Fanconi anemia (FA) is a heterogeneous genetic disease characterized by genomic instability with high rates of congenital anomalies, bone marrow failure (BMF) and predisposition to hematological malignancies and solid tumors. 1The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair mechanisms caused by mutations in one of the 22 FANC family genes currently identified. 2 BMF represents the main cause of morbidity and mortality in FA patients and hematopoietic stem cell transplantation (HSCT) is the only curative treatment for FA-related hematological involvement, with a survival rate greater than 80% at 5 years. 3,4,5 Patients with FA are prone to liver disease, particularly in terms of elevated liver function tests, as well as benign and malignant liver

About 10% of children with cancer carry a pathogenic mutation in genes predisposing to tumourigenesis. These mutations are being identified more and more frequently thanks to the use of next-generation sequencing techniques in the diagnostic work-up of cancer, and their integration into clinical practice is a new challenge for oncogenetics. The diagnosis of a cancer predisposing syndrome (CPS) has important implications for the management of the patient, as well as for the patient’s family, who may also include potential carriers of the identified predisposing mutation. Clinical criteria have been developed to help clinicians suspect a predisposing condition: attention should be given to the family and patient’s medical history, to specific clinical signs and to specific histopathological tumour subtype. A multidisciplinary team with specific training is essential for the complex clinical management of these conditions.

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