ArticlePediatric blood & cancer2022
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Article in Pediatric blood & cancer, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Prevalence and Clinical Significance of Adult-Onset Cancer Predisposition Variants in Pediatric Oncology.medRxiv : the preprint server for health sciences · 2026Article
- Mortality after colorectal cancer among survivors of childhood cancer.Journal of the National Cancer Institute · 2026Article
- Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes.JCO precision oncology · 2025Article
- Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.JCO precision oncology · 2025Article
- Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Article
- Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.European radiology · 2024Article
- Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study.JCO precision oncology · 2024Article
- Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- The evolutionary impact of childhood cancer on the human gene pool.Nature communications · 2024Article
- Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity.Genetics in medicine open · 2024Article
- Reply to Evans and Woodward.Journal of the National Cancer Institute · 2023Article
- Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.Frontiers in genetics · 2022Article
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19 authors at 1 institution in 1 country.
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Abstract
backgroundThe association of childhood cancer with Lynch syndrome is not established compared with the significant pediatric cancer risk in recessive constitutional mismatch repair deficiency syndrome (CMMRD). PROCEDURE: We describe the clinical features, germline analysis, and tumor genomic profiling of patients with Lynch syndrome among patients enrolled in pediatric cancer genomic studies.
resultsThere were six of 773 (0.8%) pediatric patients with solid tumors identified with Lynch syndrome, defined as a germline heterozygous pathogenic variant in one of the mismatch repair (MMR) genes (three with MSH6, two with MLH1, and one with MSH2). Tumor analysis demonstrated evidence for somatic second hits and/or increased tumor mutation burden in three of four patients with available tumor with potential implications for therapy and identification of at-risk family members. Only one patient met current guidelines for pediatric cancer genetics evaluation at the time of tumor diagnosis.
conclusionApproximately 1% of children with cancer have Lynch syndrome, which is missed with current referral guidelines, suggesting the importance of adding MMR genes to tumor and hereditary pediatric cancer panels. Tumor analysis may provide the first suggestion of an underlying cancer predisposition syndrome and is useful in distinguishing between Lynch syndrome and CMMRD.
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