Spatial transcriptome analysis for squamous cell carcinoma arising from mature teratoma
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ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE272833 | GEO | 2025/03/21
REPOSITORIES: GEO
Similar Datasets
Project description:Spatial transcriptome analysis for squamous cell carcinoma arising from mature teratoma
| PRJNA1139070 | ENA
Project description:Although the gross and microscopic features of squamous cell carcinoma arising from ovarian mature cystic teratoma (MCT-SCC) vary from case to case, the spatial spreading of genomic alterations within the tumor remains unclear. To clarify the spatial genomic diversity in MCT-SCCs, we performed whole-exome sequencing by collecting 16 samples from histologically different parts of two MCT-SCCs. Both cases showed histological diversity within the tumors (case 1: nonkeratinizing and keratinizing SCC and case 2: nonkeratinizing SCC and anaplastic carcinoma) and had different somatic mutation profiles by histological findings. Mutation signature analysis revealed a significantly enriched apolipoprotein B mRNA editing enzyme catalytic subunit (APOBEC) signature at all sites. Intriguingly, the spread of genomic alterations within the tumor and the clonal evolution patterns from nonmalignant epithelium to cancer sites differed between cases. TP53 mutation and copy number alterations were widespread at all sites, including the nonmalignant epithelium, in case 1. Keratinizing and nonkeratinizing SCCs were differentiated by the occurrence of unique somatic mutations from a common ancestral clone. In contrast, the nonmalignant epithelium showed almost no somatic mutations in case 2. TP53 mutation and the copy number alteration similarities were observed only in nonkeratinizing SCC samples. Nonkeratinizing SCC and anaplastic carcinoma shared almost no somatic mutations, suggesting that each locally and independently arose in the MCT. We demonstrated that two MCT-SCCs with different histologic findings were highly heterogeneous tumors with clearly different clones associated with APOBEC-mediated mutagenesis, suggesting the importance of evaluating intratumor histological and genetic heterogeneity among multiple sites of MCT-SCC.
| S-EPMC10154883 | biostudies-literature
Project description:Mature teratomas are usually benign tumors that rarely undergo malignant transformation. We report an advanced neuroblastoma arising in a mature teratoma of the ovary. Whole-exome sequencing identified extensive copy-neutral LOH in both neuroblastoma and teratoma elements, suggesting that the neuroblastoma evolved from the teratoma.
| EGAS00001005116 | EGA
Project description:Primary ovarian neuroendocrine carcinoid tumors are extremely rare. However, their clinical course is good, and hence, fertility-sparing surgery is a feasible treatment option in cases of unilateral localized lesions. In this report, we present the case of a 20-year-old nulliparous woman who was diagnosed as having a primary ovarian neuroendocrine carcinoid tumor arising from a mature cystic teratoma. She underwent laparoscopic right ovarian cystectomy, and her postoperative recovery was uneventful. The patient has been under close observation over a 1-year follow-up period and has shown no evidence of tumor recurrence.
| S-EPMC10018419 | biostudies-literature
Project description: Not available
| S-EPMC11203495 | biostudies-literature
Project description:OBJECTIVE: Although the malignant transformation of sinonasal inverted papilloma (SNIP) into squamous cell carcinomas (SCC) has been reported in the literature, the molecular mechanisms driving this transformation have not been elucidated. This study compares genome-wide DNA methylation between SNIP and SCC arising in SNIP and further validates the expression of aberrantly methylated genes. Methots:We used a comprehensive methylation profiling technique to investigate DNA methylation in CpG islands and promoters in six SNIP samples and seven SCC arising in SNIP samples. A total of 11,201 nominally differentially methylated sites were observed, between SNIP and SCC arising in SNIP. This study is the first to compare the differences in global DNA methylation between SNIP and SCC arising in SNIP.
2019-01-22 | GSE125399 | GEO
Project description:Ovarian mature cystic teratomas comprise tissues derived from all three germ layers. In rare cases, malignant tumors arise from ovarian mature cystic teratoma. A variety of tumors can arise from mature cystic teratoma, among which primary malignant melanoma (MM), for which no molecular analyses such as genomic sequencing have been reported to date, is exceedingly rare, thereby limiting possible therapeutic options using precision medicine. We used targeted gene sequencing to analyze the status of 160 cancer-related genes in a patient with MM arising from an ovarian mature cystic teratoma (MM-MCT). KRAS amplification and homozygous deletion in PTEN and RB1 were detected in tumor samples collected from the patient. No KRAS amplification has been previously reported in cutaneous MM, indicating that the carcinogenesis of MM-MCT differs from that of primary cutaneous melanomas. A better understanding of the underlying genetic mechanisms will help clarify the carcinogenesis of MM-MCT. In turn, this will enable treatment with novel targeting agents as well as the initial exploration of gene-based precision oncological therapies, which aim to improve treatment outcomes for patients with this disease.
