Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience.

Background To describe the complications and long-term results in patients with multiple endocrine neoplasia type 2A (MEN 2A) syndrome in whom a prophylactic thyroidectomy was performed, in relation to the recommendations of the American Thyroid Association (ATA). Methods A retrospective study of 14 patients with MEN 2A thyroidectomized between 2000 and 2017. We reviewed demographic, clinical, analytical and radiological data. Postoperative complications and long-term follow-up were analyzed. Results We treated eight boys and six girls with a median age of 5 years old (range 2-10). The predominant genetic mutation belonged to codon 634 (8/14, 57.14%). Total thyroidectomy (TT) without cervical lymphadenectomy was performed in all patients. A right upper parathyroidectomy was performed in one patient due to intraoperative suspicion of increased volume. Histological study revealed no alterations. Two patients presented transient hypocalcemia postoperatively and no patient had permanent hypocalcemia or nerve damage. Pathological anatomy confirmed medullary thyroid microcarcinoma in 5/14 patients: all carrying codon 634 mutation and three of them with preoperative basal calcitonin levels <20 pg/mL. No recurrences or metastases have been detected after a mean follow-up of 8 years. A patient with codon 634 mutation developed a unilateral pheochromocytoma at 25 years of age. No patient has presented hyperparathyroidism. Conclusions Prophylactic thyroidectomy without cervical lymphadenectomy is an effective and safe preventive treatment in patients with MEN 2A syndrome when it is performed by experienced surgeons in reference centers.

Outcome of teenagers and young adults with ependymoma: the Royal Marsden experience.

BACKGROUND: The outcome and clinical characteristics of teenagers and young adults (TYA) with ependymoma have not been well documented. We report the Royal Marsden Hospital experience treating TYA with ependymoma. MATERIALS AND METHODS: Sixteen TYA were treated for ependymoma from 1971 to 2004 and are compared to 24 children (not infants) treated in the same period. RESULTS: Twelve TYA (75%) received treatment in a neuro-oncology unit. Average time from symptoms to diagnosis was 183 days for TYA vs. 61.2 for children (p = 0.005). Two TYA (12.5% vs. 41.6% for children, p = 0.08) were enrolled in a clinical trial. Only 25% of TYA achieved gross total resection, all of them received radiotherapy and five of them received chemotherapy. There were five relapses; all of them were local. Five-year overall survival was 84.6% +/- 10 for TYA vs. 78.1% +/- 8.7 for children (p = 0.15), and 5-year progression-free survival was 66.6% +/- 12.3 for TYA vs. 44.4% +/- 10.3 for children (p = 0.08). Up to 56% of patients treated in the paediatric unit received psychosocial support vs. 42.9% of patients treated in the adult unit. DISCUSSION: Ependymoma in adolescents and young adults is an infrequent entity, with perhaps better outcome compared to children. The extent of surgical resection as seen in children is an important prognostic factor. Providing adolescents with ependymoma the appropriate neuro-oncologic care, including access to multidisciplinary teams, full access to clinical trials and age-appropriate neuro-oncologic ancillary support services, remains a challenge.