<scp>NUT</scp> carcinoma and thoracic <scp>SMARCA4</scp>‐deficient undifferentiated tumour: facts and controversies

Yoshida, Akihiko

doi:10.1111/his.15063

Cited by 6 publications

(4 citation statements)

References 107 publications

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“…However, patients with NUT carcinoma usually do not have a significant history of smoking, and there is no evidence that patients are often accompanied by emphysema. Immunohistochemical detection of NUT protein has a high sensitivity and specificity for the diagnosis of this disease, so relatively extensive immunohistochemical testing is still needed to aid in its differential diagnosis from SMARCA4-UT ( 34 , 35 ).…”

Section: Discussionmentioning

confidence: 99%

Imaging performance of thoracic SMARCA4-deficient undifferentiated tumor: a case report and literature review

Yang,

Wang

2024

Transl Lung Cancer Res

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Background SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a class of high-grade malignant tumors that has only been described in recent years, with an undifferentiated or rhabdoid morphology and genetic deletion of SMARCA4 ( BRG1 ), a subunit of the BRG1 -associated factors (BAFs) chromatin remodeling complex. It is a rare tumor type that occurs in young to middle-aged men and usually presents as a compressive thoracic mass with rapid progression and poor prognosis. However, much remains unknown about the clinical and imaging manifestations of the disease. Case Description Herein, we report a 51-year-old man who came to our hospital with multiple enlarged lymph nodes in the chest after a computed tomography (CT) examination at another hospital. The patient underwent conventional ultrasound (US), contrast-enhanced ultrasound (CEUS), magnetic resonance imaging (MRI), 18 F-fluorodeoxyglucose positron emission tomography/CT (PET/CT), and finally confirmed the diagnosis of SMARCA4-UT by US-guided puncture biopsy. After symptomatic management, the patient was transferred to another hospital and we performed a short-term follow-up. Conclusions During this procedure, we obtained a series of relevant clinical and imaging data, especially US and CEUS images, which were described for the first time, offering valuable imaging information that will contribute to the clinical diagnosis of this disease to a certain extent. Moreover, this case highlights the efficacy of CEUS in identifying internal necrosis within tumors and lymph nodes, thereby improving the success rate of obtaining tumor tissue for pathological diagnosis. These findings substantiate the practical utility of US and CEUS in the context of mediastinal SMARCA4-UT, emphasizing their potential for widespread clinical adoption.

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Section: Discussionmentioning

confidence: 99%

Imaging performance of thoracic SMARCA4-deficient undifferentiated tumor: a case report and literature review

Yang,

Wang

2024

Transl Lung Cancer Res

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“…On the other hand, the overexpression of stem cell markers such as sex-determining region Y-Box 2 (SOX2), sal-like protein 4 (SALL4), and CD34 is frequent, as is a loss of caudin-4 expression [ 60 ]. SMARCA4-UT is usually negative for desmin, nuclear protein in testis (NUT), S100, and WT-1 [ 58 ], but the positive expression of vimentin and synaptophysin has been reported [ 38 ]. Focal and weak CD138, CD99, and CD30 expression have also been described [ 61 ].…”

Section: Clinical Pathological Featuresmentioning

confidence: 99%

“…Reisman et al first described the involvement of B deficiency in lung cancer development [37]. About 10% of lung cancer patients h SMARCA4 mutations, with different clinical features depending on the kind of muta In particular, patients with SMARCA4 homozygous deletions or truncating mutation prone to early relapse and poor prognoses [38]. BRG1 regulates the expression of se oncogenes and tumor suppressors.…”

Section: Role Of Smarca4 In Cancer Developmentmentioning

confidence: 99%

Treatment of Thoracic SMARCA4-Deficient Undifferentiated Tumors: Where We Are and Where We Will Go

Longo,

Catino,

Montrone

et al. 2024

IJMS

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Recently, the fifth edition of the WHO classification recognized the thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) as a separate entity from conventional non-small cell lung cancer with SMARCA4 deficiency because of the different clinicopathological characteristics of these two diseases. SMARCA4-UT mainly occurs in young to middle-aged adults and involves a large mass compressing the tissues surrounding the mediastinum and lung parenchyma. Unfortunately, SMARCA4-UT shows a high probability of recurrence after upfront surgery as well as radiotherapy resistance; moreover, chemotherapy has low efficacy. Moreover, given the recent classification of SMARCA4-UT, no data concerning specific clinical trials are currently available. However, several case reports show immunotherapy efficacy in patients with this disease not only in a metastatic setting but also in a neoadjuvant manner, supporting the development of clinical trials. In addition, preclinical data and initial clinical experiences suggest that inhibiting pathways such as CDK4/6, AURKA, ATR, and EZH2 may be a promising therapeutic approach to SMARCA4-UT.

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“…Rearrangements of are not limited to NUT carcinomas and have been described in poromas and porocarcinomas [143], embryonal tumors of the central nervous system [144], and undifferentiated sarcomas [145]. Sarcomas with NUTM1 rearrangements often show fusions involving the MAX family genes or CIC [146,147].…”

Section: Nutm1-rearranged Colorectal Sarcomamentioning

confidence: 99%

Mesenchymal Tumors of the Gastrointestinal Tract—Beyond GIST—A Review

Gama,

Oliveira

2024

Gastrointestinal Disorders

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Sarcomas are rare lesions and encompass a wide variety of entities, depending on their nature. In recent years new entities have been described and new knowledge, especially that provided by molecular studies, has been increasing. This makes it very difficult to be updated with all the described entities, since only some of the centers have the desired ancillary studies for the correct diagnosis. Some lesions are extremely rare and may appear once or twice during the lifetime of a general pathologist. When we refer to sarcomas of the gastrointestinal tract, the gastrointestinal stromal tumor (GIST) is the most well-known lesion that the pathologist will most frequently find in daily practice. This paper aims to comprehensively review the sarcomas associated with the gastrointestinal tract, emphasizing histopathology and going beyond GIST. This review highlights the histopathology of rare types of sarcomas so it may increase awareness of common and rare lesions, prompting an easy and effective diagnosis.

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NUT carcinoma and thoracic SMARCA4‐deficient undifferentiated tumour: facts and controversies

Cited by 6 publications

References 107 publications

Imaging performance of thoracic SMARCA4-deficient undifferentiated tumor: a case report and literature review

Imaging performance of thoracic SMARCA4-deficient undifferentiated tumor: a case report and literature review

Treatment of Thoracic SMARCA4-Deficient Undifferentiated Tumors: Where We Are and Where We Will Go

Mesenchymal Tumors of the Gastrointestinal Tract—Beyond GIST—A Review

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