Journal of pediatric endocrinology & metabolism : JPEM · 2023
Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli-Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Rivera-Hernández Aleida, Madrigal-González Mónica, Mejía-Carmona Luz, Martínez-López Isis, Pérez-Hernández María Guadalupe, Bernal-Manjarrez Joaquín, Luna-Vidal Sergio, Reta-Guerrero Sarahí, Rodríguez-Florido Marco Antonio, Balcázar-Hernández Lourdes
Аннотация
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.
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.