RESUMEN
BACKGROUND: DICER1, a cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients. Case report 1: A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring at 13.5 years. Over the past 2.5 years, she had developed pronounced androgenic symptoms, including a deepened male voice; facial, back, and neckline acne; hirsutism; and menstrual irregularities leading to secondary amenorrhea. A thyroid ultrasound identified a multinodular goiter (MNG) with cystic-solid lesions containing calcifications. An abdominal ultrasound identified a 5.7 × 6.9 cm solid mass in the right adnexal region, displacing the uterus to the left. Histopathological examination confirmed a Sertoli-Leydig cell tumor. The patient was subjected to a total thyroidectomy. Histopathology revealed benign follicular cell-derived neoplasms. Thyroid follicular nodular disease (TFND) was diagnosed bilaterally. DNA analysis using NGS, confirmed via the Sanger method, revealed a pathogenic heterozygotic variant c.2953C>T [p.Gln985*] in exon 18 of the DICER1 gene. Case report 2: A 12-year-old male patient was admitted to the pediatric surgery unit due to a 33 mL goiter. A month prior to his admission, the patient discovered a palpable nodule in his neck, accompanied by hoarseness. An ultrasound revealed MNG. Molecular analysis revealed a pathogenic heterozygotic variant c.2782C>T [p.Gln928*] in exon 17 of the DICER1 gene. Subsequently, a total thyroidectomy was performed, and histopathological examination revealed TFND bilaterally. CONCLUSIONS: Recent advances in genetic evaluation and in histological approaches indicate that MNG/TFND, although rare in the pediatric population, when accompanied by characteristic ultrasound and histopathological features, and by additional features such as androgenization, may warrant assessment also of the DICER1 gene within CPS molecular panel screening.
RESUMEN
INTRODUCTION: Despite its benign nature, possible bilateral presentation, and a very good prognosis, ovarian sparing tumorectomy (OST) in mature ovarian teratoma (MOT) is not commonly performed. Unilateral oophorectomy has physiological consequences, while bilateral is devastating. The aim of this study is promotion of OST in MOT among children. MATERIALS AND METHODS: We reviewed 120 patients operated for MOT between August 1999 and 2019. RESULTS: Ovariectomy was performed in 15 patients (14 between 1999 and 2009 and 1 after 2010). In 105 girls, OST was possible including 32 with ovarian torsion. The approach was laparoscopy in 30 girls (11 conversions) and laparotomy in 94. Intra-abdominal spillage occurred in 30% of laparoscopic dissections. Postoperative morbidity was not associated with surgical approach (p = 0.613) or presence of adnexal torsion (p = 0,608). Follow-up was from 4 months to 9 years (median = 4 years) with access to 90% of patients. Bilateral lesions were observed in six (synchronous in five and metachronous in one) patients. Recurrence appeared in three patients operated via laparotomy and OST (after 12, 46, and 74 months). In one girl, asynchronous contralateral MOT was found 5 years after unilateral oophorectomy. Ovarian regeneration after torsion was observed in sonography in 84.4% of the patients. None of the patients experienced chemical peritonitis or malignant tumor transformation. CONCLUSION: OST is safe and effective and should be the first-line procedure in children. Laparoscopy and laparotomy constitute a complementary approach to MOT. Ultrasound follow-up is necessary to monitor recurrence, contralateral disease, and ovarian regeneration.