Rolling the DICER1 (201-2)

11:15 – 11:45 am Wednesday, September 2

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.

Asking the question “are these conditions linked” may be the first step to identifying patients and families at risk for a cancer predisposition syndrome. DICER1 syndrome is a cancer predisposition syndrome associated with benign and malignant conditions. The primary tumor in DICER1 syndrome, pleuropulmonary blastoma (PPB), was recognized in 1988. The association with increased risk of other neoplasms was noted in 1996. The presence of DICER1 gene mutations was confirmed in 2009. DICER1 is a rare cancer syndrome and may not be readily recognized by providers. Awareness of DICER1 and recommendations for genetic testing are based upon multiple factors including age at diagnosis and disease type. PPB is pathognomonic for DICER1, but absence of PPB in the presence of other features associated with DICER1 or a family history of DICER1-related disorders does not preclude screening patient for DICER1 mutations. Advanced practice providers should be aware of the DICER1 association with PPB, as well as other benign and malignant conditions. A thorough family history may reveal medical conditions linked to DICER1 conditions. Evaluation for DICER1 mutations includes referral for genetic counseling. Ongoing disease management and surveillance is coordinated with the primary oncology team, genetic counselor, and cancer predisposition clinic. This session will discuss assessment of patients who present with conditions suggestive of a DICER1 and when to refer to the cancer predisposition clinic. Surveillance recommendations will be reviewed. The ethical considerations regarding diagnosing a minor patient and their family members will also be addressed.

Shelly McQuaid, MS CGC
Barbara Lockart, DNP APRN AC/PC CPHON®
CNE Hours: