Fanconi's Anemia

Where's your DNA?  It's in your genes!

A great summary statement today: A young woman with a history of varying cytopenias and HPV-related squamous cell carcinoma of the cervix despite being vaccinated, who developed acute bone marrow failure following a small dose of cisplatin, found to have Fanconi's Anemia via genetic testing.

- The gene mutated in Fanconi's syndrome is responsible for genomic stability via repair of DNA crosslinking; Cisplatin causes DNA crosslinking damage!

-As studied by Khan et al 2016, in Fanconi's Anemia preemptive bone marrow transplant (in efforts to eliminate the risk of bone marrow failure and AML) at young ages increased event-free survival, where as preemptive BMT in adulthood decreased event-free survival because of the competing risk of solid tumors.