Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients

Crombé, Amandine; Alberti, N; Villard, Nicolas; Pilleul, F.; Buy, Xavier; Loarer, François Le; Kind, Michèle

doi:10.1007/s00330-019-06017-x

Cited by 47 publications

(83 citation statements)

References 29 publications

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“…Thus, we introduce a rare malignancy, called SMARCA4-deficient thoracic tumour (SMARCA4-DTT), a distinct entity of undifferentiated thoracic malignancy that was first described in 2015 (22), presenting aggressive behaviour with compressive or infiltrative features and conferring a poor prognosis. SMARCA4-DTT mainly involves the mediastinum, lung, and/or pleura and mostly occurs in heavy smokers with emphysema; it requires complete identification and differentiation from other epithelial malignancies involving the thoracic region, and fortunately, many physicians are becoming increasingly aware of this disease (23,24). The majority of SMARCA4-DTTs have been reported as SMARCA4-deficient thoracic sarcomas thus far, but an increasing number of carcinomas have been reported (25).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Multicentric Reticulohistiocytosis Associated With Posterior Mediastinal Adenosquamous Carcinoma, Antinuclear Antibody Positivity and Lupus Anticoagulant Positivity

et al. 2022

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Multicentric reticulohistiocytosis (MRH) is a rare systemic disease of non-Langerhans cell histiocytosis. A number of studies in the literature have documented that it can coexist with malignancy or autoimmune disease, making it difficult to determine the most appropriate therapy. Here, we present a case study of MRH associated with posterior mediastinal adenosquamous carcinoma along with antinuclear antibody positivity and lupus anticoagulant positivity. The patient experienced 6 months of clinical benefit after surgical resection and chemoradiotherapy of the mediastinal malignancy. This case adds to the available literature on multicentric reticulohistiocytosis associated with different types of malignancy and provides supplementary clinical data on the coexistence of this syndrome with malignancy and immune system abnormalities. To the best of our knowledge, this is the first case study describing MRH accompanied by posterior mediastinal adenosquamous carcinoma and lupus anticoagulant positivity. The unknown aetiology and polymorphic clinical presentation of MRH warrants further investigation.

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Section: Discussionmentioning

confidence: 99%

Case Report: Multicentric Reticulohistiocytosis Associated With Posterior Mediastinal Adenosquamous Carcinoma, Antinuclear Antibody Positivity and Lupus Anticoagulant Positivity

et al. 2022

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“…In a largest case series of 21 cases that reported imaging findings for this disease, four patterns of [ 18 F]FDG PET/CT were proposed: mediastinal, pleural, cervical, and retroperitoneal (Crombé et al 2019 ). The present case was close to the pleural pattern, but was different from previous reports because it did not form one large mass.…”

Section: Discussionmentioning

confidence: 99%

“…SMARCA4-deficient thoracic tumor (SMARCA4-DTT) is a distinct entity of undifferentiated thoracic malignancies newly introduced by Le Loarer et al in 2015 . SMARCA4-DTT is characterized by loss of SMARCA4, showing undifferentiated round cell or rhabdoid morphology presenting as aggressive behavior with compressive or infiltrative tumors mostly involving the mediastinum, lung, and/or pleura (Le Loarer et al 2015 ; Crombé et al 2019 ; Yoshida et al 2017 ). Previous studies reported that it has male predominance (73.0–91.6%) and younger onset (median age 39–58, range 27–90 years), with a heavy smoking history (Le Loarer et al 2015 ; Rekhtman et al 2020 ; Perret et al 2019 ; Yoshida et al 2017 ).…”

Section: Introductionmentioning

confidence: 99%

“…Because of its aggressive behavior and absence of effective therapies, it has a poor prognosis with reported median overall survival of 7 months (Le Loarer et al 2015 ). Computed tomography (CT) usually shows relatively large tumor (mean size 9.2 [2.2–18.3] cm), showing an extensive involvement of thoracic structures, such as mediastinal, chest wall, and/or lung infiltration (Rekhtman et al 2020 ; Crombé et al 2019 ). Pulmonary emphysema/bullae are also common findings (Yoshida et al 2017 ) due to the heavy smoking history, which could also be seen in other thoracic malignancies, such as lung cancer or malignant mesothelioma (Perret et al 2019 ; Yoshida et al 2017 ).…”

Section: Introductionmentioning

confidence: 99%

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

Okazaki

Yokoyama

Tsuchiya

et al. 2021

European J Hybrid Imaging

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Background SMARCA4-deficient thoracic tumor (SMARCA4-DTT) is a distinct entity of undifferentiated thoracic malignancies newly introduced in 2015. Due to its unique clinical characteristic with aggressive thoracic tumor mostly observed in heavy smoker man with emphysema, with poor prognosis, many physicians are becoming increasingly aware of the disease; however, reports on 2-deoxy-2-[18F] fluoroglucose positron emission tomography/computed tomography ([18F]FDG PET/CT) have been limited; thus, this disease is not yet widely known to nuclear medicine clinicians. As a first step in discussing the usefulness of [18F]FDG PET/CT for this disease, we present a case in which [18F]FDG PET/CT played a clinically important role. Case A 74-year-old heavy smoker man with an anamnesis of severe emphysema characterized by pleural thickening and abnormal enhancement in CT underwent 18F-FDG PET/CT for further examination. [18F]FDG-avid pleural nodules infiltrating into the chest wall were detected and pathologically diagnosed as SMARCA4-DTT with biopsy. Conclusion SMARCA4-deficient thoracic tumor should be considered in a [18F]FDG-avid aggressive thoracic tumor in heavy smoker men with emphysema.

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“…2,3 Thoracic imaging shows compressive and infiltrative chest masses with ill-defined necrotic lymphadenopathy. 4…”

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confidence: 99%

SMARCA4-Deficient Thoracic Sarcoma

et al. 2020

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Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients

Cited by 47 publications

References 29 publications

Case Report: Multicentric Reticulohistiocytosis Associated With Posterior Mediastinal Adenosquamous Carcinoma, Antinuclear Antibody Positivity and Lupus Anticoagulant Positivity

Case Report: Multicentric Reticulohistiocytosis Associated With Posterior Mediastinal Adenosquamous Carcinoma, Antinuclear Antibody Positivity and Lupus Anticoagulant Positivity

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

SMARCA4-Deficient Thoracic Sarcoma

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