There are few guidelines for genetic counseling and management of pediatric cancer patients with probable cancer predisposition. In this study, we used a previously proposed patient selection tool by Jongmans and discussed the findings in regard to pediatric cancer patients we treated. Pediatric solid tumor patients who were treated in Kocaeli University Department of Pediatric Oncology were evaluated with the five main questions in Jongmans' referral tool. All of the patients and records of diagnostic imaging were examined and analyzed. One-hundred-twenty-three patients participated in the study. The most common indication for genetic counseling was 'consanguinity of the parents' with '≥2 malignancies at childhood age' following it. Fifty-two (42.28%) patients had indication for genetic counseling. We recommend developing and using genetics counseling selection tools such as Jongmans' which helps clinicians differentiate patients with probable cancer predisposition.
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http://dx.doi.org/10.1016/j.ejmg.2021.104167 | DOI Listing |
Nat Commun
December 2024
Institute of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Pathogenic activating mutations in the fibroblast growth factor receptor 3 (FGFR3) drive disease maintenance and progression in urothelial cancer. 10-15% of muscle-invasive and metastatic urothelial cancer (MIBC/mUC) are FGFR3-mutant. Selective targeting of FGFR3 hotspot mutations with tyrosine kinase inhibitors (e.
View Article and Find Full Text PDFNat Commun
December 2024
Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
The mechanism(s) underlying gut microbial metabolite (GMM) contribution towards alcohol-mediated cardiovascular disease (CVD) is unknown. Herein we observe elevation in circulating phenylacetylglutamine (PAGln), a known CVD-associated GMM, in individuals living with alcohol use disorder. In a male murine binge-on-chronic alcohol model, we confirm gut microbial reorganization, elevation in PAGln levels, and the presence of cardiovascular pathophysiology.
View Article and Find Full Text PDFMetaplastic breast cancer (MpBC) is a highly chemoresistant subtype of breast cancer with no standardized therapy options. A clinical study in anthracycline-refractory MpBC patients suggested that nitric oxide synthase (NOS) inhibitor NG-monomethyl-l-arginine (L-NMMA) may augment anti-tumor efficacy of taxane. We report that NOS blockade potentiated response of human MpBC cell lines and tumors to phosphoinositide 3-kinase (PI3K) inhibitor alpelisib and taxane.
View Article and Find Full Text PDFNat Commun
December 2024
Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou Branch, Taoyuan, Taiwan.
Immune checkpoint inhibitors (ICI) represent new anticancer agents and have been used worldwide. However, ICI can potentially induce life-threatening severe cutaneous adverse reaction (SCAR), such as Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), hindering continuous ICI therapy. We examine 6 cohorts including 25 ICI-induced SJS/TEN patients and conduct single-cell RNA sequencing (scRNA-seq) analysis, which shows overexpression of macrophage-derived CXCL10 that recruits CXCR3 cytotoxic T lymphocytes (CTL) in blister cells from ICI-SJS/TEN skin lesions.
View Article and Find Full Text PDFHead Neck
December 2024
Department of Pediatric Hematology & Oncology, Klinik für Kinder- Und Jugendmedizin, Universitätsmedizin Rostock, Rostock, Germany.
Background: Infantile fibrosarcoma (IFS) is a rare pediatric tumor of intermediate malignancy with high local aggressiveness that typically presents in young infants. Its occurrence in the head and neck region is rare. Complete non-mutilating surgical resection is often not possible, requiring multimodal treatment.
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