Notable Response of SMARCA4-Deficient Undifferentiated Uterine Sarcoma to Palliative Radiation Therapy

Kurokawa, Mariko; Shimizuguchi, T.; Ito, Kei; Takao, Maki; Motoi, Toru; Taguchi, Ayumi; Yasugi, Toshiharu; Kiura, Katsuyuki

doi:10.1016/j.adro.2021.100728

Cited by 4 publications

(1 citation statement)

References 17 publications

(30 reference statements)

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“…The monomorphic, undifferentiated histological presentation of cancers at various sites is connected to the inactivation of SMARCA4 and other SWI/SNF complex components. Numerous cancers, such as thoracic sarcoma, nonsmall cell lung cancer, malignant ovarian transverse sarcoma, and undifferentiated sarcoma of the uterus, have been discovered to be genetically predisposed to SMARCA4 de ciency [4]. The clinicopathological characteristics of the tumors in this category have been reported to be similar, including: (1) transverse stripe-like morphology or undifferentiated round cell; and (2) very aggressive malignant behavior with a rather poor clinical course.…”

Section: Introductionmentioning

confidence: 99%

SMARCA4-deficient dedifferentiated endometrioid carcinoma

Huang

Chen

Pan

et al. 2022

Preprint

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Background SMARCA4-deficient, dedifferentiated endometrioid carcinoma （SDDEC）with distinct rhabdoid cells is a rare uterine malignancy. A 58-year-old case was presented.The undifferentiated carcinoma component was 90% and filled with rhabdoid cells, which is easily mistaken for SMARCA4-deficient undifferentiated uterine sarcoma (SDUS). In contrast to earlier findings, the undifferentiated carcinoma component's MMR status was distinct from that of endometrioid adenocarcinoma. We discuss the clinicopathological characteristics, the clinical course of treatment, and a literature review. Case presentation The patient was 58 years old and admitted with postmenopausal vaginal bleeding and lower abdominal pain. An MRI revealed a significant uterine tumor and an ambiguous sigmoid colon boundary. A cytoreductive procedure was carried out. A CT scan performed two weeks after surgery revealed liver metastases and new, enlarged lymph nodes in the mediastinum. Anti-PD-1 immunotherapy was tested. One month after the procedure, the patient died. The final pathological diagnosis was SMARCA4-deficient dedifferentiated endometrial carcinoma. SMARCA4 loss was only present in the undifferentiated carcinoma, which manifested as MMRp. As well, the endometrioid adenocarcinoma component had intact SMARCB1 and SMARCA4 expression, which manifested as MMRd. Conclusion Mutations in SMARCA4 result in clinically hyperaggressive malignant rhabdomyoblastic tumors.Future research will focus heavily on multimodal therapy, which combines surgical tumor removal, postoperative chemotherapy, radiation, and immunotherapy, for SDDEC.

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Section: Introductionmentioning

confidence: 99%

SMARCA4-deficient dedifferentiated endometrioid carcinoma

Huang

Chen

Pan

et al. 2022

Preprint

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SMARCA4-deficient uterine tumors in young women: response to immune checkpoint inhibitors

Suzui,

Taki,

Kitamura

et al. 2024

Int Canc Conf J

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SMARCA4-Deficient Undifferentiated Tumor of the Esophagus: Diagnostic Pitfalls in Immunohistochemical Profiles

Chakrabarti,

Lin,

Wang

et al. 2024

Int J Surg Pathol

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SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) are a newly described entity and are typically seen in the thoracic cavity. However, these tumors have been described in other body sites, including the esophagus. These tumors are rare, aggressive neoplasms, characterized by the loss of protein product of SMARCA4 (Brahma-related gene-1) and the preservation of INI1 (SMARCB1) expression. Here, we present two tumors of SMARCA4-UT of the esophagus with its microscopic appearance and immunohistochemical profile. We also include a literature review of SMARCA4-deficient tumors of the tubular gastrointestinal tract with their immunohistochemical and mismatch repair profiles for each specimen. Due to its non-specific histologic appearance and variable staining in expanded immunohistochemical panels, this tumor frequently overlaps with other tumor types, making the diagnosis of SMARCA4-UT challenging. These tumors are often associated with intestinal metaplasia of the esophagus and are thought to represent a high-grade undifferentiated transformation of a conventional esophageal adenocarcinoma. These tumors are typically associated with poor clinical outcomes and have poor response to conventional therapies. Currently, there are no standard guidelines for treatment of these tumors; however, palliative radiotherapy and systemic chemotherapy may provide benefit. More recently, immunotherapy and novel therapeutic targets have shown some promise for these patients.

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Notable Response of SMARCA4-Deficient Undifferentiated Uterine Sarcoma to Palliative Radiation Therapy

Cited by 4 publications

References 17 publications

SMARCA4-deficient dedifferentiated endometrioid carcinoma

SMARCA4-deficient dedifferentiated endometrioid carcinoma

SMARCA4-deficient uterine tumors in young women: response to immune checkpoint inhibitors

SMARCA4-Deficient Undifferentiated Tumor of the Esophagus: Diagnostic Pitfalls in Immunohistochemical Profiles

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