case_images: PMC8349212_01
case_images: (A) Germline DICER1 mutation (c.1088_1089delCTinsAA p.F363X) of the patient was confirmed by Sanger sequencing. (B) Germline DICER1 mutation (c.1088_1089delCTinsAA p.F363X) of the patient's mother was confirmed by Sanger sequencing. (C) Somatic DICER1 missense mutation in the exon 25 (c.5428G>T p.D1810Y) of Ovarian tissue. (D) Somatic DICER1 missense mutation in exon 24 (c.5126A>G p.D1709G) of thyroid tissue.
case_images: PGPM-14-947-g0003.jpg
case_images: PMC8349212_01_PGPM-14-947-g0003.jpg
case_images: f0003
case_images: Sanger sequencing (Figure 3A). Sequencing revealed that her DICER1 mutation was inherited from her mother (Figure 3B). DICER1 missense mutation in the exon 25 (c.5428G>T p. D1810Y) with the variant allele frequency of 50% (Figure 3C), and thyroid tissue revealed somatic mutations in DICER1 missense mutation in exon 24 (c.5126A>G p.D1709G) with the variant allele frequency of 24% (Figure 3D).