FOXL2 c.402C G (p.Cys134Trp)-Mutant Ovarian Sertoli-Leydig Cell Tumor

Preferred Label : FOXL2 c.402C G (p.Cys134Trp)-Mutant Ovarian Sertoli-Leydig Cell Tumor;

NCIt synonyms : FOXL2 c.402C G (p.Cys134Trp)-Mutant Sertoli-Leydig Cell Tumor;

NCIt definition : Ovarian Sertoli-Leydig cell tumor characterized by mutation at position 402 of the coding sequence of the FOXL2 gene where cytosine has been replaced by guanine. It is associated with moderately and poorly differentiated histological features and absence of retiform or heterologous elements. It is described in postmenopausal patients.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1794488;

Details

Origin ID

C189329;

UMLS CUI

C5708377;

Disease excludes abnormal cell
- Neoplastic Germ Cell [NCIt concept]
Disease may have findings
- Amenorrhea [NCIt concept]
- Hirsutism [NCIt concept]
- Hoarseness [NCIt concept]
- Menorrhagia [NCIt concept]
- Metrorrhagia [NCIt concept]
Has associated anatomic sites
- Adnexa [NCIt concept]
- Female Reproductive System [NCIt concept]
- Genitourinary System [NCIt concept]
- Ovary [NCIt concept]
- Reproductive System [NCIt concept]
- Uterine Adnexa [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Leydig Cell [NCIt concept]
- Neoplastic Sertoli Cell [NCIt concept]
- Neoplastic Sex Cord-Stromal Cell [NCIt concept]
- Neoplastic Stromal Cell [NCIt concept]
disease_has_molecular_abnormality
- FOXL2 NM_023067.4:c.402C>G [NCIt concept]
- FOXL2 NP_075555.1:p.C134W [NCIt concept]
disease_has_primary_anatomic_site
- Ovary [NCIt concept]
disease_mapped_to_gene
- FOXL2 Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Trisomy 8 [NCIt concept]
pathogenesis_of_disease_involves_gene
- FOXL2 Gene [NCIt concept]
- FOXL2 wt Allele [NCIt concept]

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