FOXL2 molecular testing in ovarian neoplasms: diagnostic approach and procedural guidelines

Kommoss, Stefan; Anglesio, Michael S.; Mackenzie, Robertson; Yang, Winnie; Senz, Janine; Ho, Julie; Bell, Lynda; Lee, Sylvia; Lorette, Julie; Huntsman, David G.; Gilks, C. Blake

doi:10.1038/modpathol.2012.226

Cited by 77 publications

(66 citation statements)

References 13 publications

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“…3). This data is in keeping with the 2013 study by Kommoss et al (29), which highlighted the utility of FOXL2 mutation testing in the original and relapsed tumor, in a single case of unclear or mistaken gynecological diagnosis (29). As a practical consequence, in cases of metastasis from unknown primary lesions, the positivity of the molecular analysis of FOXL2 could assist the pathologist in finding the correct diagnosis of GCT of the ovary, as shown by the present data.…”

Section: Discussionsupporting

confidence: 69%

FOXL2 molecular status in adult granulosa cell tumors of the ovary: A study of primary and metastatic cases

Zannoni

Improta²,

Petrillo

et al. 2016

Oncology Letters

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Abstract. Granulosa cell tumors (GCTs) of the ovary are uncommon neoplasms, accounting for ~5% of all malignant ovarian tumors. GCTs are a relatively homogeneous group of tumors, categorized into two distinct subtypes, juvenile GCT and adult GCT (AGCT), likely arising from a limited set of molecular events usually involving the disruption of pathways that regulate granulosa cell proliferation. In the present study, the presence of forkheadbox L2 (FOXL2) c.402C>G mutation was investigated in a series of 42 samples of primary and metastatic AGCT of the ovary. The samples consisted of 37 primary and 5 metastatic ovarian AGCTs from 37 patients. FOXL2 mutational status was evaluated using a pyrosequencing approach on 2.5-µm sections of formalin-fixed paraffin-embedded tissue. FOXL2 c.402C>G mutation was found in 33/37 (89.2%) primary AGCTs and in 4/5 (80.0%) metastases, with the molecular status of the metastases recapitulating that of the primary tumors (4 mutated cases and 1 wild-type case). Overall, FOXL2 mutation is present in the majority of primary and metastatic AGCTs, and could be used as a valid tool in the diagnosis of the disease and in cases of metastatic lesions from an unknown primary origin. Moreover the concordance of FOXL2 molecular status in primary and associated metastases suggests its early appearance and genomic stability in AGCT tumorigenesis.

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Section: Discussionsupporting

confidence: 69%

FOXL2 molecular status in adult granulosa cell tumors of the ovary: A study of primary and metastatic cases

Zannoni

Improta²,

Petrillo

et al. 2016

Oncology Letters

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“…Recently, it has been shown that a high percentage of ovarian AGCTs harbor a somatic missence (gain of function) mutation in codon C134W (402C-G) of FOXL2 gene (26)(27)(28)(29)(30)(31)(32)(33). This involves a gene encoding a transcription factor known to be critical for granulosa cell development (26).…”

Section: Discussionmentioning

confidence: 99%

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations

Croce

Kock

Boshari

et al. 2016

International Journal of Gynecological Pathology

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Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare neoplasm which morphologically and immunohistochemically exhibits overlap with an ovarian sex cord tumor. Although many of these neoplasms are positive with markers of ovarian sex cord-stromal tumors, staining is often limited and the pathogenesis of UTROSCT is unknown. To further explore the sex cord lineage of UTROSCT, we studied 19 of these neoplasms and examined the expression of 2 recently described markers of ovarian sex cord-stromal tumors, FOXL2, and steroidogenic factor-1. We also undertook FOXL2 and DICER1 mutation analysis in these cases; a somatic missense mutation in codon C134W (402C→G) of FOXL2 gene has been demonstrated in the vast majority (>95%) of ovarian adult granulosa cell tumors and somatic DICER1 mutations are found in approximately 60% of ovarian Sertoli-Leydig cell tumors. Ten of 19 cases (53%) exhibited nuclear immunoreactivity with FOXL2 and 11 of 19 (58%) exhibited nuclear staining with steroidogenic factor-1. Neither FOXL2 nor DICER1 mutations were identified in any case where there was sufficient tumor tissue for analysis (18 and 9 cases, respectively). Despite exhibiting an immunophenotype characteristic of a sex cord-stromal tumor, mutations in FOXL2 and DICER1, the 2 most common mutations hitherto reported in ovarian sex cord-stromal tumors, are not a feature of UTROSCT.

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“…It has been suggested that molecular testing for FOXL2 mutation might be a useful tool in the diagnosis of adult-type granulosa cell tumors (Kommoss et al, 2013). It is classically known that preoperative serum level of CA125 is an important diagnostic and prognostic factor for the ovarian malignancies.…”

Section: Discussionmentioning

confidence: 99%

Parameters for Predicting Granulosa Cell Tumor of the Ovary: A Single Center Retrospective Comparative Study

Yeşilyurt¹,

Tokmak²,

Güzel³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Background: To evaluate factors for predicting the granulosa cell tumor of the ovary (GCTO) pre-operatively. Materials and Methods: This retrospective designed study was conducted on 34 women with GCTO as the study group and 76 women with benign ovarian cysts as the control group. Data were recorded from the hospital database and included age, body mass index (BMI), parity, serum estradiol (E 2 ) levels, diameter of the mass, ultrasonographic features, serum CA125 level, risk of malignancy index (RMI), duration of menopause, postoperative histopathology result, and the neutrophil/lymphocyte ratio (NLR). Results: The demographic parameters showed no statistically significant difference between the groups. Preoperative diameter of the mass, CA125, duration of menopause, and neutrophil/lymphocyte ratio were significantly different between the groups. ROC curve analysis demonstrated that diameter of the mass, serum estradiol and Ca125 levels, RMI and NLR may be discriminative factors in predicting GCTO preoperatively. Conclusions: In conclusion, we think that a careful preoperative workshop including diameter of the mass, serum estradiol (E 2 ) and Ca125 levels, RMI and NLR may predict GCTO and may prevent incomplete approaches.

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FOXL2 molecular testing in ovarian neoplasms: diagnostic approach and procedural guidelines

Cited by 77 publications

References 13 publications

FOXL2 molecular status in adult granulosa cell tumors of the ovary: A study of primary and metastatic cases

FOXL2 molecular status in adult granulosa cell tumors of the ovary: A study of primary and metastatic cases

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations

Parameters for Predicting Granulosa Cell Tumor of the Ovary: A Single Center Retrospective Comparative Study

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