SMARCA4-deficient uterine sarcoma: A case report and a concise review

Valeshabad, Ali Kord; Eppurath, Atul; Drammeh, Hamidou; Younes, Ismail Elbaz

doi:10.1016/j.crwh.2020.e00231

Cited by 7 publications

(8 citation statements)

References 25 publications

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“…The sarcomatous component stained positive for desmin and vimentin and was negative for pancytokeratin. The tumor cells did not show loss of BRG1 (SMARCA4) immunohistochemical stain, supporting the above diagnosis [9]. The follow-up postoperative positron emission tomography-CT (PET-CT) showed new metastases in the head, chest, and abdomen, and the decision was made to start the patient on immunotherapy by pembrolizumab and lenvatinib.…”

Section: Case Reportsupporting

confidence: 57%

Uterine Carcinosarcoma: A Case Report and Literature Review

Valeshabad

Rabiee

Younes

2020

Case Reports in Obstetrics and Gynecology

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Uterine carcinosarcomas are rare and extremely aggressive undifferentiated carcinomas which include both carcinomatous and sarcomatous elements. A 52-year-old female presented with heavy irregular menstrual bleeding for several years and new right elbow pain and swelling. Ultrasound and computed tomography showed a large uterine mass with regional and distant metastatic lymphadenopathy and suspicious findings of osseous metastasis to the right elbow. A biopsy confirmed uterine carcinosarcoma, and the patient underwent chemotherapy and then surgical resection of the uterine mass with palliative radiotherapy of the right elbow. The postoperative imaging showed new metastasis, and the patient was scheduled to start on immunotherapy. Considering the highly invasive nature of uterine carcinosarcomas, timely detection of this cancer using characteristic imaging and pathology findings is of extreme importance to improve the patient’s survival.

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Section: Case Reportsupporting

confidence: 57%

Uterine Carcinosarcoma: A Case Report and Literature Review

Valeshabad

Rabiee

Younes

2020

Case Reports in Obstetrics and Gynecology

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“…At present, there are less than 30 cases of SDUS worldwide. The average age of patients is 36 years, which is much younger than that of patients with undifferentiated endometrial cancer (average 61 years) 1 , but slightly older than that of patients with small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) (average 29 years) 5 . Since SDUS is highly invasive and has no established treatment scheme at present, despite active surgical interventions, the prognosis is extremely poor with a median survival time of only 9 months 6 .…”

Section: Introductionmentioning

confidence: 97%

“…Uterine sarcomas account for 3-5% of all uterus tumours with an incidence rate of 1.55-1.95 per 100,000 women per year 1 . The inactivation mutation of the SMARCA4 gene in this sarcoma was rst discovered and proposed by Kolin et al in 2018 2 .SDUS takes SMARCA4 as the main driving gene and shares a similar morphology along with a low tumor mutation burden 3 .…”

Section: Introductionmentioning

confidence: 99%

SMARCA4-deficient undifferentiated uterine sarcoma: A Case Report and Literature Review

Fan

Gao

Hou

et al. 2022

Preprint

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SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) is a highly invasive single-gene malignant tumour caused by mutations in the SMARCA4 gene. SDUS has a poor prognosis and has no established treatment scheme at present. What's more, there is no relevant research on the role of immune microenvironment analysis in SDUS worldwide. Here, we report a case of SDUS that combined examinations via morphology, immunohistochemistry, and molecular detection and analysed the immune microenvironment. Therefore, our report will help in the diagnostic awareness of SDUS.

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“…Uterine sarcomas account for 3–5% of all uterine tumors with an incidence rate of 1.55–1.95 per 100,000 women per year [ 1 ]. The inactivation mutation of the SMARCA4 gene in this sarcoma was first discovered and proposed by Kolin et al in 2018 2 .…”

Section: Introductionmentioning

confidence: 99%

Pathological characteristics and immune microenvironment of SMARCA4-deficient undifferentiated uterine sarcoma

et al. 2023

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SMARCA4-deficient undifferentiated uterine sarcoma (SDUS) is a highly invasive single-gene malignant tumor caused by mutations in the SMARCA4 gene. SDUS has a poor prognosis, with no established treatment strategy at present. Further, there is a lack of relevant research on the role of the immune microenvironment in SDUS worldwide. Here, we report a case of SDUS that was diagnosed and analysed using morphological, immunohistochemical, and molecular detection techniques, along with the analysis of the immune microenvironment. By immunohistochemistry, the tumor cells showed retained INI-1 expression, focal CD10 expression, and loss of BRG1, CK-pan, synaptophysin, desmin, and ER expression. Further, some of the immune cells expressing CD3 and CD8 had infiltrated into the SDUS, but no PD-L1 expression was detected. The multiple immunofluorescent staining results showed that a proportion of the immune cells and SDUS cells expressed CD8/CD68/PD-1/PD-L1. Therefore, our report will help in the diagnostic awareness of SDUS.

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SMARCA4-deficient uterine sarcoma: A case report and a concise review

Cited by 7 publications

References 25 publications

Uterine Carcinosarcoma: A Case Report and Literature Review

Uterine Carcinosarcoma: A Case Report and Literature Review

SMARCA4-deficient undifferentiated uterine sarcoma: A Case Report and Literature Review

Pathological characteristics and immune microenvironment of SMARCA4-deficient undifferentiated uterine sarcoma

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