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Next-generation Sequencing of an Ovarian Spindle Cell Tumor Identified an Ovarian Low-grade Endometrial Stromal Sarcoma
- Source :
- International Journal of Gynecological Pathology. 38:474-478
- Publication Year :
- 2019
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2019.
-
Abstract
- Ovarian spindle cell tumors comprise a heterogeneous group of ovarian neoplasms from benign to malignant. Since this morphologic finding describes a broad category of ovarian neoplasms, it is not easy to determine an accurate diagnosis. Low-grade endometrial stromal sarcoma (LG-ESS) is a rare gynecological malignancy that presents with spindle cell lesions. To identify ovarian LG-ESS, we performed whole-exome sequencing and transcriptome sequencing of a spindle cell tumor. The tumor harbored JAZF1-SUZ12, a well-known gene fusion commonly found in uterine LG-ESS. Moreover, 28 non-silent somatic mutations (13 frameshift, 12 missense, 2 nonsense and 1 splicing mutations) with five cancer-related genes (ACSL3, ATM, DST, HGF and PKHD1) were detected. Our results indicate that next-generation sequencing combined with conventional immunohistochemical analysis may be a better strategy than conventional analysis alone to identify ovarian LG-ESS with spindle cell lesions. Moreover, our data suggest that ovarian LG-ESS can harbor genetic characteristics similar to those of uterine LG-ESS.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Somatic cell
Sarcoma, Endometrial Stromal
Cell
Biology
medicine.disease_cause
Pathology and Forensic Medicine
Frameshift mutation
Fusion gene
03 medical and health sciences
0302 clinical medicine
medicine
Humans
Ovarian Neoplasms
Mutation
Endometrial stromal sarcoma
High-Throughput Nucleotide Sequencing
Obstetrics and Gynecology
Middle Aged
medicine.disease
030104 developmental biology
medicine.anatomical_structure
030220 oncology & carcinogenesis
Immunohistochemistry
Female
Sarcoma
Subjects
Details
- ISSN :
- 02771691
- Volume :
- 38
- Database :
- OpenAIRE
- Journal :
- International Journal of Gynecological Pathology
- Accession number :
- edsair.doi.dedup.....104ac4ac9d20ed15043c4a029a6c2a3e