Identification of the Philadelphia-like subgroup in Turkish pediatric patients with acute lymphoblastic leukemia
Annals of Hematology, cilt.105, sa.4, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 105 Sayı: 4
- Basım Tarihi: 2026
- Doi Numarası: 10.1007/s00277-026-06845-0
- Dergi Adı: Annals of Hematology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest)
- Anahtar Kelimeler: Philadelphia-like, Acute lymphoblastic leukemia, Pediatric, Gene expression profile, RT-qPCR
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Ph-like ALL, a high-risk subgroup of B-cell ALL, is associated with a poor prognosis. The genetic diversity observed across different ethnicities underscores the importance of population-specific studies to gain a deeper understanding of its genetic drivers and clinical outcomes. This study aims to characterize the Ph-like ALL group in Turkish pediatric B-ALL patients and evaluate our custom-developed gene panel for subgroup identification. To identify the Ph-like subgroup, RNA was isolated from 35 bone marrow samples, and targeted mRNA expression analysis was performed by RT-qPCR using a custom-designed panel consisting of 96 genes. Additionally, the Archer FusionPlex ALL Panel (ArcherDX, Boulder, CO) was employed for further evaluation of patients demonstrating the highest similarity rates. This study employed a gene panel designed to differentiate Turkish Ph-like ALL patients within the Ph-negative group, identifying two Ph-like cases (6%). The panel demonstrated 96.9% sensitivity and 93.9% specificity in detecting Ph-like ALL, highlighting its effectiveness in differential diagnosis. In the Ph-like cases, alterations in PAX5 (rs143723948, rs879020782) and IKZF1 (rs6975767) were observed. Both cases shared a novel EPOR variant (rs1312770718), with no known clinical impact. Additionally, a novel variantin the PTPN11 gene was interpreted as “Possibly Damaging”. This study introduces a gene profiling-based diagnostic approach for the Ph-like subgroup of pediatric B-ALL in Turkish patients. The integration of targeted tyrosine kinase inhibitors into treatment protocols, guided by the diagnostic algorithm, aims to improve prognosis and survival, advancing personalized management of Ph-like ALL.