Ovarian juvenile granulosa cell tumors with Ollier's disease in children with IDH1 gene somatic mutation.

ABSTRACT:

Objective

The aim of this study was to explore the symptoms, treatment, and pathogenesis of ovarian juvenile granulosa cell tumors with Ollier's disease in children.

Methods

From October 2019 to October 2020, clinical data were retrospectively analyzed for one case of ovarian juvenile granulosa cell tumors with Ollier's disease. Whole-exome sequencing and Sanger sequencing were used to detect gene mutation in ovarian tumor and chondroma tissue. NADP-dependent isocitrate dehydrogenase-1 (IDH1) and S6 ribosomal protein expression levels in cells transfected with wild-type or mutant plasmid were analyzed by Western blot.

Results

The 4-year-old female showed multiple skeletal deformities, bilateral breast development with chromatosis, and vulvar discharge. Sex hormone ass

SUBMITTER: Zhang J 

PROVIDER: S-EPMC10265673 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature