Ann Pediatr Endocrinol Metab.  2023 Dec;28(Suppl 1):S6-S8. 10.6065/apem.2244206.103.

A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review

• Kim M
• Lee J
• Yoo S
• Song JY
• Yang EJ
• Kim SH
• Cheon CK
• Yoon JY

• KMID: 2549329
• DOI: http://doi.org/10.6065/apem.2244206.103

Figure

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  Fig. 1. Results of whole exome sequencing (WES) and the patient's family tree. H, heterozygous missense mutation; N, normal; +, heterozygous missense mutation; -, no mutation; NA, no analysis. (A) Both the patient and her mother had a heterozygous missense mutation, c.3506C>G (p.S1169*), in exon 21 of the DICER1 gene (black color, square box, and arrow indicate multinodular goiter, DICER1 mutation [c.3506C>G, p.S1169*], and mutated nucleotides, respectively). (B) The arrow indicates the patient.

Reference

References

1. Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, et al. DICER1 and associated conditions: identification of at-risk individuals and recommended surveillance strategies. Clin Cancer Res. 2018; 24:2251–61.

2. Kim J, Field A, Schultz KAP, Hill DA, Stewart DR. The prevalence of DICER1 pathogenic variation in population databases. Int J Cancer. 2017; 141:2030–6.

3. Choong CS, Priest JR, Foulkes WD. Exploring the endocrine manifestations of DICER1 mutations. Trends Mol Med. 2012; 18:503–5.

4. Stewart DR, Best AF, Williams GM, Harney LA, Carr AG, Harris AK, et al. Neoplasm risk among individuals with a pathogenic germline variant in DICER1. J Clin Oncol. 2019; 37:668–76.

5. Moke DJ, Thomas SM, Hiemenz MC, Nael A, Wang K, Shillingford N, et al. Three synchronous malignancies in a patient with DICER1 syndrome. Eur J Cancer. 2018; 93:140–3.

6. Nosé V. DICER1 gene alterations in thyroid diseases. Cancer Cytopathol. 2020; 128:688–9.

7. Oliver-Petit I, Bertozzi AI, Grunenwald S, Gambart M, Pigeon-Kerchiche P, Sadoul JL, et al. Multinodular goitre is a gateway for molecular testing of DICER1 syndrome. Clin Endocrinol. 2019; 91:669–75.

8. Canberk S, Ferreira JC, Pereira L, Batısta R, Vieira AF, Soares P, et al. Analyzing the role of DICER1 germline variations in papillary thyroid carcinoma. Eur Thyroid J. 2021; 9:296–303.

9. Lee YA, Im SW, Jung KC, Chung EJ, Shin CH, Kim JI, et al. Predominant DICER1 pathogenic variants in pediatric follicular thyroid carcinomas. Thyroid. 2020; 30:1120–31.