- Teresa Conte, PhD CPNP
- CNE Hours
Bone marrow failure represents a diverse and rare group of hematologic disorders. Some patients have subtle findings that may go unrecognized for years, while others present with acute, severe cytopenias. As patients with an inherited disorder have increased risk of comorbidities and predisposition to malignancy, acquired aplastic anemia (AA) must be differentiated from inherited bone marrow failure syndromes (IBMFS) in order to provide appropriate treatment and surveillance.
Oncology nurses provide care for patients and families with multiple early-onset cancers. This session will review Li-Fraumeni Syndrome (LFS), a genetic cancer predisposition syndrome. It is recognized as a mutation in the TP53 gene, the most frequently mutated gene in sporadic cancers. LFS is defined as any germline mutation in the TP53 tumor suppressor gene that is passed down in an autosomal dominant pattern.
Are multiple malignancies in one patient just bad luck? Do different malignancies within the same family signal a cancer predisposition syndrome? Understanding of the human genome demonstrates that many cancers are more than just a bad roll of genetic dice. Benign and malignant conditions that are not seemingly related may be the result of one abhorrent gene.