| 词条 | Granulosa cell tumour |
| 释义 |
| name = Granulosa cell tumour | image = Juvenile_granulosa_cell_tumour_-_very_high_mag.jpg | caption = Micrograph of a juvenile granulosa cell tumour with hyaline globules. H&E stain. | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Granulosa cell tumours (or granulosa-theca cell tumours or folliculoma) are tumours that arise from granulosa cells. These tumours are part of the sex cord-gonadal stromal tumour or non-epithelial group of tumours. Although granulosa cells normally occur only in the ovary, granulosa cell tumours occur in both ovaries and testicles (see Ovarian cancer and Testicular cancer). These tumours should be considered malignant and treated in the same way as other malignant tumours of ovary. The ovarian disease has two forms, juvenile and adult, both characterized by indolent growth,[1] and therefore has high recovery rates.[2][3] The staging system for these tumours is the same as for epithelial tumours and most present as stage I.[4] The peak age at which they occur is 50–55 years, but they may occur at any age. Juvenile granulosa cell tumour is a similar but distinct rare tumour. It too occurs in both the ovary and testis. In the testis it is extremely rare, and has not been reported to be malignant.[5] Although this tumour usually occurs in children (hence its name), it has been reported in adults.[6]PresentationEstrogens are produced by functioning tumours, and the clinical presentation depends on the patient's age and sex.
GeneticsAdult Granulosa Cell TumorsUsing next generation DNA sequencing, it was discovered that 97% of adult granulosa cell tumours contain an identical mutation in the FOXL2 gene . This is a somatic mutation, meaning it is not usually transmitted to descendants. Mutation c.402C>G in the sequence of FOXL2 leads to the amino acid substitution p. C134W. It is believed that this mutation may be the cause of granulosa cell tumours. Juvenile Granulosa Cell TumorsTwo recent studies show that the enzyme AKT1 is involved in juvenile granulosa cell tumors. In-frame duplications in the pleckstrin-homology domain of the protein were found in more than 60% of juvenile granulosa cell tumors occurring in girls under 15 years of age. The tumors without duplications carried point mutations affecting highly conserved residues. The mutated proteins carrying the duplications displayed a non-wild-type subcellular distribution, with a marked enrichment at the plasma membrane. This led to a striking degree of AKT1 activation demonstrated by a strong phosphorylation level and corroborated by reporter assays.[7] Analysis by RNA-Seq pinpointed a series of differentially expressed genes, involved in cytokine and hormone signaling and cell division-related processes. Further analyses pointed to a possible dedifferentiation process and suggested that most of the transcriptomic dysregulations might be mediated by a limited set of transcription factors perturbed by AKT1 activation. These results incriminate somatic mutations of AKT1 as major probably driver events in the pathogenesis of juvenile granulosa cell tumors.[8] DiagnosisGross appearanceTumors vary in size, from tiny spots to large masses, with an average of 10 cm in diameter. Tumors are oval and soft in consistency. On cut-section, histology reveals reticular, trabecular areas with interstitial haemorrhage and Call-Exner bodies-small cyst like spaces interspersed within a graafian follicle. Tumor markerInhibin, a hormone, has been used as tumor marker for granulosa cell tumor. Treatment{{Empty section|date=February 2018}}Granulosa cell clusters in other speciesIn the ovaries of aging squirrel monkeys (Saimiri sciureus), clusters of granulosa cells occur that resemble granulosa cell tumours in humans.[9] These appear to be a normal change with age in this species. See also
References1. ^{{cite web|title=Prognostic factors in adult granulosa|url=https://www.researchgate.net/publication/227922610}} 2. ^{{cite journal|title=Juvenile granulosa cell tumor of the ovary. A clinic pathological analysis of 125 cases. Beth Israel Deaconess Medical Center, Boston| pmid=6465418 | volume=8 | issue=8|vauthors=Young RH, Dickersin GR, Scully RE | journal=American Journal of Surgical Pathology | pages=575–596 | doi=10.1097/00000478-198408000-00002 | year=1984 }} 3. ^{{cite web|title=Program in Gynecologic Medical Oncology, Beth Israel Deaconess Medical Center, Boston|url=http://cat.inist.fr/?aModele=afficheN&cpsidt=15016574}} 4. ^Gynaecology. 3rd Ed. 2003. Churchill Livingstone, pp. 690-691. 5. ^{{cite journal| vauthors = Dudani R, Giordano L, Sultania P, Jha K, Florens A, Joseph T | title = Juvenile granulosa cell tumor of testis: case report and review of literature | journal = American Journal of Perinatology | volume = 25 | issue = 4 | pages = 229–231 |date=April 2008 | pmid = 18548396 | doi = 10.1055/s-2008-1066878 | issn = }} 6. ^{{cite journal| vauthors = Lin KH, Lin SE, Lee LM | title = Juvenile granulosa cell tumor of adult testis: a case report | journal = Urology| volume = 72 | issue = 1 | pages = 230.e11–3 |date=July 2008 | pmid = 18313118 | doi = 10.1016/j.urology.2007.11.126| url = http://linkinghub.elsevier.com/retrieve/pii/S0090-4295(07)02517-4 | issn = }} 7. ^{{cite journal | vauthors = Bessière L, Todeschini AL, Auguste A, Sarnacki S, Flatters D, Legois B, Sultan C, Kalfa N, Galmiche L, Veitia RA | title = A Hot-spot of In-frame Duplications Activates the Oncoprotein AKT1 in Juvenile Granulosa Cell Tumors | journal = EBioMedicine | volume = 2 | issue = 5 | pages = 421–431 | date = March 2015 | pmid = 26137586 | doi = 10.1016/j.ebiom.2015.03.002 | pmc=4485906}} 8. ^{{cite journal | vauthors = Auguste A, Bessière L, Todeschini AL, Caburet S, Sarnacki S, Prat J, D'angelo E, De La Grange P, Ariste O, Lemoine F, Legois B, Sultan C, Zider A, Galmiche L, Kalfa N, Veitia RA | title = Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads | journal = Human Molecular Genetics | volume = 24 | issue = 23 | pages = 6687–6698 | date = Dec 2015 | pmid = 26362254| doi = 10.1093/hmg/ddv373 }} 9. ^{{cite journal | vauthors = Walker ML, Anderson DC, Herndon JG, Walker LC | title = Ovarian aging in squirrel monkeys (Saimiri sciureus) | journal = Reproduction | volume = 138 | pages = 793–799 | year = 2009 | pmid = 19656956 | doi = 10.1530/REP-08-0449 | issue = 4}} External links{{Medical resources| ICD10 = {{ICD10|C|56||c|51}} | ICD9 = {{ICD9|183 236.2}} | ICDO = 8620 | OMIM = | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 928 | DiseasesDB = | MeshID = D006106 }}{{Gonadal tumors, paraganglioma, glomus, nevi and melanomas}}{{Genital neoplasia}}{{DEFAULTSORT:Granulosa Cell Tumour}} 5 : Gynaecological cancer|Male genital neoplasia|Andrology|Rare cancers|Pediatric cancers |
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