RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report Article Swipe
Elisa Gelli
,
Chiara Fallerini
,
Floriana Valentino
,
Annarita Giliberti
,
Francesca Castiglione
,
Lucrezia Laschi
,
Maria Palmieri
,
Alessandra Fabbiani
,
Rossella Tita
,
Maria Antonietta Mencarelli
,
Alessandra Renieri
,
Francesca Ariani
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.3389/fonc.2020.01467
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.3389/fonc.2020.01467
Malignant ovarian germ cell tumors (MOGCTs) are neoplasms of the ovary, of which, due to their rarity and heterogeneity, few is reported about genetic background and development. Here, we report a 18-years old patient diagnosed with an ovarian mixed germ cell tumor, without any previous history of malignancies, who has been treated with surgery and chemotherapy and died 4 years later due to peritoneal metastasis complications. Patient's blood DNA was screened for a panel of 52 cancer-related genes in order to identify predisposing aberrations to this rare cancer. The analysis discovered the uncharacterized c.2393G>A variant in RB1, the retinoblastoma gene, leading both to a missense change and a splicing perturbation of the RB1 transcript. The variant was found to be hypomorphic, damaging the C-terminal domain with a partially impaired protein function. The variant is inherited from the unaffected mother. Due to an imprinting mechanism, the maternal allele is ~3-fold more expressed than the paternal one. The parent-of-origin effect combined with the hypomorphic impact of the variant determines a rescue of sufficient tumor-suppressor activity to prevent retinoblastoma development but can predispose to other cancers in the adult age. In order to understand the somatic events acting on the germline predisposition we used the NGS-liquid biopsy covering 77 cancer driver genes. Using this approach, we detected deleterious mutations in TP53, SMAD4, FGFR3, and MSH2, indicative of a dis-regulation of cell cycle and DNA repair mechanisms pathways. In conclusion, we have pinpointed for the first time that an RB1 leaky variant, not leading to retinoblastoma because of its maternal origin, can predispose in adults to a very rare form of ovarian cancer and that the somatic disruption of few genes contributes to the tumor progression and aggressiveness.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fonc.2020.01467
- https://www.frontiersin.org/articles/10.3389/fonc.2020.01467/pdf
- OA Status
- gold
- Cited By
- 2
- References
- 45
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3066509370
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3066509370Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fonc.2020.01467Digital Object Identifier
- Title
-
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case ReportWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-08-21Full publication date if available
- Authors
-
Elisa Gelli, Chiara Fallerini, Floriana Valentino, Annarita Giliberti, Francesca Castiglione, Lucrezia Laschi, Maria Palmieri, Alessandra Fabbiani, Rossella Tita, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca ArianiList of authors in order
- Landing page
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https://doi.org/10.3389/fonc.2020.01467Publisher landing page
- PDF URL
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https://www.frontiersin.org/articles/10.3389/fonc.2020.01467/pdfDirect link to full text PDF
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.frontiersin.org/articles/10.3389/fonc.2020.01467/pdfDirect OA link when available
- Concepts
-
Germline, Germ cell, Medicine, Cancer research, Germ cell tumors, Germline mutation, Oncology, Biology, Internal medicine, Mutation, Genetics, Gene, ChemotherapyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 1, 2021: 1Per-year citation counts (last 5 years)
- References (count)
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45Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.conclusion, | 235 |
| abstract_inverted_index.contributes | 277 |
| abstract_inverted_index.deleterious | 214 |
| abstract_inverted_index.development | 176 |
| abstract_inverted_index.hypomorphic | 161 |
| abstract_inverted_index.progression | 281 |
| abstract_inverted_index.transcript. | 113 |
| abstract_inverted_index.<i>MSH2</i>, | 221 |
| abstract_inverted_index.chemotherapy | 55 |
| abstract_inverted_index.development. | 26 |
| abstract_inverted_index.hypomorphic, | 120 |
| abstract_inverted_index.perturbation | 109 |
| abstract_inverted_index.predisposing | 82 |
| abstract_inverted_index.malignancies, | 47 |
| abstract_inverted_index.cancer-related | 76 |
| abstract_inverted_index.complications. | 65 |
| abstract_inverted_index.dis-regulation | 225 |
| abstract_inverted_index.heterogeneity, | 18 |
| abstract_inverted_index.predisposition | 198 |
| abstract_inverted_index.retinoblastoma | 98, 175, 251 |
| abstract_inverted_index.aggressiveness. | 283 |
| abstract_inverted_index.uncharacterized | 92 |
| abstract_inverted_index.parent-of-origin | 156 |
| abstract_inverted_index.tumor-suppressor | 171 |
| cited_by_percentile_year.max | 94 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5038356114 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 12 |
| corresponding_institution_ids | https://openalex.org/I102064193, https://openalex.org/I4210134849 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.8399999737739563 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.54927433 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |