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. IFS frequently harbors neurotrophic receptor tyrosine kinase (NTRK) fusions. Targeted therapy with NTRK inhibitors is modifying treatment paradigms of IFS.
Methods: Herein, we report the case of a neonate with a giant unresectable congenital ETV6::NTRK3 (+) IFS of the head and neck region without rapid response to chemotherapy who was treated with larotrectinib oral suspension.
Results: Larotrectinib was well tolerated and induced an impressive clinical and radiologic response.
Conclusions: This case illustrates an example of pediatric precision oncology in a neonate with an ETV6::NTRK3 (+) congenital IFS of the head and neck region and provides further reference for the use of larotrectinib in the neonatal period.
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http://dx.doi.org/10.1002/hed.28058 | DOI Listing |
Dig Dis Sci
January 2025
Department of Otorhinolaryngology, Qilu Hospital of Shandong University, Jinan, Shandong, China.
Objectives: As one of the most common complications of laryngopharyngeal reflux or gastroesophageal reflux disease, dental erosion presents a significant association with laryngopharyngeal reflux. This study aimed to elucidate the role of laryngopharyngeal reflux and gastroesophageal reflux disease on the severity and occurrence of dental erosion in adult populations.
Methods: A comprehensive search was performed in the databases of PubMed/MEDLINE, Web of Science, Cochrane Library, and Scopus for English literature published from July 1999 to June 2024.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Anal Chem
January 2025
State Key Laboratory of Supramolecular Structure and Materials, College of Chemistry, Jilin University, Changchun 130012, China.
As the most common and lethal cancer of the female gonads, ovarian cancer (OC) has a grave impact on people's health. OC is asymptomatic, insidious in onset, difficult to diagnose and treat, fast-growing, and easy to metastasize and has poor prognosis and high mortality. How to detect OC as early as possible and treat it without side effects has become a challenging medical problem.
View Article and Find Full Text PDFLaryngoscope
January 2025
Department of Otorhinolaryngology-Head & Neck Surgery, Faculty of Medicine, Suez University, Suez, Egypt.
We present a simple and innovative sialendoscopy basket stone retrieval (BSR) simulator model composed mainly of a 1.0-mL insulin syringe with detachable needle whose lumen mimics a dilated salivary duct. Dried Guava seeds are used to imitate small-sized floating sialoliths.
View Article and Find Full Text PDFJ Appl Toxicol
January 2025
Department of Biosciences, Institute of Health and Society, Federal University of São Paulo, UNIFESP, Santos, São Paulo, Brazil.
The present systematic review aims to put together human population studies that include some relationship between genetic polymorphisms and genotoxicity as well as to evaluate the quality of the published studies induced by cigarette smoke exposure in vivo. The present systematic review was built according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria. Different genotoxicity assays were used by different authors, although the major goal was the genotoxicity assessment by means of micronucleus, comet, sister chromatid exchange, and chromosomal aberration assays.
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