Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand

• Published in: Genetics in Medicine Open p. 103447
• Main Authors: Fluhler, Hannah, Granger, Elissah, Sharp, Michael, Harris, Caitlin, Mckinley, Mark, Riyat, Sarbjit, Krieg, Christine, Deans, Andrew, Fraser, Chris, Cross, Siobhan, Carter, Tina, Worgan, Lisa, Nelson, Adam, Fox, Lucy C., Nicholl, Jillian, Attwood, Alison, McLeman, Lorna, Hughes, David, Conyers, Rachel, Kujan, Omar, Velleuer-Carlberg, Eunike, Nandini, Adayapalam, Crismani, Wayne
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.08.2025
• Subjects: Chromosome breakage; chromosome breakage test; chromosome fragility test; DNA repair; Fanconi anaemia; Fanconi anemia; Genetic testing; Genetics; Genomic instability; Genetic testing; Chromosome breakage; Fanconi anemia; DNA repair; Genomic instability; chromosome fragility test; Fanconi anaemia; chromosome breakage test
• ISSN: 2949-7744; 2949-7744
• DOI: 10.1016/j.gimo.2025.103447

Fanconi anemia (FA) is a rare genetic condition that predisposes to progressive bone marrow failure, a specific spectrum of malignancies, including head and neck squamous cell carcinoma, and an array of other clinical manifestations. The clinical and genetic spectrum of FA in Australia and New Zealand remains relatively undescribed in the literature and is limited to case reports. In this study, we conducted a comprehensive investigation of FA within this region combining cohort data and case reports, aiming to elucidate its diagnostic patterns, clinical manifestations, and genetic characteristics. Our findings reveal a positive correlation between national testing rates and case detection, across states and territories of Australia, suggesting that targeted testing strategies may enhance the identification of FA cases. Furthermore, our analysis demonstrates that the physical and genetic profiles of people with FA in Australia and New Zealand resemble those observed in other international cohort studies but also exhibit nuanced differences. This study emphasizes the continued significance of cytogenetic testing for FA while stressing the need for heightened awareness among medical professionals. FA, once perceived primarily as a pediatric condition, now demands vigilance across all age groups because of advances in medical care and complementary detection methods, such as high-throughput sequencing. This study also underscores the heightened susceptibility of individuals with FA in Australia and New Zealand to head and neck squamous cell carcinoma, consistent with observations in other regions worldwide.