Details of Disease

General Information of Disease (ID: DISKWVAB)

• Disease Name: Granulosa cell tumor
• Synonyms: granulosa cell tumor, undetermined; GRCT; tumour of granulosa cell; granulosa cell tumor; tumor of granulosa cell; granulosa cell tumor, adult type; granulosa cell neoplasm (disease); granulosa cell neoplasm; granulosa cell tumor, adult type (morphologic abnormality); neoplasm of granulosa cell; granulosa cell tumor, sarcomatoid
• Definition: A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.
• Disease Hierarchy:
  :
  DISTBY9Z: Tumour
  DISGQU9D: Endocrine gland neoplasm
  DISKWVAB: Granulosa cell tumor
• Disease Identifiers:
  MONDO ID: MONDO_0006036
  UMLS CUI: C0018206
  MedGen ID: 6676

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APC2	TTSMK36	Limited	Biomarker	[1]
BCL2L2	TTQ79W8	Limited	Biomarker	[2]
HOXA7	TTMRE4Q	Limited	Biomarker	[3]
BRD2	TTDP48B	Strong	Genetic Variation	[4]
CMKLR1	TT4UGZL	Strong	Biomarker	[5]
FSHR	TTZFDBT	Strong	Genetic Variation	[4]
FST	TTDNM9W	Strong	Genetic Variation	[6]
GATA4	TT1VDN2	Strong	Altered Expression	[7]
LEPR	TT0HD6V	Strong	Biomarker	[8]
SMAD1	TT9GR53	Strong	Biomarker	[9]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMH	OT5FH4BD	Limited	Biomarker	[10]
GDF9	OTNTVKVU	Limited	Genetic Variation	[11]
HTRA3	OTXJ0H4X	Limited	Altered Expression	[12]
INHA	OT7HWCO3	Limited	Biomarker	[13]
INTS13	OTWE6180	Limited	Genetic Variation	[14]
RARRES2	OT1BJE8K	Strong	Altered Expression	[5]
SMAD5	OTQNSVCQ	Strong	Altered Expression	[15]

References

• [1] APC2 is critical for ovarian WNT signalling control, fertility and tumour suppression.BMC Cancer. 2019 Jul 10;19(1):677. doi: 10.1186/s12885-019-5867-y.
• [2] Analysis of selected oncogenes (AKT1, FOS, BCL2L2, TGFbeta) on chromosome 14 in granulosa cell tumors (GCTs): a comprehensive study on 30 GCTs combining comparative genomic hybridization (CGH) and fluorescence-in situ-hybridization (FISH).Pathol Res Pract. 2008;204(11):823-30. doi: 10.1016/j.prp.2008.07.009. Epub 2008 Sep 6.
• [3] Cell type- and stage-specific changes in HOXA7 protein expression in human ovarian folliculogenesis: possible role of GDF-9.Differentiation. 2006 Feb;74(1):1-10. doi: 10.1111/j.1432-0436.2006.00053.x.
• [4] No activating mutations of FSH receptor in four children with ovarian juvenile granulosa cell tumors and the association of these tumors with central precocious puberty.J Pediatr Adolesc Gynecol. 2009 Jun;22(3):173-9. doi: 10.1016/j.jpag.2008.10.003.
• [5] Bisphenol A and its derivatives decrease expression of chemerin, which reverses its stimulatory action in ovarian cancer cells. Toxicol Lett. 2018 Jul;291:61-69. doi: 10.1016/j.toxlet.2018.04.004. Epub 2018 Apr 10.
• [6] Mutational analysis of FOXL2 p.C134W and expression of bone morphogenetic protein 2 in Japanese patients with granulosa cell tumor of ovary.J Obstet Gynaecol Res. 2014 May;40(5):1197-204. doi: 10.1111/jog.12324. Epub 2014 Apr 2.
• [7] FOXL2, GATA4, and SMAD3 co-operatively modulate gene expression, cell viability and apoptosis in ovarian granulosa cell tumor cells.PLoS One. 2014 Jan 9;9(1):e85545. doi: 10.1371/journal.pone.0085545. eCollection 2014.
• [8] Superactive human leptin antagonist (SHLA), triple Lan1 and quadruple Lan2 leptin mutein as a promising treatment for human folliculoma.Cancer Chemother Pharmacol. 2017 Oct;80(4):815-827. doi: 10.1007/s00280-017-3423-5. Epub 2017 Aug 31.
• [9] BMP-specific SMADs function as novel repressors of PDGFA and modulate its expression in ovarian granulosa cells and tumors.Oncogene. 2013 Aug 15;32(33):3877-85. doi: 10.1038/onc.2012.392. Epub 2012 Sep 10.
• [10] Anti Mllerian Hormone: More than a biomarker of female reproductive function.J Gynecol Obstet Hum Reprod. 2019 Jan;48(1):19-24. doi: 10.1016/j.jogoh.2018.10.015. Epub 2018 Oct 22.
• [11] Granulosa cell tumor mutant FOXL2C134W suppresses GDF-9 and activin A-induced follistatin transcription in primary granulosa cells.Mol Cell Endocrinol. 2013 Jun 15;372(1-2):57-64. doi: 10.1016/j.mce.2013.03.021. Epub 2013 Apr 6.
• [12] High-temperature requirement factor A3 (Htra3): a novel serine protease and its potential role in ovarian function and ovarian cancers.Mol Cell Endocrinol. 2010 Oct 7;327(1-2):13-8. doi: 10.1016/j.mce.2010.06.001. Epub 2010 Jun 9.
• [13] Comparison of Inhibin Alpha Subunit and Antimllerian Hormone Immunoreactivity in Granulosa Cell and Mucinous Ovarian Tumors.Appl Immunohistochem Mol Morphol. 2017 Jan;25(1):71-77. doi: 10.1097/PAI.0000000000000251.
• [14] Fine map of the Gct1 spontaneous ovarian granulosa cell tumor locus.Mamm Genome. 2013 Feb;24(1-2):63-71. doi: 10.1007/s00335-012-9439-6. Epub 2012 Nov 18.
• [15] TGF signaling promotes juvenile granulosa cell tumorigenesis by suppressing apoptosis.Mol Endocrinol. 2014 Nov;28(11):1887-98. doi: 10.1210/me.2014-1217. Epub 2014 Sep 22.