Molecular profiling of pediatric and adolescent ependymomas: identification of genetic variants using a next-generation sequencing panel

Corrêa, Débora Cabral de Carvalho; Tesser-Gamba, Francine; Oliveira, Indhira Dias; Silva, Nasjla Saba da; Capellano, Andrea Maria; Alves, Maria Teresa de Seixas; Silva, Frederico Adolfo Benevides; Dastoli, Patricia Alessandra; Cavalheiro, Sérgio; Toledo, Sílvia Regina Caminada de

doi:10.1007/s11060-021-03848-x

Cited by 4 publications

(2 citation statements)

References 44 publications

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“…Putative driver variants that were exclusive to the relapse included truncating variants in ARID1A (p.Gln802SerfsTer15), ASXL1 (p.Gly646TrpfsTer12) and CIC (p.Leu510ThrfsTer4, p.Leu1249ThrfsTer6) (Table S1 ). Though variants in ASXL1 and CIC have been reported previously in posterior fossa ependymomas [ 18 ], all three variants resided at repetitive homopolymer loci, and it is unclear if they confer a selective advantage or are benign passenger mutations accumulating as a result of defective MMR. We did not detect any notable variants in CXorf67 or the histone H3 genes [ 18 , 19 , 20 ], nor did we detect any TP53 and MAPK pathway aberrations that we have previously described in gliomas arising in children with CMMRD [ 21 ].…”

Section: Figurementioning

confidence: 99%

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)

Briggs

Das

Firth

et al. 2022

Neuropathology Appl Neurobio

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Section: Figurementioning

confidence: 99%

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)

Briggs

Das

Firth

et al. 2022

Neuropathology Appl Neurobio

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“…Another major area of translational research for cancer patients has been molecular analysis and genetic testing, which enable scientists to identify the genomic vulnerabilities of tumors, understand tumor evolution, discover mechanisms of resistance and develop individualized therapies (11). In Latin America, traditionally these studies have been limited by economic constraints and a lack of investment in translational and clinical research; however, during the past decade, advances in these areas have been noted and should be reviewed to promote treatment tailored to individual needs (12)(13)(14)(15)(16)(17).…”

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confidence: 99%

The importance of basic and translational research in caring for children with malignant solid tumors in Latin America

Cancela,

Dinardi,

Aschero

et al. 2024

Revista Panamericana De Salud Pública

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Objective. Basic and translational research in pediatric cancer are essential to improve patient care. To critically assess the developments achieved in these areas in Latin America, we systematically reviewed information published between 2013 and 2023. Methods. Studies of basic and translational research performed by investigators in Latin America evaluating pediatric malignant solid and central nervous system tumors were retrieved from PubMed. Original articles published in English between 2013 and 2023 were included. Collaborations among Latin American authors or among Latin American authors working with researchers from other continents were also included. Studies were excluded if they focused only on adults or on basic research in tumor biology not specifically related to the tumor types analyzed in this review. Results. A total of 550 articles were retrieved, but after removal of duplicates, 514 articles were included in the analysis, the majority of which were authored by researchers affiliated with institutions in Argentina, Brazil and Mexico. These countries also had the highest number of collaborations on original articles published with authors from Europe and North America. Argentina had the highest number of collaborations on original publications, with coauthors from Brazil and Uruguay. The median impact factor of the 244 journals in which articles were published was 3.5. The most commonly studied tumors were osteosarcomas, neuroblastomas and medulloblastomas; the most commonly studied areas were molecular analysis, tumor cell biology and biomarkers. Conclusions. In Latin America, research in pediatric oncology is on the agenda, despite a notable disparity in publication rates and frequency of collaboration between countries. There is a need to strengthen scientific collaboration within Latin America and with countries from other continents to promote research and to develop novel treatment strategies that reflect the local needs of children in Latin America who have solid tumors and brain cancer.

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Pediatric Infratentorial Tumors’ Treatment in the Molecular Era

da Costa,

Soares,

Betta

et al. 2024

Interdisciplinary Cancer Research

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Molecular profiling of pediatric and adolescent ependymomas: identification of genetic variants using a next-generation sequencing panel

Cited by 4 publications

References 44 publications

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)

Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)

The importance of basic and translational research in caring for children with malignant solid tumors in Latin America

Pediatric Infratentorial Tumors’ Treatment in the Molecular Era

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