Ines B. Brecht

Copy Number Analysis in Congenital Nevi: Concordance and Diagnostic Limitations of aCGH, sWGS, and Methylation Profiling

Anton Sergeevich Karelin, Ines B. Brecht, Michaela Pogoda, German Demidov et autres

ABSTRACT Background Distinguishing benign proliferative nodules (PNs) from melanoma arising within congenital melanocytic nevi remains a major diagnostic challenge. Copy number alteration (CNA) analysis is widely used to support classification, but current criteria were developed using array comparative genomic hybridization (aCGH). The …

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Pharmacokinetics and Safety of Selumetinib Granule Formulation in Children With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas (SPRINKLE; phase I/II)

Pablo Hernáiz Driever, Uwe R. Kordes, Ines B. Brecht, Veronica Saletti et autres

PURPOSE Neurofibromatosis type 1 (NF1)–associated plexiform neurofibroma (PN) can substantially affect quality of life. The capsule and granule formulations of selumetinib (ARRY-142886, AZD6244) are approved for pediatric patients with symptomatic, inoperable NF1-PN (age ≥1 to 3 years, region dependent). SPRINKLE (ClinicalTrials.gov identifier: …

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Constitutional variants in PTEN: a frequent finding in patients with papillary tumors of the pineal region subtype B (PTPR-B) associated with isolated loss of chromosome 10

Steffen Hirsch, Ramin Rahmanzade, Kerstin Grund, Christian Sutter et autres

Paediatric very rare tumours registration and management in European countries with low health expenditure average rates

Ines B. Brecht