PMC8055247_01
Sanger sequencing results: electropherograms of the affected patient and her parents. (+) indicated the wild type allele. The position of the mutation is indicated by the arrow.
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This molecular analysis revealed a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 (c.42delC) inducing a premature stop codon (Figure 1). Genetic analysis was also performed for the parents and both were found heterozygous for the mutation (Figure 1).
Sagittal T2-weighted MRI without injection showing bilobular ovarian mass (arrow) and ascites (asterisk).
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Magnetic resonance imaging (MRI) confirmed the presence of left ovarian cystic mass of 6*3*3 cm with thin regular wall and enhanced septa after Gadolinium injection (Figure 2).
Serous cystadenoma of the ovary. (A) Thin-walled unilocular cyst that is lined by cubo-cylindrical monostratified epithelium (Low magnification x 10). (B) Monostratified, focally pseudostratified lining with monotonous, cuboidal or columnar, ciliated cells with round or oval nuclei. The epithelium is supported by variable amounts of spindle cell stroma with no cytologic atypia seen (Medium magnification x 20).
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Histopathological examination of the resected ovarian mass revealed serous cystadenoma (Figure 3), orienting the diagnosis towards pseudo-Meigs' syndrome.