Novel pathogenic variant of <i>DICER1</i> in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation-Reference-Cited by-同舟云学术

Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation

Published:2023-06-13 Issue:8 Volume:36 Page:782-785
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Rivera-Hernández Aleida¹,Madrigal-González Mónica¹,Mejía-Carmona Luz¹²,Martínez-López Isis¹³,Pérez-Hernández María Guadalupe¹⁴,Bernal-Manjarrez Joaquín¹⁵,Luna-Vidal Sergio¹⁶,Reta-Guerrero Sarahí¹⁷,Rodríguez-Florido Marco Antonio⁸,Balcázar-Hernández Lourdes⁹^ORCID

Affiliation:

1. Pediatric Endocrinology Department, Hospital de Pediatría , UMAE CMN Siglo XXI , Mexico City , Mexico

2. Pediatric Department , Hospital General de Zona No. 32 , Querétaro , Mexico

3. Pediatric Department , Hospital General Regional No. 2 , Querétaro , Mexico

4. Pediatric Department , Hospital General de Subzona y Medicina Familiar No. 4 , Tecomán Colima , Mexico

5. Pediatric Department , Hospital de Ginecopediatria , Hermosillo , Sonora , Mexico

6. Pediatric Department , Hospital General de Zona No. 197 , Texcoco Estado de México , Mexico

7. Pediatric Endocrinology Department , Hospital Municipal del Niño. Hospital Materno-Infantil SSA , Durango , Mexico

8. Pathology Department, Hospital de Pediatría , UMAE CMN Siglo XXI , Mexico City , Mexico

9. Master of Science, Endocrinology Department, Hospital de Especialidades , UMAE CMN Siglo XXI , IMSS, Avenida Cuauhtémoc N. 330 Colonia Doctores. C.P. 06720 , Mexico City , Mexico

Abstract

Abstract Objectives To present a case of a new pathogenic variant of DICER1. Case presentation 13-year-old female with non-toxic multinodular goiter and ovarian Sertoli–Leydig cell tumor, in whom a pineal parenchymal tumor of intermediate differentiation was diagnosed. Next-generation sequencing revealed a new germline mutation in the DICER1 gene (exon 16, c2488del [pGlu830Serfs*2] in heterozygosis), establishing the diagnosis of DICER1 syndrome. Conclusions Mutations in the DICER1 gene cause genetic predisposition to a wide spectrum of benign or malignant tumors from childhood to adulthood.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2023-0149/pdf

Reference8 articles.

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