Background: Cardiofaciocutaneous syndrome (CFC) is a rare disorder with multiple congenital anomalies including macrocephaly, failure to thrive, and neurocognitive delay. CFC is part "RASopathy" syndromes caused by pathogenic germline variants in and To estimate cancer risk in CFC we conducted a systematic review using case reports and series.
Methods: We reviewed articles and abstracted CFC cases to form a retrospective cohort based on PRISMA guidelines. Genotype-pphenotype (cancer) correlations, standardized incidence ratios (SIR), cumulative incidence and cause-specific hazard rates for cancer and cancer-free in CFC were calculated.
Results: This study includes 198 publications reporting 690 patients. Only 1.6% (11) had cancer, including acute lymphoblastic leukemia (ALL). Six cancer patients harbored pathogenic variants within , and . Cumulative incidence by age 10 was 5% for cancer or cancer-free death. Hazard Ratio (death) was 1-2% until age 3 and declined thereafter. Significant SIRs were found for all sites (SIR=4.96) and ALL (SIR=24.23).
Conclusions: This is the largest investigation of cancer in CFC to date. Cancer risk in the CFC population is elevated but appears limited to earlier childhood. Modest case and cancer numbers could pose limitations to accurately assess cancer risk in CFC and more studies are needed.
Systematic Review Registration: The review was registered using PROSPERO under the identification tag CRD42023405823 ( https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=405823 ).
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451715 | PMC |
| http://dx.doi.org/10.1101/2024.08.09.24311751 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Added prognostic value of sentinel lymph node mapping in endometrial cancer to molecular subgroups.
Gynecol Oncol
January 2025
Department of Obstetrics and Gynecology, Bern University Hospital and University of Bern, Bern, Switzerland.
Objective: Treatment approaches for endometrial cancer became more personalized in the last decade, mainly due to two key advancements - sentinel lymph node (SLN) mapping and molecular classification. However, their prognostic interaction remains relatively unexplored.
Methods: This retrospective cohort study included patients with endometrial cancer, who underwent surgical treatment including SLN mapping at the Bern University Hospital, Switzerland.
Robotic bronchoscopy: Evolution of advanced diagnostic technologies for pulmonary lesions.
Best Pract Res Clin Anaesthesiol
March 2024
1400 Holcombe Blvd, FC 13.2000, Houston, TX, 77030, USA. Electronic address:
Lung cancer is among one of the most commonly diagnosed malignancies and is the leading cause of cancer-related mortality in both men and women globally, with an estimated 1.8 million deaths annually. Moreover, it is also the leading cause of cancer related deaths in the United States (U.
View Article and Find Full Text PDFPrevalence and incidence of HPV-related dysplasia of oropharyngeal, cervical, and anal mucosae in Spanish people living with HIV (PLHIV).
AIDS
January 2025
Internal Medicine Department, Hospital Universitario Virgen de las Nieves, Instituto de Investigación Biosanitario de Granada (IBS-Granada), Spain.
Background: Objectives were to determine the prevalence/incidence of HPV-related dysplasia and clearance/acquisition rates of high-risk HPV (HR-HPV) genotypes in genital mucosa of women-LHIV and oropharyngeal and anal mucosa of PLHIV and to evaluate factors related to HR-HPV infection in oropharyngeal mucosa at 12-months.
Material And Methods: Prospective, longitudinal study with 12-month follow-up, enrolled PLHIV between December 2022 and April 2023. At baseline and 12-months, HIV-related clinical and analytical variables were recorded, oropharyngeal mucosa exudates were taken for polymerase chain reaction (PCR) studies for HPV and other sexually transmitted infections, while anal and female genital samples were self-sampled for HPV detection and genotyping by PCR and thin-layer cytology.
No evidence that breast cancer occurs at higher rates among young Arab women.
East Mediterr Health J
December 2024
Department of Radiology, King Abdulaziz University, Jeddah, Saudi Arabia.
Article Synopsis
- The study investigates breast cancer incidence rates among Arab women compared to women from high- and middle-income countries, focusing on age-specific data.
- Findings reveal that young Arab women have breast cancer rates that are comparable to or lower than those in selected high- and middle-income countries, contradicting the perception of higher risk in this demographic.
- The results suggest that the higher number of cases in Arab countries may be attributed to a younger population structure, emphasizing the need for updated breast cancer screening policies in the region.
COLOFIT: Development and Internal-External Validation of Models Using Age, Sex, Faecal Immunochemical and Blood Tests to Optimise Diagnosis of Colorectal Cancer in Symptomatic Patients.
Aliment Pharmacol Ther
January 2025
Gastrointestinal and Liver Theme, National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre (BRC), Nottingham University Hospitals NHS Trust and the University of Nottingham, School of Medicine, Queen's Medical Centre, Nottingham, UK.
Background: Colorectal cancer (CRC) is the third most common cancer in the United Kingdom and the second largest cause of cancer death.
Aim: To develop and validate a model using available information at the time of faecal immunochemical testing (FIT) in primary care to improve selection of symptomatic patients for CRC investigations.
Methods: We included all adults (≥ 18 years) referred to Nottingham University Hospitals NHS Trust between 2018 and 2022 with symptoms of suspected CRC who had a FIT.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!