High-grade uterine sarcoma with osteosarcomatous differentiation arising from a MED12-mutated leiomyoma, a case report.
MED12 L36R mutation
uterine leiomyoma
uterine osteosarcoma
Journal
Pathology international
ISSN: 1440-1827
Titre abrégé: Pathol Int
Pays: Australia
ID NLM: 9431380
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
25
08
2020
accepted:
26
12
2020
pubmed:
15
1
2021
medline:
3
11
2021
entrez:
14
1
2021
Statut:
ppublish
Résumé
Uterine osteosarcoma has been reported, but it is an extremely rare tumor with highly aggressive behavior and poor prognosis. The pathogenesis of uterine osteosarcoma is not fully understood. Herein, we report on a high-grade uterine sarcoma with focal osteosarcomatous differentiation that developed from a long-standing MED12-mutated leiomyoma. A 47-year-old nulligravida woman, with known uterine leiomyoma presented with abdominal pain and distention. Imaging analyses revealed a tumor with a large cystic area in the uterine corpus and multiple metastases in intrapelvic and paraaortic lymph nodes, left ovary and left lung. With a clinical diagnosis of uterine sarcoma the patient underwent abdominal total hysterectomy, bilateral salpingo-oophorectomy, partial omentectomy and removal of the left obturator lymph node. Despite postoperative chemotherapy and radiation therapy, the tumor progressed rapidly. She died 18 weeks after the surgery. Histopathologic examination identified a high-grade pleomorphic sarcoma in which focal osteoid production was observed. This high-grade sarcoma with focal osteosarcomatous differentiation was located within the uterine leiomyoma, and Sanger sequencing showed the identical MED12 L36R mutation in both the osteosarcomatous and leiomyomatous components supporting the shared origin of these two components. We, therefore, concluded that the high-grade sarcoma with osteosarcomatous differentiation arose from the transformation of the precedent leiomyoma.
Substances chimiques
Biomarkers, Tumor
0
MED12 protein, human
0
Mediator Complex
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
199-203Informations de copyright
© 2021 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.
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