A5053197785- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Cancer, Hypoxia, and Metabolism
- Chromatin Remodeling and Cancer
- Brain Metastases and Treatment
- Renal and related cancers
- Pituitary Gland Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Cancer-related Molecular Pathways
- Genomics and Rare Diseases
- Congenital Diaphragmatic Hernia Studies
- Neurofibromatosis and Schwannoma Cases
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Childhood Cancer Survivors' Quality of Life
- Ethics and Legal Issues in Pediatric Healthcare
- Sarcoma Diagnosis and Treatment
- Effects of Radiation Exposure
- Hedgehog Signaling Pathway Studies
- Inflammatory Biomarkers in Disease Prognosis
- Immune cells in cancer
- Soft tissue tumor case studies
- Tracheal and airway disorders
Baylor College of Medicine
2016-2025
Texas Children's Hospital
2017-2024
Children's Cancer Center
2009-2024
Cook Children's Medical Center
2017
Boston Children's Hospital
2013
Pediatrics and Genetics
2010
PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated mild phenotype without any externally visible tumors.MethodsA total of 135 from 103 unrelated families, carrying constitutional p.Met992del pathogenic variant and clinically assessed using...
Von Hippel‐Lindau disease is a rare inherited cancer‐predisposition syndrome. The authors report the updated recommendations for multiorgan surveillance protocols.
Abstract Hereditary retinoblastoma is a classic cancer predisposition syndrome with risks beginning in early infancy. About 45% of children (RB) have hereditary disease. These are at risk for both intraocular disease as well additional neoplasms throughout their lifetime. Germline pathogenic variants (GPVs) RB1 typically lead to bilateral disease, elevated trilateral RB, and subsequent malignant (non-ocular tumors), especially sarcomas melanomas. There further increased if radiation...
Abstract Background Glutathione S‐transferase (GST) enzymes are involved in detoxifying chemotherapy and clearing reactive oxygen species formed by radiation. We explored the relationship between host GSTP1 105 A > G polymorphism (rs1695), tumor GSTpi protein expression, clinical outcomes pediatric medulloblastoma. hypothesized that G‐allele increased expression would be associated with lower progression‐free survival fewer adverse events. Procedure The study included 106...
Abstract Manganese superoxide dismutase (Mn SOD ), encoded by the 2 gene, is involved in detoxification of anion. Superoxide likely a source oxidative stress cochlea following treatment with platinum agents and radiation. Therefore, we examined variants association ototoxicity among cisplatin‐treated childhood medulloblastoma patients. Blood samples were obtained from 71 eligible patients treated for pediatric at Texas Children's Cancer Center (1987–2010). Ototoxicity was defined as...
Ultra-hypermutation (>100 mutations/Mb) is rare in childhood cancer genomes and has been primarily reported patients with constitutional mismatch repair deficiency (CMMRD) caused by biallelic germline (MMR) gene mutations. We report a 5-yr-old child classic clinical features of CMMRD an ultra-hypermutated medulloblastoma retained MMR protein expression absence Mutational signature analysis tumor panel sequencing data revealed canonical DNA polymerase-deficiency-associated signature,...
Abstract Background Overgrowth syndromes (e.g., Beckwith–Wiedemann) are associated with an increased risk of pediatric cancer, although there few population‐based estimates risk. There also limited studies describing associations between other overgrowth features hepatosplenomegaly) and cancer. Therefore, cancer among children these conditions was evaluated data from a large, diverse registry linkage study. Methods This study includes all live births in Texas during the years 1999–2017....
Clinical variant analysis pipelines likely have poor sensitivity to the effects on splicing from variants beyond 10 20 bases of exon-intron boundaries. Here, we demonstrate value SpliceAI inform curation rare previously classified as benign/likely benign (B/LB) under current guidelines.
Ototoxicity is a common adverse side effect of platinum chemotherapy and cranial radiation therapy; however, individual susceptibility highly variable. Therefore, our objective was to conduct an epigenome-wide association study identify differentially methylated cytosine-phosphate-guanine (CpG) sites associated with ototoxicity among cisplatin-treated pediatric patients embryonal tumors.Samples were collected for discovery cohort (n = 62) replication 18) medulloblastoma primitive...
Pediatric oral squamous cell carcinoma is an extremely rare occurence. In our report, we describe a 6-year-old White female with sensorineural hearing loss found to have Connexin 26 gene mutation who developed well-differentiated of the hard palate metastatic disease submandibular lymph nodes and lungs. This association emphasizes need consider mutations in children develop monitor for mutations.
Individuals with PTEN Hamartoma Tumor Syndrome (PHTS) are at greatly increased risk for developing well-differentiated thyroid cancer. Specific circumstances in which total thyroidectomies should be considered have not been defined. A 14-year-old macrocephalic female history of developmental delay and lipoma over her left flank presented neck swelling was found multinodular goiter auto-immune thyroiditis. Asymptomatic tracheal narrowing also detected on initial diagnostic imaging. Later on,...
1517 Background: Li-Fraumeni syndrome (LFS) is a cancer predisposition associated with germline mutation in the TP53 tumor suppressor gene. As result of increased awareness and surveillance imaging, more asymptomatic low-grade brain lesions are being identified, raising important questions regarding management those patients. Sporadic gliomas (LGG) pediatric age rarely transform to malignant lesions, whereas prognosis high-grade (HGG) grim all groups. Although HGG hallmark LFS, little known...