ECEESPE2025 Poster Presentations Endocrine Related Cancer (76 abstracts)
Pediatric papillary thyroid carcinoma as the first manifestation of undiagnosed hereditary tumor predisposition syndrome?
Noelia Dujovne 1 , Natalia Gazek 2 , Elisa Vaiani 2 , Pablo Ramirez 2 , Natalia Perez Garrido 2 , Jessica Lopez Marti 2 , María Victoria Pringles Granel 2 , Victor Ayarzabal 2 , Mariana Lavia 2 , Marta Ciaccio 2 , Alicia Belgorosky 2 , Roxana Marino 2 & Viviana Herzovich 2
1Hospital of Pediatrics S. A. M. I. C. Prof. Dr. Juan P. Garrahan, Endocrinology, Buenos Aires, Argentina; 2Hospital d Pediatria J. P. Garrahan, Ciudad Autonoma de Buenos Aires, Argentina
JOINT444
Background: In children, papillary thyroid cancer (PTC) is generally sporadic and, rarely, part of an unrecognized hereditary tumor predisposition syndrome (HTPS). The aim of our study was to report cases of PTC as the first manifestation of HTPS and to characterize the histologic variant, age at diagnosis, recurrence risk according to the American Thyroid Association (ATA 2015), and response to treatment.
Material and Methods: A retrospective, descriptive study was conducted in 88 pediatric patients who underwent total thyroidectomy for PTC. Seven patients with HTPS were identified. The diagnosis was made as follows: 5/63 by next generation sequencing (NGS) panel with PTC-related genes and fusions while in 2/25 patients the molecular study was requested based on clinical suspicion. Patients who were found to have HTPS before PTC diagnosis were excluded. The patients were classified according to the histological criteria, ATA recurrence risk, and dynamic risk stratification at final follow-up.
Results: Seven patients with HTPS in whom the first manifestation was PTC were identified. Three had DICER1 syndrome, two Lynch syndrome, and two PTEN syndrome. Of two patients diagnosed based on clinical suspicion, one had a history of cystic adenomatous malformation in the lung and the other had macrocephaly and developmental delay. DICER1 and PTEN syndrome were confirmed, respectively. Three patients with DICER1 syndrome had follicular variant of PTC: a 6-year-old girl with ATA high risk, and a 14-year-old girl and a 15-year-old boy with ATA low risk. Lynch syndrome (MSH6 mutation) was diagnosed in two sisters whose mother had a history of thyroid cancer. The index case was a 12-year-old girl with a follicular variant of PTC with ATA low risk. A thyroid ultrasound was requested for the 16-year-old sister due to family history, and PTC of the classic variant with ATA intermediate risk was diagnosed. Two unrelated girls with PTEN Syndrome, aged 12 and 15 years, had a classic variant of PTC with ATA low risk. All patients had excellent response to treatment at the final follow-up (+/- 2 years).
Conclusions: The NGS panel enabled the identification of HTPS in children in whom PTC was the only or initial manifestation of the syndrome. In addition, a comprehensive medical history along with a thorough physical examination is essential to suspect the presence of HTPS in a patient presenting with PTC. Our study patients with PTC associated with HTPS primarily had ATA low-risk and responded well to treatment.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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