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    Prognostic gene alterations and clonal changes in childhood B-ALL
    (Pergamon-Elsevier Science Ltd, 2019) Erbilgin, Yücel; Fırtına, Sinem; Mercan, Sevcan; Ng, Özden Hatırnaz; Karaman, Serap; Taşar, Orçun; Karakaş Zeybek, Didem; Celkan, Tulin Tiraje; Zengin, Emine; Sarper, Nazan; Yildirmak, Zeynep Yildiz; Şişko, Sinem; Özbek, Uğur; Sayitoğlu, Müge
    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.
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    Risk factors for neurologic sequelae in children and adolescents with hemophilia after intracranial hemorrhage
    (Elsevier B.V., 2024) Evim, Melike Sezgin; Ünüvar, Ayşegül; Albayrak, Canan; Zengin, Emine; Yılmaz, Ebru; Kaya, Zühre; Karadaş, Nihal; Ertekin, Mehtap; Üzel, Hülya; Özdemir, Gül Nihal; Albayrak, Davut; Küpesiz, Funda Tayfun
    Background: Intracranial hemorrhage (ICH) is reportedly rare but has high morbidity and mortality risk in persons with hemophilia. Although the risk factors that facilitate bleeding are known, the factors affecting the sequelae are not well known. Objectives: We planned to investigate the risk factors for neurologic sequelae in children and adolescents with hemophilia suffering from ICH. Methods: An invitation was sent to pediatric hematology centers via email. Clinical and laboratory findings, neurologic sequelae, and recurrence of bleeding in persons with hemophilia who developed ICH were questioned. Results: Eighty-six patients from 21 centers were evaluated. All patients were less than 18 years of age at the time of ICH. Thirteen patients had ICH in the neonatal period, while 40 patients had a known diagnosis of hemophilia before ICH, and 33 patients were undiagnosed before ICH. Five patients died, 2 of whom died in the neonatal period. The rate of neurologic sequelae was 25 of 81 (30%). The most common neurologic sequela was epilepsy (n = 11/25), followed by hemiparesis (n = 5/25). Cerebral shift (odds ratio, 3.48) and development of ICH in the neonatal period (odds ratio, 4.67) were significant for the development of neurologic sequelae in multivariate analysis. On follow-up, recurrence of ICH occurred in 8 of 81 (10%). Conclusion: ICH in the neonatal period and cerebral shift were the two main risk factors for the development of neurologic sequelae. Neonatal departments must be alert to the signs of bleeding. It is important for healthcare professionals to overcome the barriers to primary prophylaxis and to take trauma-related precautions. © 2024 The Author(s)
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    Status of IKZF1 deletions in diagnose and relapsed pediatric B-ALL patients
    (Springer, 2025) Erbilgin, Yücel; Fırtına, Sinem; Kırat, Elif; Khodzhaev, Khusan; Karakaş, Zeynep; Ünüvar, Ayşegül; Ocak, Süheyla; Celkan, Tülin Tiraje; Zengin, Emine; Aylan Gelen, Sema; Yıldırmak, Zeynep Yıldız; Toluk, Özlem; Hatırnaz Ng, Özden; Özbek, Uğur; Sayitoğlu, Müge
    IKZF1 deletions (Delta IKZF1) are common in precursor B-cell acute lymphoblastic leukemia (B-ALL) and are assumed to have a prognostic impact. We aimed to determine the prognostic implications of Delta IKZF1 and CRLF2 overexpression in pediatric B-ALL. Furthermore, we sought to compare the multiplex polymerase chain reaction (PCR) assay with standard multiplex ligand-dependent probe amplification (MLPA) methods to ascertain IKZF1 status in a clinical context. Seventy-nine diagnoses and 43 relapse B-ALL samples were evaluated for deletions of IKZF1 Delta 2-7, Delta 4-7, and Delta 4-8 by conventional PCR and then sequenced by targeted sequencing. Subsequently, MLPA analysis was performed for Delta IKZF1 detection, and CRLF2 expression was evaluated in 42 diagnose time B-ALL patients by QRT-PCR. Delta IKZF1 was detected in 10 out of 79 diagnose samples (12.66%) and eight of the 43 first relapsed materials (18.60%). Our results revealed no association between survival outcomes with Delta IKZF1 or CRLF2 overexpression status in pediatric B-ALL patients. However, we found Delta IKZF1 was more frequent among relapsed samples, and the deletions showed consistency between diagnose-first/second relapse pairs of samples. These results suggest that Delta IKZF1 may contribute to the development of treatment failure in B-ALL. Furthermore, we demonstrated methodological adjustments in conventional PCR and MLPA for selected alterations in Delta IKZF1.