Case reports

Thoracic SMARCA4-deficient undifferentiated tumour: a case report

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  • Department of Pathology, Xi'an Daxing Hospital, Shaanxi Xi'an 710016, China

Received date: 2023-01-03

  Online published: 2023-12-18

Abstract

Thoracic SMARCA4-deficient undifferentiated tumor is a rare type of undifferentiated tumor occurring in the pleura. Their morphological features are poorly differentiated. A malignant tumor that lacks glandular, squamous, or other distinct cell lineages, as demonstrated by histological and immunohistochemical staining, is characterized by plasmacytoid and rhabdomytoid cell morphology and loss of SMARCA4 expression. We report a case of an undifferentiated tumor in the pleura with a SMARCA4 deletion,The tumor cells were plasmacytoid or rhabdomytoid,Poor cell differentiation, Immunohistochemical staining showed Syn positive in tumor cells,SMARCA4 expression is deficient,The proliferation index of Ki-67 was 80%,Other markers were all negative The patient was a heavy smoker and previously healthy.Patients with insidious onset,It was found in an advanced stage.After the surgery, no treatment was administered, and the patient survived for only 66 days.There was no significant difference in the survival time of advanced patients who received traditional treatment after surgery compared with those reported in the literature.The clinical data, histological characteristics and immunohistochemistry were retrospectively analyzed, and a review of the relevant literature suggests that SMARCA4-deficient undifferentiated tumors are highly aggressive and have a poor prognosis.

Cite this article

ZHANG Lanlan, YANG Qiao, NIE Zunzhen, GUO Ying . Thoracic SMARCA4-deficient undifferentiated tumour: a case report[J]. Journal of Diagnostics Concepts & Practice, 2023 , 22(04) : 389 -392 . DOI: 10.16150/j.1671-2870.2023.03.010

References

[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[J]. Nat Genet, 2015, 47(10):1200-1205.
[2] Thoracic tumours[M]// WHO Classification of Tumors. 5th. Lyon, France: WHO/IARC Press, 2021:111-114.
[3] REKHTMAN N, MONTECALVO J, CHANG J C, et al. SMARCA4-Deficient thoracic sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas[J]. J Thorac Oncol, 2020, 15(2):231-247.
[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[J]. Am J Surg Pathol, 2019, 43(4):455-465.
[5] 朱培培, 李新星, 刘佳涵, 等. SMARCA4缺失性肿瘤的临床病理学特征[J]. 中华病理学杂志, 2022, 51(8):792-798.
[5] ZHU P P, LI X X, LIU J H, et al. Clinicopathological features of SMARCA4-deficient tumors[J]. Chin J Pathol, 2022, 51(8):792-798.
[6] 李超, 王映梅, 张静. 鼻窦SMARCA4缺失性癌1例[J]. 中华病理学杂志, 2022, 51(2):157-159.
[6] LI C, WANG Y M, ZHANG J. SMARCA4-deficient sinonasal carcinoma: report of a case[J]. Chin J Pathol, 2022, 51(8):792-798.
[7] 吴方君, 肖伟进, 彭然, 等. 胸部SMARCA4缺失的未分化肿瘤22例临床病理分析[J]. 临床与实验病理学杂志, 2022, 38(8):948-952.
[7] WU F J, XIAO W J, PENG R, et al. Clinicopathological analysis of 22 cases with SMARCA4-dificient in the chest undifferentiated tumors[J]. J Clin Exp Pathol, 2022, 38(8):948-952.
[8] 赵汝楠, 邹宜覃, 陈鸿远, 等. 伴有SMARCA4缺失的非小细胞肺癌9例临床病理分析[J]. 中国肺癌杂志, 2022, 25(8):575-582.
[8] ZHAO R N, ZOU Y T, CHEN H Y, et al. Analysis of clinicopathologic features of 9 cases of SMARCA4-deficient non-small cell lung cancer[J]. Chin J Lung Cancer, 2022, 25(8):575-582.
[9] YOSHIDA A, KOBAYASHI E, KUBO T, et al. Clinicopathological and molecular characterization of SMARCA4-deficient thoracic sarcomas with comparison to potentially related entities[J]. Mod Pathol, 2017, 30(6):797-809.
[10] 陈沁阳, 张杰, 谢晓慧, 等. SMARCA4/BRG1缺陷型非小细胞肺癌的临床病理特点和治疗策略[J]. 中国肿瘤临床, 2022, 49(3):155-158.
[10] CHEN Q Y, ZHANG J, XIE X H, et al. Clinicopathological features and treatment strategies of SMARCA4/BRG1-deficient non-small cell lung cancer[J]. Chin J Clin Oncol, 2022, 49(3):155-158.
[11] MARDINIAN K, ADASHEK J J, BOTTA G P, et al. SMARCA4: Implications of an altered chromatin-remodeling gene for cancer development and therapy[J]. Mol Cancer Ther, 2021, 20(12):2341-2351.
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