SMARCA4-deficient thoracic tumor detected by [18F]FDG PET/CT

Okazaki, Tsubasa; Yokoyama, Kota; Tsuchiya, Jyunichi; Honda, Takayuki; Ishikawa, Yuya; Kirimura, Susumu; Miyazaki, Yasunari; Tateishi, Ukihide

doi:10.1186/s41824-021-00102-5

Cited by 9 publications

(9 citation statements)

References 11 publications

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“…First-line median progression-free survival (PFS) was significantly higher for patients with ICI plus chemotherapy than those treated with only chemotherapy [23][24][25] as shown in Table 2. Sauter et al 24 described a case of 69-year-old woman with SMARCA4-dUT who was treated with only chemotherapy and radiotherapy but ultimately succumbed to the disease.…”

Section: Discussionmentioning

confidence: 99%

Chemotherapy and Immune Checkpoint Inhibitors in a Case of SMARCA4-dUT: A Case Report and Review of Literature

Pokhrel,

Yadav,

Manvar

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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SMARCA4-deficient undifferentiated tumors (SMARCA4-dUT) are infrequently occurring aggressive neoplasms found predominantly in young male smokers. These tumors are distinguished by the loss of expression of Brahma-related gene 1 (BRG1) due to a deactivating mutation of SMARCA4. Immunophenotype can be variable but characteristically lack the expression of BRG1. SMARCA4-dUT has a poor prognosis and generally progresses or recurs. The median survival is around 6 months. Here, we report a case of a 36-year-old male smoker who presents with multiple right-sided lung masses. The patient was found to have a loss of SMARAC4 and SMARCA2 along with the absence of markers of vascular, melanocytic, lymphoid, keratin, or myogenic origin. Tumor size was reduced significantly after 3 cycles of carboplatin and 1 cycle of pembrolizumab. From reviewing the literature and the clinical course in our case, we suggest combination chemotherapy plus immune checkpoint inhibitor (ICI) therapy to be the first choice of therapy for treating SMARCA4-dUT of lungs. Further research and studies are needed to evaluate the response to ICI therapy alone or combination therapy (chemotherapy plus ICI).

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Section: Discussionmentioning

confidence: 99%

Chemotherapy and Immune Checkpoint Inhibitors in a Case of SMARCA4-dUT: A Case Report and Review of Literature

Pokhrel,

Yadav,

Manvar

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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“…The 18F-FDG-PET/CT demonstrated a strong metabolic activity in both SMARCA4-dNSCLC (SUVmax 13.4 ± 3.2) and SMARCA4-dUT (SUVmax 11.7 ± 6.3) patients, indicating that these tumor types are highly aggressive. For solid mass with high SUVmax value, differential diagnosis should include SMARCA4 de cient tumor, SCLC, NSCLC, lymphoma and non-seminomatous germ cell tumor; thus, surgery should be performed after histological, mediastinal and systemic staging (Okazaki et al 2021).…”

Section: Discussionmentioning

confidence: 99%

Molecular, clinicopathological characteristics and surgical results of resectable SMARCA4- deficent thoracic tumors

Luo

Ding

Campisi

et al. 2022

Preprint

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PurposeSMARCA4 deficient thoracic tumors are rapid aggressive malignancies, often diagnosed at an advanced and inoperable stage. The value of pulmonary resection for resectable SMARCA4 deficient thoracic tumors are largely unknown. MethodsIn this study, we included 45 patients who received surgery for stage I-III SMARCA4 deficient tumors. We compared the molecular, clinicopathological characteristics and survival between SMARCA4-dNSCLC and SMARCA4-deficient undifferentiated tumor (SMARCA4-dUT) patients. ResultsThirty-four SMARCA4-dNSCLC and 11 SMARCA4-dUT patients were included in this study. Molecular profiles were available in 33 out of 45 patients. The most common mutated gene was TP53 (21, 64%), and followed by STK11(9, 27%), KRAS (5, 15%), FGFR1 (4, 12%) and ROS1 (4,12%). There were 3 patients harbored ALK mutation including 1 EML4-ALK rearrangement. There were 2 patients harbored EGFR rare site missense mutation. SMARCA4-dUT patients had significance worse PFS (HR=4.35 95%CI 1.77-10.71, p=0.001) and OS (HR=4.27, 95%CI 1.12-16.35, p=0.022) compared to SMARCA4-dNSCLC patients. SMARCA4-dUT histologic type, stage II/III, R1/2 resection and lymphovascular invasion were independent poor prognostic predictors for both PFS and OS. There were 8 patients received immunotherapy, the objective response rate was 50%. The SMARCA4-dNSCLC patient with ALK rearrangement was treated with crizotinib as second line therapy, and achieved stable disease for 9.7 months.ConclusionPatients with SMARCA4 deficient tumors have a high probability of early recurrence after surgery, except for stage I patients. Immunotherapy seems to be a valuable strategy to treat recurrence.

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“…2 A small number of previous studies have reported the use of 18 F-FDG PET/CT in thoracic SMARCA4-UT. 3,4 However, no study has investigated the usefulness of 68 Ga-DOTA-FAPI-04 PET/CT for the evaluation of thoracic SMARCA4-UT. Thoracic SMARCA4-UT is classified as an undifferentiated tumor of pulmonary epithelial origin in the World Health Organization classification.…”

Section: Figurementioning

confidence: 99%

“…It is an aggressive tumor that metastasizes rapidly 2. A small number of previous studies have reported the use of 18 F-FDG PET/CT in thoracic SMARCA4-UT 3,4. However, no study has investigated the usefulness of 68 Ga-DOTA-FAPI-04 PET/CT for the evaluation of thoracic SMARCA4-UT.…”

mentioning

confidence: 99%

68Ga-DOTA-FAPI-04 PET/CT in the Detection of Thoracic SMARCA4-Deficient Undifferentiated Tumor

Shen,

Yang,

2023

Clin Nucl Med

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Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare malignant disease. We present the case of a 56-year-old woman with thoracic SMARCA4-UT presenting as a mediastinal mass who underwent 68Ga-DOTA-FAPI-04 PET/CT imaging. Intense 68Ga-DOTA-FAPI-04 uptake was observed in the primary tumor and lymph node metastases. After 7 cycles of immune checkpoint inhibitor plus chemotherapy, the patient underwent mediastinal mass resection, and postoperative pathology confirmed a complete pathologic response. This case may provide valuable insights into the diagnosis and monitoring of the treatment response of thoracic SMARCA4-UT.

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SMARCA4-deficient thoracic tumor detected by [18F]FDG PET/CT

Cited by 9 publications

References 11 publications

Chemotherapy and Immune Checkpoint Inhibitors in a Case of SMARCA4-dUT: A Case Report and Review of Literature

Chemotherapy and Immune Checkpoint Inhibitors in a Case of SMARCA4-dUT: A Case Report and Review of Literature

Molecular, clinicopathological characteristics and surgical results of resectable SMARCA4- deficent thoracic tumors

68Ga-DOTA-FAPI-04 PET/CT in the Detection of Thoracic SMARCA4-Deficient Undifferentiated Tumor

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