Genetics in medicine : official journal of the American College of Medical Genetics · 2025
A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.
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Bess Jazmyn, Brown Toniya, Bhala Sonia, Faizer Anaqa, Ahmadzada Muzzammil, Livinski Alicia A, Pemov Alex, Kim Jung, Rosenberg Philip S, Ney Gina M, Stewart Douglas R
Аннотация
PURPOSE: We quantified cancer risk in cardiofaciocutaneous syndrome (CFC), a rare RASopathy.
METHODS: From a comprehensive search, we reviewed articles from 5 databases and abstracted CFC cases with a clinical and/or molecular diagnosis to form a retrospective cohort. We collected information on BRAF, KRAS, MAP2K1, and MAP2K2 genetic variants when available. Genotype-phenotype (cancer) correlations, standardized incidence ratios (SIRs) with age stratification, cumulative incidence and cause-specific hazard rates for cancer and cancer-free in CFC were calculated. A sensitivity analysis with molecular diagnoses only was also performed.
RESULTS: This study included 198 publications reporting 690 individuals. Only 1.6% (11) had cancer, including acute lymphoblastic leukemia. Six individuals had cancer and harbored pathogenic variants within BRAF, MAP2K1, and MAP2K2. Cumulative incidence by age 10 was 5% for cancer or cancer-free death. Hazard Ratio (death) was 1% to 2% until age 3 and declined thereafter. Significant SIRs were found for all sites (SIR = 4.96) and acute lymphoblastic leukemia (SIR = 24.23).
CONCLUSION: To our knowledge, this is the largest investigation of cancer in CFC to date. Cancer risk in the CFC population was elevated but appears to be limited to younger than age 3. However, modest case and cancer numbers limit accurate assessments of cancer risk in CFC and more studies are needed.
METHODS: From a comprehensive search, we reviewed articles from 5 databases and abstracted CFC cases with a clinical and/or molecular diagnosis to form a retrospective cohort. We collected information on BRAF, KRAS, MAP2K1, and MAP2K2 genetic variants when available. Genotype-phenotype (cancer) correlations, standardized incidence ratios (SIRs) with age stratification, cumulative incidence and cause-specific hazard rates for cancer and cancer-free in CFC were calculated. A sensitivity analysis with molecular diagnoses only was also performed.
RESULTS: This study included 198 publications reporting 690 individuals. Only 1.6% (11) had cancer, including acute lymphoblastic leukemia. Six individuals had cancer and harbored pathogenic variants within BRAF, MAP2K1, and MAP2K2. Cumulative incidence by age 10 was 5% for cancer or cancer-free death. Hazard Ratio (death) was 1% to 2% until age 3 and declined thereafter. Significant SIRs were found for all sites (SIR = 4.96) and acute lymphoblastic leukemia (SIR = 24.23).
CONCLUSION: To our knowledge, this is the largest investigation of cancer in CFC to date. Cancer risk in the CFC population was elevated but appears to be limited to younger than age 3. However, modest case and cancer numbers limit accurate assessments of cancer risk in CFC and more studies are needed.
Предметные рубрики MeSH
HumansEctodermal DysplasiaFailure to ThriveHeart Defects, CongenitalNeoplasmsFaciesProto-Oncogene Proteins B-rafMaleFemaleIncidenceProto-Oncogene Proteins p21(ras)MAP Kinase Kinase 1MAP Kinase Kinase 2Child, PreschoolChildInfantRisk FactorsAdultGenetic Predisposition to DiseaseGenetic Association StudiesAdolescent