Figure 7.

Fanconi anemia and DC/TBD share a common spectrum of cancer. SCCs may be found in gums, tongue, palate, or any other mucosal surface in the mouth; SCCs can also be found elsewhere in the gastrointestinal tract particularly in the anus and for patients with FA in the esophagus. The hematologic cancer phenotype consisting of myelodysplastic syndrome and acute myeloid leukemia is shared by both disorders. In patients with DC/TBD, non-Hodgkin lymphoma is added to the oncological spectrum. Gynecologic SCC is a distinctive feature of FA. Also, a subgroup of patients with FA with FANCD1/BRCA2 and FANCN/PALB2 genotypes have been associated with the development of embryonal tumors (Wilms tumor, neuroblastoma, and brain tumors [most often medulloblastomas]) and acute myeloid leukemia at an early age. Features exclusive to FA are in green, those exclusive to DC/TBD are in red, and those shared by both disorders are in black. DC/TBD, dyskeratosis congenita/telomere biology disorders; FA, Fanconi anemia; SCCs, squamous cell carcinomas.