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FOXL2 Mutation Stat...
FOXL2 Mutation Status in Sex Cord-stromal Tumors Cannot be Predicted by Morphology
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- Wessman, Sandra (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Fuentes, Beatriz Bohorquez (författare)
- Karolinska University Hospital
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- Severin-Karlsson, Josefin (författare)
- Karolinska University Hospital
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- Westbom-Fremer, Sofia (författare)
- Lund University,Lunds universitet,Bröst- och ovarialcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Bröst/ovarialcancer,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breast and Ovarian Cancer Genomics,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Breast/ovarian cancer,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Nistér, Monica (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Kokaraki, Georgia (författare)
- Indiana University,Karolinska University Hospital,University of Southern California
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- Petta, Tirzah Braz (författare)
- Indiana University,University of Southern California,Federal University of Rio Grande do Norte
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- Haglund, Felix (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Carlson, Joseph W. (författare)
- Indiana University,Karolinska University Hospital,University of Southern California
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(creator_code:org_t)
- 2024
- 2024
- Engelska 12 s.
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Ingår i: International Journal of Gynecological Pathology. - 0277-1691. ; 43:1, s. 78-89
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Granulosa-cell tumors (GCTs) are the most common type of malignant ovarian sex cord-stromal tumor (SCST). The histopathologic diagnosis of these tumors can be challenging. A recurrent somatic mutation of the forkhead box L2 (FOXL2) gene has been identified in adult GCT. In this retrospective single-center study of 44 SCST, a morphologic review together with analysis of FOXL2 C134W was evaluated in relation to tumor morphology. In addition, TERT promoter mutation testing was performed. Twelve of 36 cases got an altered diagnosis based on morphology alone. The overarching architectural growth pattern in 32/44 (72.7%) tumors was diffuse/solid with several tumors showing markedly heterogeneous architecture. In correlation to FOXL2 C134W mutation status, cytoplasmic color, and nuclear shape, differed between the FOXL2 C134W positive and FOXL2 C134 W negative groups, but these differences were not significant when comparing them separately. Nineteen of 44 cases underwent TERT promoter sequencing with a positive result in 3 cases; 2 adult GCTs and 1 cellular fibroma. Three patients developed a recurrence of which 2 were FOXL2 C134W positive adult GCTs and the third was an unclassified SCST. In conclusion, the morphologic and immunohistochemical diagnosis of different SCSTs is challenging and one cannot reliably identify FOXL2 mutation-positive tumors solely by morphologic features. Therefore, broad use of molecular analysis of the FOXL2 C134W mutation is suggested for SCSTs, and further studies are needed to evaluate the clinical outcome of these tumors as well as the diagnostic and prognostic implications of TERT promoter mutations.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- Adult granulosa cell tumors
- FOXL2
- Morphologic features
- Sex cord-stromal tumors
- TERT
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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