Observational studyNeuro-oncology2020
Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.
Observational study in Neuro-oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed.
- Bridging pediatric and adult neuro-oncology: Insights into adolescents and young adults (AYA) central nervous system tumors.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.Journal of Korean Neurosurgical Society · 2025Article
- Genomic landscape of medulloblastoma subtypes in an Asian cohort.Translational cancer research · 2024Article
- Heterogeneity of tumor microenvironment cell groups in inflammatory and adenomatous polyposis coli mutant colorectal cancer based on single cell sequencing.Translational cancer research · 2024Article
- Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors.International journal of molecular sciences · 2023Article
- Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.Translational pediatrics · 2023Article
- Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.Acta neuropathologica · 2022Article
- Cross-Talk between p53 and Wnt Signaling in Cancer.Biomolecules · 2022Review
- Identification and Functional Analysis of a NovelCancers · 2022Article
- Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care.Frontiers in pediatrics · 2022Review
- Genetic syndromes predisposing to pediatric brain tumors.Neuro-oncology practice · 2021Review
- Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.Diagnostics (Basel, Switzerland) · 2021Article
- Genetic predisposition in pediatric oncology.Medicine and pharmacy reports · 2020Review
- Less treatment for Wing less medulloblastoma: germline data re-emphasize this.Neuro-oncology · 2020Article
- Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.Frontiers in oncology · 2020Review
Corrections and comments
- Commented on by
Authors and funding
27 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMedulloblastomas may occur in a predisposition context, including familial adenomatosis polyposis. Medulloblastomas related to a germline pathogenic variant of adenomatous polyposis coli (APC) remain rare and poorly described. Their similarities with sporadic WNT medulloblastomas still require description.
methodsWe performed a multicentric retrospective review of 12 patients treated between 1988 and 2018 for medulloblastoma with an identified or highly suspected (personal or familial history) APC germline pathogenic variant. We report personal and familial history APC gene pathogenic variants whenever available: clinical and histologic characteristics of the medulloblastoma, treatments, and long-term outcome, including second tumor and late sequelae.
resultsMedulloblastomas associated with APC pathogenic variants are mainly classic (11/11 patients, 1 not available), nonmetastatic (10/12 patients) medulloblastomas, with nuclear immunoreactivity for ß-catenin (9/9 tested cases). Ten of 11 assessable patients are disease free with a median follow-up of 10.7 years (range, 1-28 y). Secondary tumors included desmoid tumors in 7 patients (9 tumors), 1 thyroid carcinoma, 2 pilomatricomas, 1 osteoma, 1 vertebral hemangioma, and 1 malignant triton in the radiation field, which caused the only cancer-related death in our series.
conclusionsMedulloblastomas associated with an APC pathogenic variant have an overall favorable outcome, even for metastatic tumors. Yet, long-term survival is clouded by second tumor occurrence; treatment may play some role in some of these second malignancies. Our findings raise the question of applying a de-escalation therapeutic protocol to treat patients with APC germline pathogenic variants given the excellent outcome, and reduced intensity of craniospinal irradiation may be further evaluated.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.