Subtype
Ovarian Sex Cord-Stromal Tumor
CI-CAN-00003551Explore in graph →
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Subtype
CI-CAN-00003551Explore in graph →
Variants & evidence
23 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| DICER1 D1709E1 | ||||||||
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | C | Supports Predisposition | 2 | accepted | EID5888DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two mutations in D1709E… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1709G2 | ||||||||
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | C | Supports Predisposition | 3 | accepted | EID5887DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1709G. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| (oncogenic) | Granulosa Cell Tumor | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID5897DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with one mutation in a Juvenile ovarian granulosa-cell tumor (1/14; 7%). This individual had a somat… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1709N2 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Does Not Support Positive | 4 | accepted | EID5534In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | B | Supports Predisposition | 3 | accepted | EID5886DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were ten mutations in D1709N… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1810H1 | ||||||||
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | C | Supports Predisposition | 2 | submitted | EID5889DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810H. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1810N1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5891DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in D1810N. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 D1810Y1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5890DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%).Two Sertoli-Lydig cell tumors harbo… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1705K3 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID5533Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| (predisposing) | Ovarian Sertoli-Leydig Cell TumorALIAS | Predisposing | B | Supports Predisposition | 3 | submitted | EID5885DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were five mutations in E1705… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| (diagnostic) | Ovarian GynandroblastomaALIAS | |||||||
| DICER1 E1813G1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5893DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813G. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813K1 | ||||||||
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID5894DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There was one mutation in E1813K. PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 E1813Q2 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Does Not Support Positive | 4 | accepted | EID5535In this exploratory study of Sertoli-Leydig cell tumors, DICER1 mutations were found in over half of the samples sequenced, but were not found to have any role in tumorigenesis, contrary to what was p… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID5892DICER1 mutations in the RNase IIIb domain were found in 29% of nonepithelial ovarian tumors (n=103) with high predominance in Sertoli-Lydig cell tumors (26/43; 60%). There were two patients with E1813… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| DICER1 G1809R1 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID12324Sanger sequencing identified DICER1 hotspot mutations in 20 of 32 (63%) ovarian Sertoli–Leydig cell tumors. These mutations were unrelated to tumor differentiation and mostly (16/20, 80%) were E1705K.… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| DICER1 Loss-of-function1 | ||||||||
| (predisposing) | Ovarian GynandroblastomaALIAS | Predisposing | A | Supports Predisposition | 2 | submitted | EID11479In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
| DICER1 RNase IIIb Mutation3 | ||||||||
| (diagnostic) | Ovarian Sertoli-Leydig Cell TumorALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID13129A sequencing analysis of the DICER1 RNase IIIb region in nonepithelial ovarian neoplasms revealed a striking concentration of somatic mutations at residues required for metal binding within the cataly… (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC | civic |
| 〃 | Ovarian GynandroblastomaALIAS | Diagnostic | C | Supports Positive | 2 | submitted | EID11481Genomic analysis identified DICER1 RNase IIIb domain hotspot mutations in 3 of 16 cases of gynandroblastoma, leading the authors to suggest that DICER1 hotspot mutations are a key driver in a subset o… (full text at CIViC) PMID 29660837 · Wang et al., 2018 · Open in CIViC | civic |
| (oncogenic) | Ovarian Sertoli-Leydig Cell TumorALIAS | |||||||
| DICER1 Loss-of-function + DICER1 RNase IIIb Mutation1 | ||||||||
| (diagnostic) | Ovarian GynandroblastomaALIAS | Diagnostic | B | Supports Positive | 3 | submitted | EID11478In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
| FOXL2 C134W2 | ||||||||
| (diagnostic) | Ovarian Sex Cord-Stromal TumorCURATED_BROADER | Diagnostic | A | Supports Positive | 5 | accepted | EID6034FOXL2 mutations were found in 94% of pathologically confirmed A-GCTs (95/101), in one of eight juvenile granulosa cell tumours (J-GCTs), and in two of 19 SLCTs. PMID 26033501 · Goulvent et al., 2016 · Open in CIViC | civic |
| 〃 | Granulosa Cell Tumor | Diagnostic | B | Supports Positive | 4 | accepted | EID479FOXL2 C134W mutation was found in 52 / 56 adult granulosa cell tumors, and is absent in other types of sex-cord stromal tumors, and juvenile granulosa tumors. PMID 20693978 · Jamieson et al., 2010 · Open in CIViC | civic |
Data updated 17 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| Diagnostic |
| C |
| Supports Positive |
| 2 |
| accepted |
EID11480In an analysis of a range of different ovarian sex cord-stromal tumors, 2 of 5 gynandroblastomas were found to have the DICER1 E1705K hotspot mutation supporting a role for DICER1 in a subset of these… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC |
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| Oncogenic |
| D |
| Supports Oncogenicity |
| 4 |
| submitted |
EID13130Somatic missense alterations repeatedly affecting the metal-coordinating residues of the DICER1 RNase IIIb domain, particularly E1705, D1709, D1810, and E1813, were found across nonepithelial ovarian … (full text at CIViC) PMID 22187960 · Heravi-Moussavi et al., 2012 · Open in CIViC |
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