SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma

Khanchel, Fatma; Hedhili, Raweh; Zenaidi, Hakim; Helal, Imed; Yahmadi, Abdelwahed; Néji, Hend Ben; Ksontini, Feryel Letaief; Brahim, Ehsen Ben; Jouini, Raja; Chadli, A

doi:10.1007/s11748-021-01627-z

Cited by 10 publications

(13 citation statements)

References 11 publications

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“…Patients were strongly associated with smoking and were predominantly male, and our cases t these demographic characteristics. SMARCA4-UT is an aggressive tumor with a poor prognosis, often metastasizing to the lymph nodes, adrenal glands, brain, and so on [11][12] . The patient's symptoms are one of the most interesting aspects of this case and an important diagnostic challenge in the early stages.…”

Section: Discussionmentioning

confidence: 99%

SMARCA4-deficient undifferentiated tumor presenting with fever and polyarthralgia: A case report

Cheng

Sun

et al. 2023

Preprint

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Background: SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare tumor that is independent of lung cancer and is classified as undifferentiated carcinoma of epithelial tumors according to the 2021 WHO classification of thoracic tumors. Loss of BRG1 expression due to SMARCA2 and SMARCA4 gene defects is a possible pathogenic mechanism. The pathological features are mainly nest-like rhabdoid cells with necrosis. Currently, there is a lack of well-recognized and convincing regimens for the treatment of SMARCA4-UT. Because the lesions are mainly located in the mediastinum and lung, patients can present with thoracic-related symptoms. We report the case of a middle-aged male patient with SMARCA4-UT who was admitted to the hospital with polyarthralgia and fever and lacked typical thoracic-related symptoms. This may be the first case report of SMARCA4-UT with fever and polyarthralgia as the initial symptoms, and its diagnostic idea and case characteristics are worthy of consideration and reference. Case Description: A 57-year-old male fisherman with a long history of smoking and emphysema was initially admitted to the Department of Rheumatology and Immunology because of fever and polyarthralgia as the initial symptoms. The imaging examination suggested a mediastinal mass. With the gradual advancement of the examination, the riddle of fever and polyarthralgia was gradually revealed. After symptom control with steroids, he underwent thoracoscopic surgery for mediastinal lymph node biopsy, and SMARCA4-UT was finally diagnosed. He was evaluated and transferred to the oncology department for one cycle of postoperative adjuvant chemotherapy, and he was discharged with good symptom control after discharge.We lost follow-ups of patients after they were discharged. Conclusions: Although fever and multiple arthralgias are not uncommon in neoplastic lesions, as atypical initial symptoms of rare tumors, clinicians should be aware of this when diagnosing tumors and not limited to SMARCA4-UT. In addition, the pathological and imaging features of SMARCA4-UT should be fully understood.

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Section: Discussionmentioning

confidence: 99%

SMARCA4-deficient undifferentiated tumor presenting with fever and polyarthralgia: A case report

Cheng

Sun

et al. 2023

Preprint

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“…In addition, Leckey et al[ 26 ] found that p40 and p63 were rarely expressed in SMARCA4-UT. The immunohistochemical results of SMARCA4-UT are shown in Table 1 [ 5 , 9 , 14 , 15 , 17 , 23 – 26 , 28 – 30 ].…”

Section: Introductionmentioning

confidence: 99%

“…When DNA is tightly packed, gene expression is inhibited. Moreover, SWI/SNF complexes recruit histone deacetylases (HDACs) to remove activated acetyl markers from histone tails, thereby inhibiting tumor cell cycle [ 28 , 32 , 35 ]. Not only that, part of the protein encoded by the mutated gene may be the regulatory factor of histone PTMs, tumor suppressor genes may be silenced by changes in PTMs level, and oncogenes may be activated by changes in PTMs level [ 35 ].…”

Section: Introductionmentioning

confidence: 99%

“…But whether these epigenetic changes occur in SMARCA4-UT is not clear [ 31 ]. In conclusion, disruption of SWI/SNF function and deletion of SMARCA4 genes can lead to changes in chromatin structure that affect gene expression and disrupt differentiation procedures, exhibiting "epigenetic instability" that ultimately leads to cancer formation [ 28 ]. Moreover, in cancer, genetic and epigenetic processes interact, such as gene mutations resulting from changes in histone modification sites and increased mutation rates when chromatin structure is altered [ 35 ].…”

Section: Introductionmentioning

confidence: 99%

“…Compared with other tumors, large cell lymphoma can be ruled out by negative expression of lymphoid markers. Negative S-100 immunohistochemistry can also rule out malignant peripheral nerve sheath tumors and melanoma [ 28 ]. The negative expression of the epithelial markers CK-AE1/AE3, pan-CK, and EMA can exclude anaplastic carcinoma [ 28 ].…”

Section: Introductionmentioning

confidence: 99%

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Thoracic SMARCA4-deficient undifferentiated tumor

Jiang¹,

Chen²,

Gong³

et al. 2023

Discov Onc

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Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a recently described smoking-related malignancy. The pathogenesis of SMARCA4-UT is the mutational inactivation and loss of expression of a subunit encoding the mammalian switch/sucrose nonfermenting ATPase-dependent chromatin remodeling complex (which can be mobilized using adenosine triphosphate hydrolysis nucleosomes and regulate other cellular processes including development, differentiation, proliferation, and apoptosis), in particular SMARCA4 and SMARCA2. The dynamic activity of this complex plays an important role in regulating the activation and repression of gene expression programs. SMARCA4-UT exhibits morphological features similar to the malignant rhabdoid tumor (MRT), small cell carcinoma of the ovary of the hypercalcemic type (SCCOHT), and INI1-deficient tumor, but SMARCA4-UT differs from SCCOHT and MRT from a genomic perspective. SMARCA4-UT mainly involves the mediastinum and lung parenchyma, and appears as a large infiltrative mass that easily compresses surrounding tissues. At present, chemotherapy is a common treatment, but its efficacy is not clear. Moreover, the inhibitor of the enhancer of zeste homolog 2 showed promising efficacy in some patients with SMARCA4-UT. This study aimed to review the clinical characteristics, diagnosis, treatment, and prognosis of SMARCA4-UT.

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Thoracic SMARCA4-deficient undifferentiated tumors mimicking inflammatory lesions

Ma,

Cheng,

Song

et al. 2024

Asian Journal of Surgery

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SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma

Cited by 10 publications

References 11 publications

SMARCA4-deficient undifferentiated tumor presenting with fever and polyarthralgia: A case report

SMARCA4-deficient undifferentiated tumor presenting with fever and polyarthralgia: A case report

Thoracic SMARCA4-deficient undifferentiated tumor

Thoracic SMARCA4-deficient undifferentiated tumors mimicking inflammatory lesions

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