ESPE Abstracts (2019) 92 P1-244

Two Different Endocrine Cancer, One Disease; DICER-1 Mutation

Zeynep Uzan Tatli1, Gül Direk1, Alper Özcan2, Nihal Hatipoglu1, Mustafa Kendirci1, Selim Kurtoglu3


1Erciyes University of Medicine, Department of Pediatric Endocrinology Department, Kayseri, Turkey. 2Erciyes University of Medicine, Department of Pediatric Hematology and Oncology, Kayseri, Turkey. 3memorial hospital, Department of Pediatric Endocrinology and Neonatology, Kayseri, Turkey


Autosomal dominant DICER1 mutations are among the causes of early-onset familial cancer. DICER1 mutation has been shown in pleuropulmonary blastomas as well as ovarian tumors, thyroid, parathyroid, pituitary, adrenocortical and testicular tumors. It is important to be aware of the risk for the development of other cancers in the follow-up of these cases.

Cases: Case-1: Previously known to be healthy 8,5-year-old girl presented with complaints of deepening voice and hirsutism. On physical examination, she was significantly above the familial target height percentile. Thelarche was consistent with Tanner stage 1, while pubic hair was stage 5. The size of the clitoris was markedly increased by 3x1cm. Increased muscle mass was remarkable. In Laboratory evaluation, total testosterone ( 231.6 ng/dl ) was found significantly high. The ultrasonographic evaluation revealed a mass of 43 mm in the left adrenal area. The patient was operated and pathological evaluation was consistent with adrenocortical carcinoma. When the family history was detailed, it was learned that the parents were 1st-degree cousins and her aunt was treated for thyroid cancer. Genetic analysis revealed DICER1 mutation. During the follow-up visits, a simple ovarian cyst with the diameter of 3cm was detected. Lactate dehydrogenase, alpha-fetoprotein, beta-human chorionic gonadotropin levels were all normal. After 2 months the ovarian cyst disappeared spontaneously.

Case-2: A 6.5-year-old girl was admitted to the emergency service with abdominal pain. A mass was palpated in the abdomen and other system examinations were normal. Pubertal development was consistent with Tanner stage 1. Lactate dehydrogenase and CA-125 levels were elevated. Ultrasonographic imaging revealed a mass lesion of 15 cm in diameter with right adnexal origin. The patient had been operated. Pathological evaluation of the mass was consistent with Sertoli-Leydig cell tumor. During follow-up, a solid nodule (8 mm in long axis) in the left lobe of the thyroid gland was detected incidentally. Fine needle aspiration biopsy revealed a benign lesion but because of coexisting of these two clinical conditions genetic analysis was performed. A germline mutation was detected in the DICER1 gene. Follow-up of both patients continues.

Conclusion: As seen in our cases, DICER mutation should be considered in the presence of multiple organ involvement in endocrine cancers and other endocrine organ pathologies should be kept in mind during the follow-up period.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts