Advanced molecular neuropathology to increase diagnostic accuracy in pediatric neurooncology

To assess their utility in routine neuropathology, we prospectively integrated DNA methylation-based CNS tumor classification and targeted gene panel sequencing of tumor and constitutional DNA with blinded neuropathological reference diagnostics for a population-based cohort of > 1,200 newly-diagnosed pediatric patients.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001009855	Dataset containing 2068 WES tumor and control samples of central nervous system neoplasm patients. The data was sequenced on a Illumina NextSeq 500 using a NPHD2015A kit. The sequencing was always paired.	NextSeq 500	2068

Publications	Citations
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology. Sturm D, Capper D, Andreiuolo F, Gessi M, Kölsche C, Reinhardt A, Sievers P, Wefers AK, Ebrahimi A, Suwala AK, Gielen GH, Sill M, Schrimpf D, Stichel D, Hovestadt V, Daenekas B, Rode A, Hamelmann S, Previti C, Jäger N, Buchhalter I, Blattner-Johnson M, Jones BC, Warmuth-Metz M, Bison B, Grund K, Sutter C, Hirsch S, Dikow N, Hasselblatt M, Schüller U, Koch A, Gerber NU, White CL, Buntine MK, Kinross K, Algar EM, Hansford JR, Gottardo NG, Schuhmann MU, Thomale UW, Hernáiz Driever P, Gnekow A, Witt O, Müller HL, Calaminus G, Fleischhack G, Kordes U, Mynarek M, Rutkowski S, Frühwald MC, Kramm CM, von Deimling A, Pietsch T, Sahm F, Pfister SM, Jones DTW. Nat Med 29: 2023 917-926	88
A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas. Apfelbaum AA, Morin E, Sturm D, Ayoub G, DiGiacomo J, Bahadur S, Chandarana B, Power PC, Cusick MM, Novikov D, Prabhakar P, Jones RE, Vogelzang J, Bossi CC, Malinowski S, Woodward LM, Jones TA, Jeang J, Lamson SW, Collins J, Cai KY, Jones JS, Oh S, Jeon H, Wang J, Cameron A, Rechter P, De Leon A, Murugesan K, Montesion M, Albacker LA, Ramkissoon SH, van Tilburg CM, Hardin EC, Sievers P, Sahm F, Yeo KK, Rosenberg T, Chi SN, Wright KD, Hébert S, Peck S, Picca A, Larouche V, Renzi S, Buhrlage SJ, Bale TA, Smith AA, Touat M, Jabado N, Fischer ES, Eck MJ, Baird L, Witt O, Kleinman CL, Nguyen QD, Sheer D, Alexandrescu S, Jones DTW, Ligon KL, Bandopadhayay P. Nat Commun 16: 2025 7018	1

Publications

Citations

Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Sturm D, Capper D, Andreiuolo F, Gessi M, Kölsche C, Reinhardt A, Sievers P, Wefers AK, Ebrahimi A, Suwala AK, Gielen GH, Sill M, Schrimpf D, Stichel D, Hovestadt V, Daenekas B, Rode A, Hamelmann S, Previti C, Jäger N, Buchhalter I, Blattner-Johnson M, Jones BC, Warmuth-Metz M, Bison B, Grund K, Sutter C, Hirsch S, Dikow N, Hasselblatt M, Schüller U, Koch A, Gerber NU, White CL, Buntine MK, Kinross K, Algar EM, Hansford JR, Gottardo NG, Schuhmann MU, Thomale UW, Hernáiz Driever P, Gnekow A, Witt O, Müller HL, Calaminus G, Fleischhack G, Kordes U, Mynarek M, Rutkowski S, Frühwald MC, Kramm CM, von Deimling A, Pietsch T, Sahm F, Pfister SM, Jones DTW. Nat Med 29: 2023 917-926

A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas.
Apfelbaum AA, Morin E, Sturm D, Ayoub G, DiGiacomo J, Bahadur S, Chandarana B, Power PC, Cusick MM, Novikov D, Prabhakar P, Jones RE, Vogelzang J, Bossi CC, Malinowski S, Woodward LM, Jones TA, Jeang J, Lamson SW, Collins J, Cai KY, Jones JS, Oh S, Jeon H, Wang J, Cameron A, Rechter P, De Leon A, Murugesan K, Montesion M, Albacker LA, Ramkissoon SH, van Tilburg CM, Hardin EC, Sievers P, Sahm F, Yeo KK, Rosenberg T, Chi SN, Wright KD, Hébert S, Peck S, Picca A, Larouche V, Renzi S, Buhrlage SJ, Bale TA, Smith AA, Touat M, Jabado N, Fischer ES, Eck MJ, Baird L, Witt O, Kleinman CL, Nguyen QD, Sheer D, Alexandrescu S, Jones DTW, Ligon KL, Bandopadhayay P. Nat Commun 16: 2025 7018