ESPE Abstracts

The new techniques of molecular genetics are revolutionizing our clinical practice. This causes benefits in the diagnosis and prediction of diseases in patients, but also raises new ethical concerns that must be addressed. One of them is the susceptibility to cancer due to genetic risk. Children can be especially vulnerable in this area, as they do not freely decide the way forward. Regarding thyroid cancer, it is important to know which genetic syndromes are susceptible to cancer, how likely they are to develop it, and how to monitor these patients.

Objetives: To study patients < 15 years old with syndromes of genetic susceptibility to thyroid cancer (GSSTC) and their clinical-epidemiological characteristics.

Material and méthods: Review of patients coded in clinical history as GSSTC. Statistical analysis of data using SPSS program.

Results: 18 cases of GSSTC have been diagnosed: 10 MEN2A, 1 MEN2, 2 DICER1, 2 familial adenomatous polyposis, 1 PTEN, 1 Cowden and 1 ataxia-telangiectasia. The patients have an age between 1-15 years old (median 12 years); 50%M/50%F. 11 of 18 patients had thyroid cancer of genetic origin. 8 had MEN2A, 1 MEN2B and 2 DICER1. In 8 patients, a family history of predisposition to cancer was known (7 MEN2A and 1 DICER1). They consulted: 7 by family history (all of them MEN2A), 3 by goiter (1 MEN2A, 1 MEN2B and 1 DICER1) and 1 by thyroid nodule (DICER1). 5 presented ultrasound abnormalities suspected of malignancy. Ultrasound-guided FNA was performed in 3 of the patients, with a Bethesda result of 1 in one patient and 2 in two patients despite being affected by cancer. Thyroidectomy was performed on these 11 patients. In 7 MEN2A, prophylactic thyroidectomy was performed due to high risk (requiring one radioactive iodine later). In 4 patients, therapeutic thyroidectomy was performed: 1 MEN2B with suspected ultrasound that also required radioactive iodine and tyrosine kinase inhibitors; 1 MEN2A and 2 DICER1 with suspicious ultrasound. 7 of 18 patients have not developed cancer so far; 3 have been evaluated (2 MEN2A with prophylactic thyroidectomy due to high risk and 1 Cowden who has presented thyroid nodules with FNA with Bethesda 2) and 4 are pending first evaluation in endocrine (1 ataxia-telangiectasia, 2 familial adenomatous polyposis and 1 PTEN).

Conclusions: The follow-up of patients with medium-high genetic susceptibility should be close, Further studies are needed in this population to better understand their clinical evolution