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Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature.
Biomed Rep
March 2025
Circulating Biomarkers Laboratory, Pathology Department, Faculty of Medical Sciences, Rio de Janeiro State University, Rio de Janeiro 20550-170, Brazil.
Osteosarcoma (OS) is the most common malignant bone tumor affecting adolescents and young adults and it usually occurs in the long bones of the extremities. The detection of cancer-related genetic alterations has a growing effect in guiding diagnosis, prognosis and targeted therapies. However, little is known about the molecular aspects involved in the etiology and progression of OS, which limits options for targeted therapies.
View Article and Find Full Text PDFPrecision Medicine for High-Risk Gene Fusions in Pediatric AML: a focus on KMT2A, NUP98, and GLIS2 Rearrangements.
Blood
January 2025
Children's Hospital of Philadelphia & University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States.
Robust genetic characterization of paediatric AML has demonstrated that fusion oncogenes are highly prevalent drivers of AML leukemogenesis in young children. Identification of fusion oncogenes associated with adverse outcomes has facilitated risk stratification of patients, although successful development of precision medicine approaches for most fusion-driven AML subtypes have been historically challenging. This knowledge gap has been in part due to difficulties in targeting structural alterations involving transcription factors and in identification of a therapeutic window for selective inhibition of the oncofusion without deleterious effects upon essential wild-type proteins.
View Article and Find Full Text PDFRisk factors of disease severity and mechanical ventilation requirement in childhood Guillain-Barré Syndrome.
Turk J Pediatr
December 2024
Department of Pediatric Neurology, Faculty of Medicine, İnönü University, Malatya, Türkiye.
Background: This study aimed to investigate the risk factors associated with the severity of the disease, the need for mechanical ventilation (MV) and poor prognosis in the early stages of Guillain-Barré Syndrome (GBS).
Methods: Data of children who met GBS diagnostic criteria were evaluated retrospectively. The sample was divided into three binary subgroups according to severe GBS (Hughes Functional Grading Scale [HFGS] ≥ 4 at admission), mechanical ventilation (MV) requirement, and poor prognosis (inability to walk independently, HFGS ≥ 3 after six months).
The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.
Turk J Pediatr
December 2024
Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Türkiye.
Background: The management of pediatric acute myeloid leukemia (AML) is based on the prognostic risk classification of initial leukemia. Targeted next-generation sequencing (NGS) is a reliable method used to identify recurrently mutated genes of pediatric AML and associated prognosis.
Methods: In this study, we retrospectively evaluated the prognostic, and therapeutic utility of a targeted NGS panel covering twenty-five genes, in 21 children with de novo and 8 with relapsed or secondary AML.
Primary breast Burkitt lymphoma with lactic acidosis in a child: a case report.
Turk J Pediatr
December 2024
Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Background: Primary breast lymphoma is extremely rare and constitutes approximately 1% of all non-Hodgkin's lymphomas (NHL). Only 1-5% of them are Burkitt type. We present a case of childhood primary breast Burkitt lymphoma (BL).
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