CASE REPORT
Thoracic SMARCA4-deficient undifferentiated tumour – a case of an aggressive neoplasm
1
Karadeniz Technical University, Faculty of Medicine, Department of Pathology, Trabzon, Turkey
Submission date: 2024-10-13
Final revision date: 2024-12-05
Acceptance date: 2025-02-02
Publication date: 2025-04-11
Corresponding author
Gizem Teoman
Department of Pathology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
Department of Pathology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey
Pol J Pathol 2025;76(1):70-74
KEYWORDS
TOPICS
ABSTRACT
SMARCA4-deficient undifferentiated tumours exhibit undifferentiated and rhabdoid features. These highly aggressive neoplasms pose significant diagnostic challenges. They are characterised by an inactivating mutation of SMARCA4, leading to the loss of expression of Brahma-related gene 1 (BRG1). Despite their rareness and poor differentiation as thoracic tumours, it is important to recognise these tumours because, despite being highly aggressive, there are potential treatment options for the future, such as immunotherapy and SMARCA4-targeted therapies. This case presentation aims to raise awareness of this rare neoplasm when evaluating cases presenting undifferentiated morphology.
REFERENCES (20)
1.
Le Loarer F, Watson S, Pierron G, et al. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet 2015; 47: 1200-1205.
2.
Nicholson AG, Tsao MS, Beasley MB, et al. The 2021 WHO classification of lung tumors: impact of advances since 2015. J Thorac Oncol 2022; 17: 362-387.
3.
Sauter JL, Graham RP, Larsen BT, Jenkins SM, Roden AC, Boland JM. SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior. Mod Pathol 2017; 30: 1422-1432.
4.
Perret R, Chalabreysse L, Watson S, et al. SMARCA4-deficient thoracic sarcomas: clinicopathologic study of 30 cases with an emphasis on their nosology and differential diagnoses. Am J Surg Pathol 2019; 43: 455-465.
5.
Gantzer J, Davidson G, Vokshi B, et al. Immune-desert tumor microenvironment in thoracic SMARCA4-deficient undifferentiated tumors with limited efficacy of immune checkpoint inhibitors. Oncologist 2022; 27: 501-511.
6.
Mundada M, Abdul Mannan K, Vasu D, et al. Under the microscope: a case report of thoracic SMARCA4-deficient undifferentiated tumor with review of the literature. Turk J Pathol 2024; 40: 128-133.
7.
Roden A. Thoracic SMARCA4- deficient undifferentiated tumor-a case of an aggressive neoplasm-case report. Mediastinum 2021; 5: 39-44.
8.
Zhou P, Fu Y, Tang Y, et al. Thoracic SMARCA4-deficient undifferentiated tumor: a clinicopathological and prognostic analysis of 35 cases and immunotherapy efficacy. Lung Cancer 2024; 189: 107471.
9.
Crombé A, Alberti N, Villard N, et al. Imaging features of SMARCA4-deficient thoracic sarcomas: a multi-centric study of 21 patients. Eur Radiol 2019; 29: 4730-4741.
10.
Takada K, Sugita S, Murase K, et al. Exceptionally rapid response to pembrolizumab in a SMARCA4-deficient thoracic sarcoma overexpressing PD-L1: a case report. Thorac Cancer 2019; 10: 2312-2315.
11.
Kawachi H, Kunimasa K, Kukita Y, et al. Atezolizumab with bevacizumab, paclitaxel and carboplatin was effective for patients with SMARCA4-deficient thoracic sarcoma. Immunotherapy 2021; 13: 799-806.
12.
Iijima Y, Sakakibara R, Ishizuka M, et al. Notable response to nivolumab during the treatment of SMARCA4-deficient thoracic sarcoma: a case report. Immunotherapy 2020; 12: 563-569.
13.
Nambirajan A, Dutta R, Malik PS, Bubendorf L, Jain D. Cytology of SMARCA4-deficient thoracic neoplasms: comparative analysis of SMARCA4-deficient non-small cell lung carcinomas and SMARCA4-deficient thoracic sarcomas. Acta Cytologica 2020; 65: 67-74.
14.
Rachidi SL, Firmin N, Elfadli M, et al. A Case report of SMARCA4-deficient thoracic sarcoma: a rare and aggressive disease with a grim prognosis. Cureus 2023;15(5): e39571.
15.
Shinno Y, Yoshida A, Masuda K, et al. Efficacy of immune checkpoint inhibitors in SMARCA4-deficient thoracic tumor. Clin Lung Cancer 2022; 23: 386-392.
16.
Stewart BD, Kaye F, Machuca T, et al. SMARCA4-deficient thoracic sarcoma: a case report and review of literature. Int J Surg Pathol 2020; 28: 102-108.
17.
Kunimasa K, Nakamura H, Sakai K, et al. Patients with SMARCA4-deficient thoracic sarcoma and severe skeletal-related events. Lung Cancer 2019; 132: 59-64.
18.
Rekhtman N, Montecalvo J, Chang JC, et al. SMARCA4-deficient thoracic sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas. J Thorac Oncol 2020; 15: 231-247.
19.
Kuwamoto S, Matsushita M, Takeda K, et al. SMARCA4-deficient thoracic sarcoma: report of a case and insights into how to reach the diagnosis using limited samples and resources. Hum Pathol 2017; 70: 92-97.
20.
Yoshida A, Kobayashi E, Kubo T, et al. Clinicopathological and molecular characterization of SMARCA4-deficient thoracic sarcomas with comparison to potentially related entities. Mod Pathol 2017; 30: 797-809.
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