Prognostic gene alterations and clonal changes in childhood B-ALL
Yazarlar (14)
Yücel Erbilgin
Istanbul Üniversitesi, Türkiye
Sinem Fırtına
Istanbul Üniversitesi, Türkiye
Dr. Öğr. Üyesi Sevcan MERCAN
Kafkas Üniversitesi, Türkiye
Özden Hatırnaz Ng
Istanbul Üniversitesi, Türkiye
Serap Karaman
Istanbul Üniversitesi, Türkiye
Orçun Taşar
Istanbul Üniversitesi, Türkiye
Zeynep Karakaş
Istanbul Üniversitesi, Türkiye
Tülin Tıraje Celkan
İstanbul University-Cerrahpaşa Cerrahpaşa Faculty Of Medicine, Türkiye
Emine Zengin
Kocaeli Üniversitesi, Türkiye
Nazan Sarper
Kocaeli Üniversitesi, Türkiye
Zeynep Yıldız Yıldırmak
Sisli Hamidiye Etfal Education And Research Hospital, Türkiye
Sinem Şişko
Istanbul Üniversitesi, Türkiye
Uğur Özbek
Istanbul Üniversitesi, Türkiye
Müge Sayitoğlu
Istanbul Üniversitesi, Türkiye
| Makale Türü | Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale) | ||
| Dergi Adı | Leukemia Research (Q3) | ||
| Dergi ISSN | 0145-2126 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 12-2019 |
| Cilt / Sayı / Sayfa | 83 / 1 / 1–7 | DOI | 10.1016/j.leukres.2019.05.009 |
| Makale Linki | https://pubmed.ncbi.nlm.nih.gov/31228652/ | ||
| Özet |
| Genomic profiles of leukemia patients lead to characterization of variations that provide the molecular classification of risk groups, prediction of clinical outcome and therapeutic decisions. In this study, we examined the diagnostic (n = 77) and relapsed (n = 31) pediatric B-cell acute lymphoblastic leukemia (B-ALL) samples for the most common leukemia-associated gene variations CRLF2, JAK2, PAX5 and IL7R using deep sequencing and copy number alterations (CNAs) (CDKN2A/2B, PAX5, RB1, BTG1, ETV6, CSF2RA, IL3RA and CRLF2) by multiplex ligation proximity assay (MLPA), and evaluated for the clonal changes through relapse. Single nucleotide variations SNVs were detected in 19% of diagnostic 15.3% of relapse samples. The CNAs were detected in 55% of diagnosed patients; most common affected genes were CDKN2A/2B, PAX5, and CRLF2. Relapse samples did not accumulate a greater number of CNAs or SNVs than the cohort of diagnostic samples, but the clonal dynamics showed the accumulation/disappearance of specific gene variations explained the course of relapse. The CDKN2A/2B were most frequently altered in relapse samples and 32% of relapse samples carried at least one CNA. Moreover, CDKN2A/2B alterations and/or JAK2 variations were associated with decreased relapse-free survival. On the other hand, CRLF2 copy number alterations predicted a better survival rate in B-ALL. These findings contribute to the knowledge of CDKN2A/2B and CRLF2 alterations and their prognostic value in B-ALL. The integration of genomic data in clinical practice will enable better stratification of ALL patients and allow deeper understanding of the nature of relapse. |
| Anahtar Kelimeler |
| B-ALL | Copy number alteration | Relapse | Single nucleotide variation |
Science Direct
Prognostic gene alterations and clonal changes in childhood B-ALL
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| SCOPUS | 5 |
| Google Scholar | 9 |