Which cancer is most frequently associated with DICER1 syndrome?

DICER1 syndrome is a genetic condition caused by mutations in the DICER1 gene, which is involved in the regulation of microRNAs. This syndrome is associated with an increased risk of several types of tumors, most notably including pleuropulmonary blastoma (PPB), a rare pediatric lung tumor, and various other neoplasms.

Thyroid cancer is the most frequently associated malignancy with DICER1 syndrome, particularly differentiated thyroid cancer such as follicular or papillary thyroid carcinoma. Individuals with DICER1 mutations have a notable predisposition to developing thyroid tumors, which makes it a significant aspect of the syndrome's clinical manifestation.

Understanding the connection between DICER1 syndrome and thyroid cancer is important for genetic counseling and the management of affected individuals, as early detection and surveillance can greatly influence outcomes. Other cancer types linked to DICER1, such as those affecting the pancreas, skin, or adrenal glands, are not as commonly associated with this syndrome.