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PALB2 is DNA damage response protein that acts in Homologous recombination Repair (HRR) pathway and promotes recruitment of principal HRR components such as BRCA1, BRCA2 and Rad51. Biallelic PALB2inactivation is associated with the severe form of Fanconi anemia (FA-N), characterised by severe developmental abnormalities and occurrence of embryonal tumours in infancy. Given the rarity of reported patients with biallelic PALB2inactivation, the full extent of phenotypes associated with PALB2mutations is still unknown.

PALB2 protein is one of the principal components of Homologous Recombination Repair (HRR) that facilitates recruitment of other HRR proteins such as BRCA1, BRCA2 and Rad51. Biallelic PALB2inactivation is associated with a severe form of Fanconi Anemia (FA-N), however, biallelic PALB2mutations also occur in patients with a FA-N syndrome variant characterised by a predisposition to B-cell lymphoma development. The association of PALB2 with FA-N and FA-N variant suggests that PALB2 may play a pathogenic role in a wider range of sporadic haematopoietic malignancies. To address this possibility, the mutational status of the PALB2gene was assessed in 30 myelodysplastic syndrome (MDS) samples, 23 acute lymphoblastic leukaemias (ALL), 171 chronic lymphocytic leukaemias (CLL) and 24 paediatric non-Hodgkin lymphomas (NHL) of T- or B-cell origin.