Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis
Abstract Objective This report presents a rare case involving an extreme epithelial-to-mesenchymal transition, in which a specific type of sarcoma developed heterochronically as a recurrence of endometrioid carcinoma. Case presentation A female in her 50’s presented with abnormal genital bleeding, a...
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| Format: | Article |
| Language: | English |
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BMC
2025-06-01
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| Series: | Diagnostic Pathology |
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| Online Access: | https://doi.org/10.1186/s13000-025-01669-4 |
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| author | Yuriko Higashi Mika Mizuno Ikumi Kitazono Toshiaki Akahane Takashi Tasaki Hirotsugu Noguchi Masanori Hisaoka Hiroaki Kobayashi Akihide Tanimoto |
| author_facet | Yuriko Higashi Mika Mizuno Ikumi Kitazono Toshiaki Akahane Takashi Tasaki Hirotsugu Noguchi Masanori Hisaoka Hiroaki Kobayashi Akihide Tanimoto |
| author_sort | Yuriko Higashi |
| collection | DOAJ |
| description | Abstract Objective This report presents a rare case involving an extreme epithelial-to-mesenchymal transition, in which a specific type of sarcoma developed heterochronically as a recurrence of endometrioid carcinoma. Case presentation A female in her 50’s presented with abnormal genital bleeding, and an endometrial biopsy revealed endometrioid carcinoma. Following the diagnosis of stage IA endometrioid carcinoma according to the 2008 classification system of the International Federation of Gynecology and Obstetrics, a robot-assisted simple hysterectomy, bilateral salpingo-oophorectomy, and sentinel lymph node navigation surgery were performed. Six months postoperatively, a tumor mass developed in the pelvis. A transrectal needle biopsy revealed spindle cell proliferation, and pelvic tumor resection was conducted for diagnostic therapy. The patient received no adjuvant chemotherapy or radiotherapy after the second surgery and remained free of tumor recurrence for 8 months. The resected yellowish solid tumor mass, measuring 16 × 12 × 9 cm, exhibited hemorrhage, necrosis, and cystic degeneration and was composed of fascicular proliferation of spindle tumor cells showing nuclear pleomorphism and frequent mitotic figures within a myxoid and inflammatory stroma. No epithelial component or organoid patterns were observed. Immunohistochemically, the tumor cells were positive for factor XIIIa, CD10, and cyclin D1, but negative for keratins (AE1/AE3 and CAM5.2) and other specific markers, supporting a diagnosis of high-grade myxoinflammatory fibroblastic sarcoma (MIFS). Conclusion Genomic analysis revealed identical mutations in PTEN, PIK3R1, CDKN2 A, and TP53 in both the primary uterine endometrioid carcinoma and heterochronic pelvic MIFS. An integrative approach involving histology, immunohistochemistry, and genomic analysis is critical for elucidating the pathogenesis of rare pelvic and uterine tumors. |
| format | Article |
| id | doaj-art-bdcee54e8d464ee5a376c781c2ca58e1 |
| institution | Kabale University |
| issn | 1746-1596 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj-art-bdcee54e8d464ee5a376c781c2ca58e12025-08-20T03:25:12ZengBMCDiagnostic Pathology1746-15962025-06-012011710.1186/s13000-025-01669-4Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysisYuriko Higashi0Mika Mizuno1Ikumi Kitazono2Toshiaki Akahane3Takashi Tasaki4Hirotsugu Noguchi5Masanori Hisaoka6Hiroaki Kobayashi7Akihide Tanimoto8Department of Pathology, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Obstetrics and Gynecology, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Surgical Pathology, Kagoshima University HospitalDepartment of Pathology, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Pathology, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Pathology, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Pathology and Oncology, University of Occupational and Environmental HealthDepartment of Obstetrics and Gynecology, Kagoshima University Graduate School of Medical and Dental SciencesDepartment of Pathology, Kagoshima University Graduate School of Medical and Dental SciencesAbstract Objective This report presents a rare case involving an extreme epithelial-to-mesenchymal transition, in which a specific type of sarcoma developed heterochronically as a recurrence of endometrioid carcinoma. Case presentation A female in her 50’s presented with abnormal genital bleeding, and an endometrial biopsy revealed endometrioid carcinoma. Following the diagnosis of stage IA endometrioid carcinoma according to the 2008 classification system of the International Federation of Gynecology and Obstetrics, a robot-assisted simple hysterectomy, bilateral salpingo-oophorectomy, and sentinel lymph node navigation surgery were performed. Six months postoperatively, a tumor mass developed in the pelvis. A transrectal needle biopsy revealed spindle cell proliferation, and pelvic tumor resection was conducted for diagnostic therapy. The patient received no adjuvant chemotherapy or radiotherapy after the second surgery and remained free of tumor recurrence for 8 months. The resected yellowish solid tumor mass, measuring 16 × 12 × 9 cm, exhibited hemorrhage, necrosis, and cystic degeneration and was composed of fascicular proliferation of spindle tumor cells showing nuclear pleomorphism and frequent mitotic figures within a myxoid and inflammatory stroma. No epithelial component or organoid patterns were observed. Immunohistochemically, the tumor cells were positive for factor XIIIa, CD10, and cyclin D1, but negative for keratins (AE1/AE3 and CAM5.2) and other specific markers, supporting a diagnosis of high-grade myxoinflammatory fibroblastic sarcoma (MIFS). Conclusion Genomic analysis revealed identical mutations in PTEN, PIK3R1, CDKN2 A, and TP53 in both the primary uterine endometrioid carcinoma and heterochronic pelvic MIFS. An integrative approach involving histology, immunohistochemistry, and genomic analysis is critical for elucidating the pathogenesis of rare pelvic and uterine tumors.https://doi.org/10.1186/s13000-025-01669-4Endometrioid carcinomaPelvic sarcomaMyxoinflammatory fibroblastic sarcomaNext-generation sequencingGene mutationsEpithelial-to-mesenchymal transition |
| spellingShingle | Yuriko Higashi Mika Mizuno Ikumi Kitazono Toshiaki Akahane Takashi Tasaki Hirotsugu Noguchi Masanori Hisaoka Hiroaki Kobayashi Akihide Tanimoto Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis Diagnostic Pathology Endometrioid carcinoma Pelvic sarcoma Myxoinflammatory fibroblastic sarcoma Next-generation sequencing Gene mutations Epithelial-to-mesenchymal transition |
| title | Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis |
| title_full | Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis |
| title_fullStr | Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis |
| title_full_unstemmed | Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis |
| title_short | Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis |
| title_sort | heterochronic pelvic high grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations a rare case report with genomic analysis |
| topic | Endometrioid carcinoma Pelvic sarcoma Myxoinflammatory fibroblastic sarcoma Next-generation sequencing Gene mutations Epithelial-to-mesenchymal transition |
| url | https://doi.org/10.1186/s13000-025-01669-4 |
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