FOXL2 : a gene central to ovarian function
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ..
The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. Germline FOXL2 mutations have been identified in blepharophimosis/ptosis/epicanthus inversus syndrome. The somatic missense mutation in FOXL2 (FOXL2 C134W) is now known to be the defining molecular feature of adult-type granulosa cell tumour of the ovary, present in over 90% of cases of this tumour type. Immunohistochemistry for FOXL2 is used as a marker of sex cord-stromal differentiation. However, expression is not restricted to lesions harbouring FOXL2 mutations, and it is positive in a variety of sex cord-stromal proliferations other than adult-type granulosa cell tumour.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:76 |
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| Enthalten in: |
Journal of clinical pathology - 76(2023), 12 vom: 23. Dez., Seite 798-801 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Mubeen, Aysha [VerfasserIn] |
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| Links: |
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| Themen: |
Eye Diseases |
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| Anmerkungen: |
Date Completed 27.11.2023 Date Revised 06.12.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1136/jcp-2023-208827 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a © Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. | ||
| 520 | |a The FOXL2 (forkhead box L2) gene is located on chromosome 3 and encodes for forkhead box (FOX) family of transcription factors which play a critical role in various biological processes. Germline FOXL2 mutations have been identified in blepharophimosis/ptosis/epicanthus inversus syndrome. The somatic missense mutation in FOXL2 (FOXL2 C134W) is now known to be the defining molecular feature of adult-type granulosa cell tumour of the ovary, present in over 90% of cases of this tumour type. Immunohistochemistry for FOXL2 is used as a marker of sex cord-stromal differentiation. However, expression is not restricted to lesions harbouring FOXL2 mutations, and it is positive in a variety of sex cord-stromal proliferations other than adult-type granulosa cell tumour | ||
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