scholarly journals The FOXL2 Mutation (c.402C^|^gt;G) in Adult-Type Ovarian Granulosa Cell Tumors of Three Japanese Patients: Clinical Report and Review of the Literature

2013 ◽  
Vol 231 (4) ◽  
pp. 243-250 ◽  
Author(s):  
Akimasa Takahashi ◽  
Fuminori Kimura ◽  
Akiyoshi Yamanaka ◽  
Akie Takebayashi ◽  
Nobuyuki Kita ◽  
...  
2016 ◽  
Vol 143 (3) ◽  
pp. 571-577 ◽  
Author(s):  
Saara Bryk ◽  
Anniina Färkkilä ◽  
Ralf Bützow ◽  
Arto Leminen ◽  
Johanna Tapper ◽  
...  

2013 ◽  
Vol 11 (1) ◽  
Author(s):  
Sakina Sekkate ◽  
Mouna Kairouani ◽  
Badr Serji ◽  
Adnane Tazi ◽  
Hind Mrabti ◽  
...  

Rare Tumors ◽  
2011 ◽  
Vol 3 (4) ◽  
pp. 117-119 ◽  
Author(s):  
Zhao Song ◽  
David J. Vaughn ◽  
Zhanyong Bing

Granulosa cell tumors can be classified into juvenile and adult types and more commonly occur in ovaries. Adult testicular granulosa cell tumors are extremely rare and only 29 cases of adult type have previously been reported. We report here a 28-year old Caucasian man with a left testicular adult type granulosa cell tumor. The tumor measured 2.6×2.6×2.5 cm and was mitotically active (10/10 HPF). Immunohistochemical stains showed the tumor diffusely positive for inhibin and vimentin, and negative for epithelial membrane antigen, cytokeratins, synaptophysin, HMB-45, OCT-4, placental-like alkaline phosphatase and lymphoid markers. The reported granulosa cell tumors in adult testis were briefly reviewed.


2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 5567-5567
Author(s):  
Robert Tyler Hillman ◽  
Douglas I. Lin ◽  
David Marc Gershenson

5567 Background: The FDA has separately approved pembrolizumab for all advanced solid tumors with either microsatellite instability or high tumor mutational burden (≥10 mutations per megabase), and homologous recombination deficiency is an established biomarker for response to poly ADP ribose polymerase inhibitors in epithelial ovarian cancer. The detection of these predictive biomarkers in adult-type ovarian granulosa cell tumors could identify novel treatment strategies in this rare disease. The primary objective of this study was to determine the prevalence of established predictive biomarkers among molecularly defined adult-type ovarian granulosa cell tumors. Methods: With institutional review board approval, we performed a cross-sectional study examining de-identified FoundationOne companion diagnostic molecular profiles for 423 women with molecularly defined (FOXL2 c.C402G positive) adult type ovarian granulosa cell tumors. The dataset was comprised of coding variants for up to 406 genes as well as genomic signatures including microsatellite instability, tumor mutational burden, and genome wide loss of heterozygosity. PD-L1 expression by immunohistochemistry was also available for a subset of tumors. Descriptive statistics were used for comparison between groups and all statistical tests were two-sided. Results: Women in this cohort had a mean age of 57 years (range 24-87) at the time of sample submission for molecular profiling. The median tumor mutational burden was 1.3 mutations per megabase [mut/Mb] (range 0-8.8 mut/Mb). TP53-mutated aGCT had a higher tumor mutation burden than TP53 non-mutated tumors (median 2.4 mut/Mb, 95% CI 1.7-3.0 mut/Mb vs median 1.3 mut/Mb, 95% CI 1.5-1.9 mut/Mb; P=.02). All 384 tumors with available microsatellite instability testing were microsatellite stable. Sixty-seven tumors had PD-L1 expression measured and of these 94% (63/67) were negative with the remainder “low positive.” No tumors were positive for genome wide loss of heterozygosity. Apart from FOXL2 c.C402G, the most frequent short variants were TERT promoter mutations (-124C>T: 190/423, 45.0%; -146C>T: 39/423, 9.2%). Other frequently observed variants included truncating mutations in KMT2D/MLL2 (71/423, 16.8%), pathogenic TP53 mutations (35/423, 8.3%), CDKN2A/B deletions (43/423, 10.2%), and activating PIK3CA mutations (23/423, 5.4%). Conclusions: No women with molecularly defined adult-type ovarian granulosa cell tumors in this large cross-sectional study would be eligible for FDA-approved pembrolizumab based on either microsatellite instability or high tumor mutational burden. No tumors exhibited evidence of homologous recombination deficiency and molecularly targetable mutations were rare. The development of novel precision treatment options remains a critical unmet need for this rare disease.


2012 ◽  
Vol 124 (2) ◽  
pp. 244-249 ◽  
Author(s):  
Hsu-Dong Sun ◽  
Hao Lin ◽  
Mei-Shan Jao ◽  
Kung-Liahng Wang ◽  
Wen-Shiung Liou ◽  
...  

2006 ◽  
Vol 101 (1) ◽  
pp. 18-23 ◽  
Author(s):  
Sebastian Leibl ◽  
Koppany Bodo ◽  
Margit Gogg-Kammerer ◽  
Andelko Hrzenjak ◽  
Edgar Petru ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document