Publications by Sebastian Martin Waszak

The gut microbiome in pediatric diffuse midline gliomas: Correlative study results from the PNOC022 trial

10015 Background: The gut microbiome exerts a multifaceted influence on treatment outcomes across various cancers, yet its potential role in diffuse midline gliomas (DMGs) remains under-explored. In this report, we present the gut microbiome findings from ...

American Society of Clinical Oncology (ASCO)2025

The Germline and Somatic Origins of Prostate Cancer Heterogeneity

Sebastian Martin Waszak

Newly diagnosed prostate cancers differ dramatically in mutational composition and lethality. The most accurate clinical predictor of lethality is tumor tissue architecture, quantified as tumor grade. To interrogate the evolutionary origins of prostate can ...

AMER ASSOC CANCER RESEARCH2025

Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target

Sebastian Martin Waszak

Germline loss-of-function (LOF) variants in Elongator acetyltransferase complex subunit 1 (ELP1) are the most prevalent predisposing genetic events in childhood medulloblastoma (MB), accounting for ∼30% of the Sonic hedgehog (SHH) 3 subtype. The mechanism( ...

Elsevier BV2025

Germline analysis of an international cohort of pediatric diffuse midline glioma patients

Sebastian Martin Waszak

Factors that drive the development of diffuse midline gliomas (DMG) are unknown. Our study aimed to determine the prevalence of pathogenic/likely pathogenic (P/LP) germline variants in pediatric patients with DMG. We assembled an international cohort of 25 ...

Oxford University Press (OUP)2025

Isocitrate dehydrogenase 1 primes group-3 medulloblastomas for cuproptosis

Sebastian Martin Waszak

MYC-driven group-3 medulloblastomas (MBs) are malignant pediatric brain cancers without cures. To define actionable metabolic dependencies, we identify upregulation of dihydrolipoyl transacetylase (DLAT), the E2-subunit of pyruvate dehydrogenase complex (P ...

Elsevier BV2025

Genetic ancestry superpopulations show distinct prevalence and outcomes across pediatric central nervous system tumors from the Pediatric Brain Tumor Atlas and Pediatric Neuro-Oncology Consortium

Sebastian Martin Waszak

Background Central nervous system (CNS) tumors lead to cancer-related mortality in children. Genetic ancestry-associated cancer prevalence and outcomes have been studied but are limited. Methods We performed genetic ancestry prediction in 1,452 pediatric p ...

OXFORD UNIV PRESS INC2025

Somatic CpG hypermutation is associated with mismatch repair deficiency in cancer

Sebastian Martin Waszak

Somatic hypermutation in cancer has gained momentum with the increased use of tumour mutation burden as a biomarker for immune checkpoint inhibitors. Spontaneous deamination of 5-methylcytosine to thymine at CpG dinucleotides is one of the most ubiquitous ...

2024

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report

Sebastian Martin Waszak

We identified a rare heterozygous germline loss-of-function variant in the tumor necrosis factor receptor-associated factor 2 (TRAF2) in a young adult patient diagnosed with medulloblastoma. This variant is located within the TRAF-C domain of the E3 ubiqui ...

2024

RARE AND NOVEL KIAA1549-BRAF FUSION BREAKPOINTS PREDICT POOR CLINICAL OUTCOME FOR PATIENTS WITH RECURRENT OR PROGRESSIVE PEDIATRIC LOW-GRADE GLIOMA: PHASE II PNOC001 TRIAL RESULTS

Sebastian Martin Waszak

Oxford Univ Press Inc2023

Rational combination platform trial design for children and young adults with Diffuse Midline Glioma: a report from PNOC

Sebastian Martin Waszak

Diffuse midline glioma (DMG) is a devastating pediatric brain tumor unresponsive to hundreds of clinical trials. Approximately 80% of DMGs harbor H3K27M oncohistones, which reprogram the epigenome to increase the metabolic profile of the tumor cells. We ha ...

2023