Evidence map›Paper›PMID 37324278›Full record

ArticleFrontiers in endocrinology2023

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

Jin Zhang, Renwu Hua, Lishuang Ma, Chao Liu, Yanxia Zhang, Xuemin Lü, Tianren Wang, Naijun Wan

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.6field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 2 countries.

Jin ZhangDepartment of Pediatrics, Beijing Jishuitan Hospital, Beijing, China.
Renwu HuaShenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen, Shenzhen, China.
Lishuang MaDepartment of General Surgery, Capital Institute of Pediatrics, Beijing, China.
Chao LiuDepartment of General Surgery, Capital Institute of Pediatrics, Beijing, China.
Yanxia ZhangDepartment of General Surgery, Capital Institute of Pediatrics, Beijing, China.
Xuemin LüDepartment of Pediatric Orthopedics, Beijing Jishuitan Hospital, Beijing, China.
Tianren WangShenzhen Key Laboratory of Fertility Regulation, Reproductive Medicine Center, The University of Hong Kong-Shenzhen, Shenzhen, China.
Naijun WanDepartment of Pediatrics, Beijing Jishuitan Hospital, Beijing, China.
Capital Institute of Pediatrics · CNPeking University · CNUniversity of Hong Kong · HKBeijing Jishuitan Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 assay suggested that estradiol and prolactin were elevated, and the x-ray of limbs suggested enchondroma. Pelvic ultrasound and abdominal CT revealed a right ovarian solid mass. Pathologic examination of the right ovarian solid mass showed a juvenile granulosa cell type. A c.394C>T (p. Arg132Cys) mutation of the IDH1 gene was detected in both the ovarian juvenile granulosa cell tumors and enchondroma. Transfection of HeLa cells with either WT or Mut plasmid caused 4.46- or 3.77-fold overexpression of IDH1 gene compared to non-transfected control cells, respectively. R132C mutation inhibited the phosphorylation of S6 ribosomal protein, which is central to the mTOR pathway. Postoperatively, estradiol and prolactin levels fell to values normal for her age and bilateral breast gradual retraction. Conclusion: The incidence of ovarian juvenile granulosa cell tumors with Ollier's disease in children may be caused by generalized mesodermal dysplasia; IDH1 gene mutation may play a facilitated role in this process. Surgical operation is the main treatment. We suggest that patients with ovarian juvenile granulosa cell tumors and Ollier's disease should undergo regular investigation.

Indexed as

EnchondromatosisGranulosa Cell TumorChildChild, PreschoolEstradiolFemaleHeLa CellsHumansIsocitrate DehydrogenaseProlactinRetrospective StudiesRibosomal ProteinsEstradiolIDH1 protein, humanIsocitrate DehydrogenaseProlactinRibosomal ProteinschildrengeneIDH1juvenile granulosa cell tumorsOllier’s diseaseovarian

Identifiers

PMID37324278
PMCPMC10265673
OpenAlexW4378905530

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.