A family with Sertoli–Leydig cell tumour, multinodular goiter, and DICER1 mutation

[摘要] Background DICER1syndrome is an autosomal dominant tumour predisposition syndrome associated with a wide variety of cancerous and noncancerous conditions, including ovarian sex cord–stromal tumours and thyroid conditions, including multinodular goiter. The most common ovarian sex cord–stromal tumour associated withDICER1syndrome is Sertoli–Leydig cell tumour, with germlineDICER1mutations present in more than 50% of cases. We present a case in which a patient in her late 30s was diagnosed with a Sertoli–Leydig cell tumour in the background of a strong family history of multinodular goiter and Sertoli–Leydig cell tumour with a germline mutation inDICER1.Case PresentationA 38-year-old woman with history of multinodular goiter was found to have stage iiic ovarian Sertoli–Leydig cell cancer after presenting with abdominal pain. She underwent multiple surgeries and chemotherapy. The patient developed rapid disease progression and died 7 months after diagnosis. Seven years earlier, a daughter had experienced the same disease and was found to have a germlineDICER1mutation. The mother had not undergone testing before her own diagnosis. SummaryThe co-occurrence of Sertoli–Leydig cell tumour and multinodular goiter is highly suggestive ofDICER1syndrome. The recognition ofDICER1syndrome within a family is essential for increased awareness and potential early recognition of complications. Most conditions associated withDICER1syndrome occur in childhood, and most of the current screening recommendations are specific for childhood and young adulthood. Cancer risks and findings for the adult population are not as well defined. Clinicians who encounterDICER1syndrome should review recommendations for genetic testing and surveillance and enrol patients in theDICER1registry.

[学科分类] 肿瘤学

[关键词] DICER1;microrna;sex cord–stromal tumour;Sertoli–Leydig;multinodular goiter;genetic mutation