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Thyroid risk higher for patients with DICER1 syndrome
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Patients with DICER1 syndrome face a 16-fold greater risk for thyroid cancer compared with people without the inherited genetic disorder, according to recent study findings.
“The DICER1 syndrome is an autosomal-dominant, pleiotropic, tumor-predisposition disorder arising from pathogenic germline variants in DICER1, which encodes an endoribonuclease integral to processing microRNAs,” Nicholas E. Khan, MSPH, of the clinical genetics branch, division of cancer epidemiology and genetics at the National Cancer Institute in Rockville, Maryland, and colleagues wrote.
According to the researchers, numerous reports have previously linked DICER1 syndrome to thyroid cancer and multinodular goiters.
“In a family-based cohort study, we analyzed the epidemiologic, clinical and genetic data to investigate the risks of thyroid cancer and multinodular goiter in the DICER1 syndrome,” they wrote.
The researchers evaluated data from 145 participants with a DICER1 germline mutation, as well as 135 family controls, from 48 different families. Participants responded to a questionnaire on their medical history, and a subset received a 3-day evaluation at the NIH Cancer Center. Main outcomes were the cumulative incidence of multinodular goiter or thyroidectomy. Khan and colleagues also compared the incidence of thyroid cancer in DICER1 patients with matched data from the Surveillance, Epidemiology and End Results (SEER) registry.
In patients with DICER1 syndrome, incidence of multinodular goiter or thyroidectomy was 17% among men and 75% among women vs. 8% of women in the control group (P < .001) and none of the men in the control group (P = .0096), the researchers reported. During 3,937 person-years of observation, patients with DICER1 syndrome faced a 16-fold greater risk for thyroid cancer compared with rates in the SEER database (95% CI, 4.3-41). DICER1 mutations were apparent in 84% of multinodular goiter nodules and all three thyroid cancers.
“Early-onset, familial or male [multinodular goiter] should prompt consideration of the DICER1 syndrome, especially if there is a family history of other DICER1-associated cancers,” the researchers wrote. “The role of antecedent chemotherapy in the prevalence and pathogenesis of DICER1-associated thyroid cancer remains to be determined, as do other risk factors. We do not recommend prophylactic thyroidectomy for DICER1-carriers. … Our genetic and epidemiologic data suggest a model of thyroid carcinogenesis in which benign thyroid nodules may be considered premalignant lesions in a stepwise evolution toward thyroid cancer.” – by Andy Polhamus
Disclosure: The researchers report no relevant financial disclosures.
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