ESPEYB20 1. Thyroid Pediatric Thyroid Cancer (2 abstracts)
1.14. Longitudinal analysis of cancer risk in children and adults with germline PTEN variants
Yehia L , Plitt G , Tushar AM , Joo J , Burke CA , Campbell SC , Heiden K , Jin J , Macaron C , Michener CM , Pederson HJ , Radhakrishnan K , Shin J , Tamburro J , Patil S & Eng C
JAMA Netw Open. 2023 Apr 3;6(4):e239705. doi: 10.1001/jamanetworkopen.2023.9705. PMID: 37093598
Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal multicenter cohort study aimed at defining the lifetime cancer risk of children and adults affected with PTEN germline mutations.
The study on 701 pediatric and adult patients revealed the following important results: 1) The median age at cancer diagnosis was 47 years with breast cancer, thyroid cancer and endometrial cancer being the three most frequent cancers. 2) In children and young adults <29 years, thyroid cancer was by far the most frequent tumor observed, followed by breast cancer, and endometrial cancer. 3) Patients with neurodevelopmental delay associated with PTEN hamartoma tumor syndrome developed any cancer at an earlier age (70% before the age of 29 years) than patients without neurodevelopmental delay.
In conclusion, these results show an elevated lifetime cancer risk for patients with PTEN hamartoma tumor syndrome, and for the first time also for the pediatric age group. Therefore, cancer surveillance should be started at an early age in patients with a known PTEN variant, especially in those with neurodevelopmental delay.
References: 1. Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid Cancer. Francis GL, Waguespack SG, Bauer AJ, Angelos P, Benvenga S, Cerutti JM, Dinauer CA, Hamilton J, Hay ID, Luster M, Parisi MT, Rachmiel M, Thompson GB, Yamashita S; American Thyroid Association Guidelines Task Force. Management guidelines for children with thyroid nodules and differentiated thyroid cancer. Thyroid. 2015 Jul;25(7):716–759. doi: 10.1089/thy.2014.0460. PMID: 25900731. 2. 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma. Lebbink CA, Links TP, Czarniecka A, Dias RP, Elisei R, Izatt L, Krude H, Lorenz K, Luster M, Newbold K, Piccardo A, Sobrinho-Simões M, Takano T, Paul van Trotsenburg AS, Verburg FA, van Santen HM. 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma. Eur Thyroid J. 2022 Nov 29;11(6):e220146. doi: 10.1530/ETJ-22-0146. Print 2022 Dec 1. PMID: 36228315. 3. The Clinical Spectrum of PTEN Mutations. Yehia L, Keel E, Eng C. The clinical spectrum of PTEN mutations. Annu Rev Med. 2020 Jan 27;71:103–116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21. PMID: 31433956.
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ESPE Yearbook of Paediatric Endocrinology
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