Advancing Therapies for Children and Adults with Rare Tumors or Genetic Tumor Predisposition Syndromes

This is the annual G. Burroughs Mider Lecture. Speaker Brigitte Widemann, M.D., is the chief of the National Cancer Institute ’ s Pediatric Oncology Branch. Trained as a pediatric oncologist with expertise in drug development and early clinical trials for children with refractory cancers she applied her expertise to study genetic tumor predisposition syndromes (GTPS), in particular neurofibromatosis type 1 (NF1) and very rare pediatric and adult solid tumors.For more information go tohttps://oir.nih.gov/walsAir date: 4/21/2021 3:00:00 PM
Source: Videocast - All Events - Category: General Medicine Tags: Upcoming Events Source Type: video

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mel In this Special Issue of Cancer, a series of 10 papers (seven papers, three reviews) on Neurofibromatosis is presented by international leaders in this field of research [...]
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Editorial Source Type: research
CONCLUSIONS: Pexidartinib in pediatric pts was well tolerated at all DL tested, achieved target inhibition and resulted in a weight based RPD2 dose. PMID: 32943455 [PubMed - as supplied by publisher]
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
Conclusionrs12190451 is located in a melanocyte ‐specific enhancer and may influenceRPS6KA2 expression in melanocytes —warranting further functional studies.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Neurofibromatosis type I (NF1) is an autosomal dominant genetic disorder associated with characteristic skin findings, as well as a fourfold increase in risk of malignancy. NF1 patient malignancies commonly include the central and peripheral nervous system, but these patients are also at high risk of developing gastrointestinal (GI) tumors. While most often these GI tumors are benign upper GI neurofibromas; clinicians should have a high suspicion for malignant tumors, degeneration into a malignant peripheral nerve sheath tumor or less common associated malignancies such as well-differentiated neuroendocri...
Source: The American Surgeon - Category: Surgery Authors: Tags: Am Surg Source Type: research
ute;via Rosset Neurofibromatosis type (NF1) is a syndrome characterized by varied symptoms, ranging from mild to more aggressive phenotypes. The variation is not explained only by genetic and epigenetic changes in the NF1 gene and the concept of phenotype-modifier genes in extensively discussed in an attempt to explain this variability. Many datasets and tools are already available to explore the relationship between genetic variation and disease, including systems biology and expression data. To suggest potential NF1 modifier genes, we selected proteins related to NF1 phenotype and NF1 gene ontologies. Protein&nda...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
Ulrich Schuhmann The presenting symptoms of the tumor suppressor gene syndrome neurofibromatosis type 2 (NF2) are often non-specific and unrelated to the disease hallmark bilateral vestibular schwannomas (VS). However, age at onset and presenting symptoms may have predictive values for the clinical course of VS. In this retrospective single-center study, we addressed this issue by reviewing 106 patients with 194 VS. Presenting symptoms attributable to VS commonly occur in 87% of adults and 31% of children. Age at onset significantly correlates with tumor volumes at presentation (p = 0.034). In addition, age at onset s...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
ld BK Abstract Neurofibromatosis type 1 (NF1) is a heritable cancer predisposition syndrome resulting from mutations in the NF1 tumor suppressor gene. Genotype-phenotype correlations for NF1 are rare due to the large number of NF1 mutations and role of modifier genes in manifestations of NF1; however, emerging reports suggest that persons with NF1 display a distinct anthropometric and metabolic phenotype featuring short stature, low body mass index (BMI), increased insulin sensitivity, and protection from diabetes. Nf1 heterozygous (Nf1+/-) mice accurately reflect the dominant inheritance of NF1 and are regularly ...
Source: Translational Research : the journal of laboratory and clinical medicine - Category: Laboratory Medicine Authors: Tags: Transl Res Source Type: research
Authors: Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Toss A Abstract BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li-Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz-Jeghers ...
Source: Journal of Oncology - Category: Cancer & Oncology Tags: J Oncol Source Type: research
Conclusion: The Keras-based machine learning technique showed the potential of robust diagnostic performance in the differentiation of craniofacial MPNSTs and benign neurofibromas in NF1 patients using CT images. However, the model has limited generalizability when applied to other body areas. With more clinical data accumulating in the model, this system may support clinical doctors in the primary screening of true MPNSTs from benign lesions in NF1 patients.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
We described the case of a young patient with NF2 treated for long time with Bevacizumab. Here, we report the update of the previous case report.
Source: Anti-Cancer Drugs - Category: Cancer & Oncology Tags: Case Reports Source Type: research
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