ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
Genomic profiling of primary and recurrent adult granulosa cell tumors of the ovary.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 63 citations in OpenAlex.
- Phase II clinical trial of nirogacestat in patients with relapsed ovarian granulosa cell tumours.Clinical and translational medicine · 2026Trial
- Cyclin-dependent kinase 4/6 inhibitors in granulosa cell tumors and their combination with hormonal therapy: a scoping review.Frontiers in oncology · 2026Review
- Ovarian Sex Cord Tumor With Annular Tubules (SCTAT) Harbor Recurrent Copy Number Alterations, Including Monosomy 22.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Uterine leiomyosarcoma progression: A study of serial recurrences.Gynecologic oncology · 2025Article
- A Subset of Serous Tubal Intraepithelial Carcinoma (STIC)-Like Lesions and Concurrent High-Grade Endometrial Carcinoma Are Genomically Related Entities.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds.Molecular oncology · 2025Article
- ERBB2 mutations define a subgroup of endometrial carcinomas associated with high tumor mutational burden and the microsatellite instability-high (MSI-H) molecular subtype.Molecular oncology · 2024Article
- Adenoid cystic carcinoma of the Bartholin's gland is underpinned by MYB- and MYBL1- rearrangements.Gynecologic oncology · 2024Article
- Comparative Tumor Microenvironment Analysis of Primary and Recurrent Ovarian Granulosa Cell Tumors.Molecular cancer research : MCR · 2023Article
- ERβ in Granulosa Cell Tumors and Its Clinical Potential.Endocrinology · 2023Review
- Molecular Characterization of Acquired Resistance to KRASG12C-EGFR Inhibition in Colorectal Cancer.Cancer discovery · 2023Article
- Comprehensive Genomic Profiling of Cell-Free Circulating Tumor DNA Detects Response to Ribociclib Plus Letrozole in a Patient with Metastatic Breast Cancer.Biomolecules · 2022Article
- Mullerian adenosarcoma: clinicopathologic and molecular characterization highlighting recurrent BAP1 loss and distinctive features of high-grade tumors.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- ESR1 hotspot mutations in endometrial stromal sarcoma with high-grade transformation and endocrine treatment.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Can adjuvant chemotherapy improve the prognosis of adult ovarian granulosa cell tumors?: A narrative review.Medicine · 2022Review
- Analysis of Non-Relapsed and Relapsed Adult Type Granulosa Cell Tumors Suggests Stable Transcriptomes during Tumor Progression.Current issues in molecular biology · 2022Article
- Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Cytologic features of sex cord-stromal tumors in women.Cancer cytopathology · 2022Article
- Adult-type granulosa cell tumor of the ovary.American journal of cancer research · 2022Review
Corrections and comments
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Authors and funding
19 authors at 4 institutions in 4 countries.
Funding
Abstract
Adult-type granulosa cell tumor (aGCT) is a rare malignant ovarian sex cord-stromal tumor, harboring recurrent FOXL2 c.C402G/p.C134W hotspot mutations in 97% of cases. These tumors are considered to have a favorable prognosis, however aGCTs have a tendency for local spread and late recurrences, which are associated with poor survival rates. We sought to determine the genetic alterations associated with aGCT disease progression. We subjected primary non-recurrent aGCTs (n = 7), primary aGCTs that subsequently recurred (n = 9) and their matched recurrences (n = 9), and aGCT recurrences without matched primary tumors (n = 10) to targeted massively parallel sequencing of ≥410 cancer-related genes. In addition, three primary non-recurrent aGCTs and nine aGCT recurrences were subjected to FOXL2 and TERT promoter Sanger sequencing analysis. All aGCTs harbored the FOXL2 C134W hotspot mutation. TERT promoter mutations were found to be significantly more frequent in recurrent (18/28, 64%) than primary aGCTs (5/19, 26%, p = 0.017). In addition, mutations affecting TP53, MED12, and TET2 were restricted to aGCT recurrences. Pathway annotation of altered genes demonstrated that aGCT recurrences displayed an enrichment for genetic alterations affecting cell cycle pathway-related genes. Analysis of paired primary and recurrent aGCTs revealed that TERT promoter mutations were either present in both primary tumors and matched recurrences or were restricted to the recurrence and absent in the respective primary aGCT. Clonal composition analysis of these paired samples further revealed that aGCTs display intra-tumor genetic heterogeneity and harbor multiple clones at diagnosis and relapse. We observed that in a subset of cases, recurrences acquired additional genetic alterations not present in primary aGCTs, including TERT, MED12, and TP53 mutations and CDKN2A/B homozygous deletions. Albeit harboring relatively simple genomes, our data provide evidence to suggest that aGCTs are genetically heterogeneous tumors and that TERT promoter mutations and/or genetic alterations affecting other cell cycle-related genes may be associated with disease progression and recurrences.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.