Details

Autor(en) / Beteiligte

• Hiemenz, Matthew C
• Ostrow, Dejerianne G
• Busse, Tracy M
• Buckley, Jonathan
• Maglinte, Dennis T
• Bootwalla, Moiz
• Done, James
• Ji, Jianling
• Raca, Gordana
• Ryutov, Alex
• Xu, Xinjie
• Zhen, Chao Jie
• Conroy, Jeffrey M
• Hazard, Florette K
• Deignan, Joshua L
• Rogers, Beverly B
• Treece, Amanda L
• Parham, David M
• Gai, Xiaowu
• Judkins, Alexander R
• Triche, Timothy J
• Biegel, Jaclyn A

Titel

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies

Ist Teil von

• The Journal of molecular diagnostics : JMD, 2018-11, Vol.20 (6), p.765-776

Ort / Verlag

United States

Erscheinungsjahr

2018

Quelle

Electronic Journals Library

Beschreibungen/Notizen

• The OncoKids panel is an amplification-based next-generation sequencing assay designed to detect diagnostic, prognostic, and therapeutic markers across the spectrum of pediatric malignancies, including leukemias, sarcomas, brain tumors, and embryonal tumors. This panel uses low input amounts of DNA (20 ng) and RNA (20 ng) and is compatible with formalin-fixed, paraffin-embedded and frozen tissue, bone marrow, and peripheral blood. The DNA content of this panel covers the full coding regions of 44 cancer predisposition loci, tumor suppressor genes, and oncogenes; hotspots for mutations in 82 genes; and amplification events in 24 genes. The RNA content includes 1421 targeted gene fusions. We describe the validation of this panel by using a large cohort of 192 unique clinical samples that included a wide range of tumor types and alterations. Robust performance was observed for analytical sensitivity, reproducibility, and limit of detection studies. The results from this study support the use of OncoKids for routine clinical testing of a wide variety of pediatric malignancies.