Ultrasound-Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview.

Autor:	Januś D; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, 31-008 Krakow, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital in Krakow, 30-663 Krakow, Poland., Kujdowicz M; Department of Pathomorphology, Jagiellonian University Medical College, 31-008 Krakow, Poland.; Department of Pathology, University Children's Hospital in Krakow, 30-663 Krakow, Poland., Kaleta K; Student Scientific Group of Pediatric Endocrinology, Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, 31-008 Krakow, Poland., Możdżeń K; Student Scientific Group of Pediatric Endocrinology, Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, 31-008 Krakow, Poland., Radliński J; Student Scientific Group of Pediatric Endocrinology, Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, 31-008 Krakow, Poland., Taczanowska-Niemczuk A; Department of Pediatric Surgery, Jagiellonian University Medical College, 31-008 Krakow, Poland.; Department of Pediatric Surgery, University Children's Hospital in Krakow, 30-663 Krakow, Poland., Kiszka-Wiłkojć A; Department of Pediatric Surgery, Jagiellonian University Medical College, 31-008 Krakow, Poland.; Department of Pediatric Surgery, University Children's Hospital in Krakow, 30-663 Krakow, Poland., Maślanka M; Department of Pediatric Surgery, Jagiellonian University Medical College, 31-008 Krakow, Poland.; Department of Pediatric Surgery, University Children's Hospital in Krakow, 30-663 Krakow, Poland., Górecki W; Department of Pediatric Surgery, Jagiellonian University Medical College, 31-008 Krakow, Poland.; Department of Pediatric Surgery, University Children's Hospital in Krakow, 30-663 Krakow, Poland., Starzyk JB; Department of Pediatric and Adolescent Endocrinology, Jagiellonian University Medical College, 31-008 Krakow, Poland.; Department of Pediatric and Adolescent Endocrinology, University Children's Hospital in Krakow, 30-663 Krakow, Poland.
Jazyk:	angličtina
Zdroj:	Children (Basel, Switzerland) [Children (Basel)] 2024 Mar 28; Vol. 11 (4). Date of Electronic Publication: 2024 Mar 28.
DOI:	10.3390/children11040403
Abstrakt:	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.
Databáze:	MEDLINE
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