Ver/Abrir |
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