Somatic DICER1 Mutations in a Pubertal Girl with Cervical Embryonal Rhabdomyosarcoma and Papillary Thyroid Adenoma.

BACKGROUND

DICER1 syndrome is an inherited tumor predisposition syndrome. A germline mutation in DICER1 increases the risk for a spectrum of rare tumors. We describe a case of somatic DICER1 mutation in a pubertal girl, who is affected by different tumors of the DICER1 syndrome, including embryonal rhabdomyosarcoma (ERMS) of the cervix and thyroid adenoma.

CASE: A 16-year-old girl with history of papillary thyroid adenoma presented with abnormal vaginal bleeding and an exophytic cervical mass on examination. Histopathologic examination confirmed cervical ERMS. By using Sanger sequencing of the tumor, we identified 1 DICER1 mutation (c.3937delG).

SUMMARY AND

CONCLUSION

This report suggests that a patient with these 2 unrelated tumors (ERMS and papillary thyroid adenoma) should be promptly tested for DICER1 gene mutations.