Browsing by Author "Ay Y."

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    Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study
    (John Wiley and Sons Inc, 2023) Guzelkucuk Z.; Karapınar D.Y.; Gelen S.A.; Tokgoz H.; Ozcan A.; Ay Y.; Bahadır A.; Ozbek N.Y.; Oren A.C.; Ayhan A.C.; Akyay A.; Akıncı B.; Karadas N.; Unuvar A.; Oren H.; Fettah A.; Kaya Z.; Isık B.; Eker İ.; Karaman S.; Yıldırım A.T.; Orhan M.F.; Oymak Y.; Timur C.; Yazici N.; Simsek A.; Karakurt N.; Toret E.; Evim M.S.
    Background: In patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients. Procedure: Pediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Türkiye. The demographic characteristics of the patients, symptoms associated with thrombosis, the stage of the leukemia treatment during thrombosis, the anticoagulant therapy applied for thrombosis, and the final status of the patients recorded through electronic medical records were determined. Results: Data from 70 patients with CNS thrombosis during treatment, out of 3968 pediatric patients with ALL, were reviewed. The incidence of CNS thrombosis was 1.8% (venous: 1.5 %; arterial: 0.03%). Among patients with CNS thrombosis, 47 had the event in the first 2 months. Low molecular weight heparin (LMWH) was the most commonly used treatment with a median of 6 months (min–max: 3–28 months). No treatment-related complications occurred. Chronic thrombosis findings occurred in four patients (6%). In five (7%) patients who developed cerebral vein thrombosis, neurological sequelae (epilepsy and neurological deficit) remained. One patient died related to thrombosis, and the mortality rate was 1.4%. Conclusion: Cerebral venous thrombosis and, less frequently, cerebral arterial thrombosis may develop in patients with ALL. The incidence of CNS thrombosis is higher during induction therapy than during other courses of treatment. Therefore, patients receiving induction therapy should be monitored carefully for clinical findings suggestive of CNS thrombosis. © 2023 Wiley Periodicals LLC.
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    Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
    (John Wiley and Sons Inc, 2024) Isik E.; Aydinok Y.; Albayrak C.; Durmus B.; Karakas Z.; Orhan M.F.; Sarper N.; Aydın S.; Unal S.; Oymak Y.; Karadas N.; Turedi A.; Albayrak D.; Tayfun F.; Tugcu D.; Karaman S.; Tobu M.; Unal E.; Ozcan A.; Unal S.; Aksu T.; Unuvar A.; Bilici M.; Azik F.; Ay Y.; Gelen S.A.; Zengin E.; Albudak E.; Eker I.; Karakaya T.; Cogulu O.; Ozkinay F.; Atik T.
    Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success. © 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.