| S-EPMC7957566 | biostudies-literature
Project description:In germ cell tumors (GCT), a growing mature teratoma during or after chemotherapy with decreasing tumor markers is defined as ´growing teratoma syndrome` (GTS) according to its first describer Logothetis et al. in 1982. Due to the small number of available cases worldwide, not much is known about this continuously growing tumor and its pathogenesis. Especially in cases with extensive and surgical uncontrollable tumor mass, specific therapeutic options and biomarkers early indicating presence of GTS are still lacking. In this study, GTS was stratified into a slow (< 0.5 cm / month), medium (0.5 – 1.5 cm / month) and rapid (> 1.5 cm / month) group based on the tumor growth rate. We analyzed the secretome of 3 GTS samples of each subgroup and 3 teratomas. The secreted proteins were isolated from ex vivo cultivated tissues and analyzed by liquid-chromatography coupled to mass spectrometry (LS-MS).
2024-11-15 | PXD043529 | Pride
Project description:Molecular characteristics of carcinoma arising from mature cystic teratoma of the ovary (MCT) remain unclear due to its rarity. We analyzed RNA-sequencing data of 2322 pan-cancer [1378 squamous cell carcinomas (SCC), 6 adenosquamous carcinomas (ASC), and 938 adenocarcinomas (AC)] including six carcinomas arising from MCT (four SCCs, one ASC, and one AC). Hierarchical clustering and principal component analysis showed that gene expression profiles of carcinomas arising from MCT were different between each histological type and that gene expression profiles of SCCs arising MCT (MCT-SCCs) was apparently similar to those of lung SCCs. By epidermis-associated pathways activity based on gene set enrichment analysis, 1030 SCCs were divided into two groups: epidermis-signature high (head and neck, esophagus, and skin) and low (cervix, lung, and MCT). In addition to pan-SCC transcriptome analysis, cytokeratin profiling based on immunohistochemistry in the independent samples of 21 MCT-SCCs clarified that MCT-SCC dominantly expressed CK18, suggesting the origin of MCT-SCC was columnar epithelium. Subsequently, we investigated differentially expressed genes in MCT-SCCs compared with different SCCs and identified XCL1 was specifically overexpressed in MCT-SCCs. Through immunohistochemistry analysis, we identified XCL1 expression on tumor cells in 13/24 (54%) of MCT-SCCs but not in MCTs. XCL1 expression was also significantly associated with the number of tumor-infiltrating CD8-positive T cells and PD-L1 expression on tumor cells. XCL1 produced by tumor cells may induce PD1/PD-L1 interaction and dysfunction of CD8-positive T cells in tumor microenvironment. XCL1 expression may be a novel biomarker for malignant transformation of MCT into SCC and a biomarker candidate for therapeutic response to an anti-PD1/PD-L1 therapy.
| S-EPMC7176584 | biostudies-literature
Project description:ObjectiveTo investigate the clinical characteristics and survival outcomes of patients with malignant transformation arising from ovarian mature cystic teratoma (MT-MCT).MethodsThis retrospective study included patients with ovarian MCTs at Peking Union Medical College Hospital (PUMCH) during 1990.01-2020.12. When the pathologic histology was MT-MCT, detailed information was collected.ResultsOverall, 7229 ovarian MCT patients and 22 patients with MT-MCT were enrolled. The rate of malignant transformation of all ovarian MCTs was 0.30%. Most patients with MT-MCT were 51 (21-75) years old, and the tumor mass size was 10 (3-30) cm. The typical clinical symptoms were mainly abdominal pain and distension. The levels of tumor markers were elevated on preoperative examination. Early diagnosis could be made by ultrasonic examination, pelvic enhanced MRI and CT. Most patients underwent debulking surgery and adjuvant chemotherapy. The most common histological type to exhibit malignant transformation was squamous cell carcinoma (59.1%), followed by adenocarcinoma (13.6%), carcinoid (9.1%), and borderline tumor (18.2%). The 5-year RFS and OS rates were 54.5% and 81.8%, respectively. Patients with FIGO stage I had the best RFS (P=0.047) and OS (P=0.018), followed by those with FIGO stage II-IV.ConclusionMT-MCTs mainly occur in elderly females, are rare and have a poor prognosis. Advanced FIGO stage is a risk factor for survival. Although there is no standard treatment, cytoreductive debulking surgery and adjuvant chemotherapy could be considered. Perimenopausal and menopausal women with MCT should receive surgical treatment.
| S-EPMC9124836 | biostudies-literature