Articles with "smarca4 deficient" as a keyword



Fine‐needle aspiration and effusion cytology of thoracic SMARCA4–deficient undifferentiated tumor and SMARCA4‐deficient non–small cell lung carcinoma: A multi‐institutional experience with 27 patients

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Published in 2024 at "Cancer Cytopathology"

DOI: 10.1002/cncy.22919

Abstract: Thoracic switch/sucrose nonfermentable–related, matrix‐associated, actin‐dependent regulator of chromatin, subfamily A, member 4 (SMARCA4)–deficient (SD) malignancies, including SD undifferentiated tumor (SD‐UT) and SD non–small cell lung carcinoma (SD‐NSCLC), have been recently described. The cytologic features of… read more here.

Keywords: non small; cell lung; small cell; smarca4 deficient ... See more keywords

A BAFfling liver aspirate: Metastatic high grade SMARCA4 deficient undifferentiated gastroesophageal junction carcinoma masquerading as a hematolymphoid malignancy

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Published in 2019 at "Diagnostic Cytopathology"

DOI: 10.1002/dc.24174

Abstract: Undifferentiated malignant SMARCA4‐deficient neoplasms are rare, recently characterized, high grade, potentially lethal malignancies. Such tumors are characterized by the loss of BRG1 encoded by SMARCA4, a key component of the Switch/Sucrose Non‐Fermenting (SWI/SNF) chromatin remodeling… read more here.

Keywords: diagnosis; high grade; smarca4 deficient; deficient ... See more keywords

Usefulness of cell block examination for the cytological diagnosis of thoracic SMARCA4‐deficient undifferentiated tumor: A case report

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Published in 2023 at "Diagnostic Cytopathology"

DOI: 10.1002/dc.25116

Abstract: SMARCA4‐deficient undifferentiated tumor (SMARCA4‐UT) is a high‐grade malignant neoplasm showing undifferentiated or rhabdoid morphology that significantly involves the thorax of adults. It has been reported as SMARCA4‐deficient thoracic sarcoma or SMARCA4‐deficient non‐small cell lung carcinoma… read more here.

Keywords: cell; diagnosis; smarca4 deficient; cell block ... See more keywords
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Update on genetically defined lung neoplasms: NUT carcinoma and thoracic SMARCA4-deficient undifferentiated tumors

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Published in 2021 at "Virchows Archiv"

DOI: 10.1007/s00428-020-03011-3

Abstract: NUT carcinoma, also known as NUT midline carcinoma, is an aggressive malignancy mainly affecting the midline structures of younger patients and almost invariably leading to death within a few months of the diagnosis. Morphologically, NUT… read more here.

Keywords: thoracic smarca4; carcinoma; undifferentiated tumors; nut carcinoma ... See more keywords

Alternating chemotherapy with VDC-IE as effective first-line treatment in a patient with SMARCA4-deficient undifferentiated tumor

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Published in 2024 at "memo - Magazine of European Medical Oncology"

DOI: 10.1007/s12254-024-00973-x

Abstract: SMARCA4-deficient undifferentiated tumor (SMARCA4-UTs) is an extremely rare and aggressive entity where no consensus on systemic treatment exists to date. We report the case of a 43-year-old woman with thoracic SMARCA4-UT who presented with rapid… read more here.

Keywords: smarca4 deficient; deficient undifferentiated; undifferentiated tumor;
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SMARCA4-deficient uterine sarcoma: A case report and a concise review

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Published in 2020 at "Case Reports in Women's Health"

DOI: 10.1016/j.crwh.2020.e00231

Abstract: Background SMARCA4-deficient uterine sarcoma (SDUS) is a newly discovered undifferentiated uterine mesenchymal malignancy which has loss of expression of SMARCA4. Case A 46-year-old woman presented with heavy irregular vaginal bleeding over the previous 5 months.… read more here.

Keywords: sarcoma case; uterine sarcoma; case; smarca4 deficient ... See more keywords

SMARCA4-deficient thoracic sarcoma: report of a case and insights into how to reach the diagnosis using limited samples and resources.

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Published in 2017 at "Human pathology"

DOI: 10.1016/j.humpath.2017.05.024

Abstract: SMARCA4-deficient thoracic sarcoma is a recently proposed new entity of soft tissue sarcomas with an undifferentiated round cell morphology that is diagnostically challenging. Here we report a case of this tumor where the diagnosis was… read more here.

Keywords: deficient thoracic; diagnosis; limited samples; case ... See more keywords

Patients with SMARCA4-deficient thoracic sarcoma and severe skeletal-related events.

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Published in 2019 at "Lung cancer"

DOI: 10.1016/j.lungcan.2019.03.029

Abstract: OBJECTIVES SMARCA4-deficient thoracic sarcoma(DTS) is a recently identified new entity of thoracic malignancies characterized by inactivation of SMARCA4. Patients with SMARCA4-DTS have a particulary aggresive clinical course and no effective treatments. However, the detailed clinical… read more here.

Keywords: deficient thoracic; smarca4; patients smarca4; thoracic sarcoma ... See more keywords

A case of radio-insensitive SMARCA4-deficient thoracic undifferentiated carcinoma with severe right heart failure

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Published in 2021 at "Respiratory Medicine Case Reports"

DOI: 10.1016/j.rmcr.2021.101364

Abstract: SMARCA4-deficient thoracic sarcomatoid tumors were characterized by inactivating mutations of SMARCA4 and often found in the chest of young and middle-aged males with a smoking history. Recently, SMARCA4-deficient thoracic sarcomatoid tumors were reported to represent… read more here.

Keywords: deficient thoracic; right heart; thoracic; severe right ... See more keywords

SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma

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Published in 2018 at "Modern Pathology"

DOI: 10.1038/s41379-018-0049-z

Abstract: Small cell carcinoma of the ovary, hypercalcemic type is a rare, aggressive malignancy which usually occurs in young women and is characterized by mutations in SMARCA4, with few other alterations. We recently encountered uterine tumors… read more here.

Keywords: sarcoma; carcinoma; uterine sarcoma; cell ... See more keywords

PARP inhibition-associated heterochromatin confers increased DNA replication stress and vulnerability to ATR inhibition in SMARCA4-deficient cells

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Published in 2025 at "Cell Death Discovery"

DOI: 10.1038/s41420-025-02306-1

Abstract: DNA replication stress (RS), a prevalent feature of various malignancies, arises from both genetic mutations and genotoxic exposure. Elevated RS levels increase the vulnerability of cancer cells to ataxia telangiectasia and Rad3-related kinase inhibitors (ATRis).… read more here.

Keywords: replication stress; deficient cells; inhibition; smarca4 deficient ... See more keywords