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Pregled bibliografske jedinice broj: 811022

High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia


Othman, Moneeb A. K.; Melo, Joana B.; Carreira, Isabel M.; Rincic, Martina; Glaser, Anita; Grygalewicz, Beata; Gruhn, Bernd; Wilhelm, Kathleen; Rittscher, Katharina; Meyer, Britta et al.
High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia // Molecular Cytogenetics, 8 (2015) (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 811022 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia

Autori
Othman, Moneeb A. K. ; Melo, Joana B. ; Carreira, Isabel M. ; Rincic, Martina ; Glaser, Anita ; Grygalewicz, Beata ; Gruhn, Bernd ; Wilhelm, Kathleen ; Rittscher, Katharina ; Meyer, Britta ; Macedo Silva, Luiza Maria ; de Jesus Marques Salles, Terezinha ; Liehr, Thomas

Izvornik
Molecular Cytogenetics (1755-8166) 8 (2015);

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Multitude multicolor banding (mMCB); Acute lymphoblastic leukemia (ALL); Cryptic rearrangements; Fluorescence in situ hybridization (FISH); Multiplex ligation-dependent probe amplification (MLPA); Array-comparative genomic hybridization (aCGH)

Sažetak
Background: Acute lymphoblastic leukemia (ALL) is not a single uniform disease. It consists of several subgroups with different cytogenetic and molecular genetic aberrations, clinical presentations and outcomes. Banding cytogenetics plays a pivotal role in the detection of recurrent chromosomal rearrangements and is the starting point of genetic analysis in ALL, still. Nowadays, molecular (cyto)genetic tools provide substantially to identify previously non-detectable, so-called cryptic chromosomal aberrations in ALL. However, ALL according to banding cytogenetics with normal karyotype - in short cytogenetically normal ALL (CN-ALL) - represent up to similar to 50 % of all new diagnosed ALL cases. The overall goal of this study was to identify and characterize the rate of cryptic alterations in CN-ALL and to rule out if one single routine approach may be sufficient to detect most of the cryptic alterations present. Results: Sixty-one ALL patients with CN-ALL were introduced in this study. All of them underwent high resolution fluorescence in situ hybridization (FISH) analysis. Also DNA could be extracted from 34 ALL samples. These DNA-samples were studied using a commercially available MLPA (multiplex ligation-dependent probe amplification) probe set directed against 37 loci in hematological malignancies and/or array-comparative genomic hybridization (aCGH). Chromosomal aberrations were detected in 21 of 61 samples (similar to 34 %) applying FISH approaches: structural abnormalities were present in 15 cases and even numerical ones were identified in 6 cases. Applying molecular approaches copy number alterations (CNAs) were detected in 27/34 samples. Overall, 126 CNAs were identified and only 34 of them were detectable by MLPA (similar to 27 %). Loss of CNs was identified in similar to 80 % while gain of CNs was present in similar to 20 % of the 126 CNAs. A maximum of 13 aberrations was detected per case ; however, only one aberration per case was found in 8 of all in detail studied 34 cases. Of special interest among the detected CNAs are the following new findings: del(15)(q26.1q26.1) including CHD2 gene was found in 20 % of the studied ALL cases, dup(18)(q21.2q21.2) with the DCC gene was present in 9 % of the cases, and the CDK6 gene in 7q21.2 was deleted in 12 % of the here in detail studied ALL cases. Conclusions: In conclusion, high resolution molecular cytogenetic tools and molecular approaches like MLPA and aCGH need to be combined in a cost-efficient way, to identify disease and progression causing alterations in ALL, as majority of them are cryptic in banding cytogenetic analyses.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Martina Rinčić (autor)


Citiraj ovu publikaciju:

Othman, Moneeb A. K.; Melo, Joana B.; Carreira, Isabel M.; Rincic, Martina; Glaser, Anita; Grygalewicz, Beata; Gruhn, Bernd; Wilhelm, Kathleen; Rittscher, Katharina; Meyer, Britta et al.
High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia // Molecular Cytogenetics, 8 (2015) (međunarodna recenzija, članak, znanstveni)
Othman, M., Melo, J., Carreira, I., Rincic, M., Glaser, A., Grygalewicz, B., Gruhn, B., Wilhelm, K., Rittscher, K. & Meyer, B. (2015) High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia. Molecular Cytogenetics, 8.
@article{article, year = {2015}, keywords = {Multitude multicolor banding (mMCB), Acute lymphoblastic leukemia (ALL), Cryptic rearrangements, Fluorescence in situ hybridization (FISH), Multiplex ligation-dependent probe amplification (MLPA), Array-comparative genomic hybridization (aCGH)}, journal = {Molecular Cytogenetics}, volume = {8}, issn = {1755-8166}, title = {High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia}, keyword = {Multitude multicolor banding (mMCB), Acute lymphoblastic leukemia (ALL), Cryptic rearrangements, Fluorescence in situ hybridization (FISH), Multiplex ligation-dependent probe amplification (MLPA), Array-comparative genomic hybridization (aCGH)} }
@article{article, year = {2015}, keywords = {Multitude multicolor banding (mMCB), Acute lymphoblastic leukemia (ALL), Cryptic rearrangements, Fluorescence in situ hybridization (FISH), Multiplex ligation-dependent probe amplification (MLPA), Array-comparative genomic hybridization (aCGH)}, journal = {Molecular Cytogenetics}, volume = {8}, issn = {1755-8166}, title = {High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia}, keyword = {Multitude multicolor banding (mMCB), Acute lymphoblastic leukemia (ALL), Cryptic rearrangements, Fluorescence in situ hybridization (FISH), Multiplex ligation-dependent probe amplification (MLPA), Array-comparative genomic hybridization (aCGH)} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus





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