PMC10196141_01
(A) growth curve of the female child. At 10 years old growth retardation (-2 SD) was noted (blue arrow) and synthetic growth hormone treatment was started. (B) Localization of identified somatic and germline variants. Germline heterozygous T deletion (c.1716del, p.(Phe572LeufsTer15)) and somatic heterozygous substitution c.5113G > A, p.(Glu1705Lys) were detected by next generation sequencing (Illumina, custom metabolic disorders panel) in exon 10 and 27 respectively of the DICER1 gene (LRG_492, NM_177438.3; Sequencing depth was 874 x  and 756 x  respectively (Integrative Genomic Viewer Software). The germline variant was confirmed by Sanger sequencing (blue arrow). (C) Histologic and immunohistochemical examination of cervical tissue samples. Edematous congestive polyp fragments, hematoxylin and eosin (HE) staining, original magnificationx25 (left panel); Surface squamous (*) or mucinous (**) epithelium without atypia, the underlaying proliferative cells are monotonous without atypia or mitosis, HEx100 (middle panel); Myogenin staining showing no myogenin expression,x200 (right panel). (D) Family pedigree. Individuals screened for DICER1 germline variant are indicated by a black border. Clinical phenotypes are represented by black filling for ERMS, blue for thyroid disease and white for asymptomatic. The proband is marked with an arrow. "+" and "-" indicate the mutation status. Question marks correspond to symptomatic patients whose DICER1 mutational status is unknown.
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F1
A history of benign thyroid nodules in the father's mother and sister was also reported (Figure 1D).