Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New Zealand

Fanconi anaemia (FA) is a rare genetic condition which predisposes to progressive bone marrow failure, a specific spectrum of malignancies including head and neck squamous cell carcinoma (HNSCC), 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 the first 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. Further, our analysis demonstrates that the physical and genetic profiles of FA patients in Australia and New Zealand resemble those observed in other international cohort studies. This study emphasises the continued significance of cytogenetic testing for FA while stressing the need for heightened awareness among medical professionals. FA, once perceived primarily as a paediatric condition, now demands vigilance across all age groups due to 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 HNSCC, consistent with observations in other regions worldwide.