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小肠系膜转移性SMARCA4缺陷型未分化肿瘤:病例报告

Metastatic SMARCA4-deficient undifferentiated tumor in the small mesentery: case report.

作者信息

Luo Shuai, Tian Xiaoxue, Xu Ting, Wang Jinjing

机构信息

Department of Pathology, Affiliated Hospital of Zunyi Medical University, Zunyi City, Guizhou Province, P.R. China.

出版信息

World J Surg Oncol. 2024 Dec 20;22(1):337. doi: 10.1186/s12957-024-03619-8.

Abstract

BACKGROUND

SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and highly malignant primary tumor characterized by the loss of SMARCA4 expression. Despite advancements in oncology, diagnosing and treating SMARCA4-UT remain significant clinical challenges.

CASE DEMONSTRATION

A 67-year-old male with a history of smoking presented to the hospital with complaints of abdominal distention and pain lasting for more than four days. Abdominal computed tomography (CT) revealed a high-density mass measuring approximately 41 × 37 mm in the right lower quadrant. Additionally, chest CT identified a high-density mass measuring 63 × 48 mm in the upper lobe of the right lung. The patient underwent partial small bowel resection, and postoperative pathological examination confirmed a diagnosis of SMARCA4-UT originating in the small mesentery. Unfortunately, the patient succumbed to respiratory failure 21 days after the diagnosis.

CONCLUSION

SMARCA4-UT is an exceedingly rare and aggressive undifferentiated tumor. This case highlights a presentation of SMARCA4-UT with abdominal pain and distention as initial symptoms. Clinicians should consider SMARCA4-UT in middle-aged or elderly male patients with a history of smoking who present with large masses. Comprehensive chest imaging is essential to exclude the thoracic primary disease in such cases.

摘要

背景

SMARCA4缺陷型未分化肿瘤(SMARCA4-UT)是一种罕见的高恶性原发性肿瘤,其特征为SMARCA4表达缺失。尽管肿瘤学取得了进展,但SMARCA4-UT的诊断和治疗仍然是重大的临床挑战。

病例展示

一名有吸烟史的67岁男性因腹胀和腹痛持续四天以上入院。腹部计算机断层扫描(CT)显示右下腹有一个高密度肿块,大小约为41×37毫米。此外,胸部CT显示右肺上叶有一个63×48毫米的高密度肿块。患者接受了部分小肠切除术,术后病理检查确诊为起源于小肠系膜的SMARCA4-UT。不幸的是,患者在诊断后21天死于呼吸衰竭。

结论

SMARCA4-UT是一种极其罕见且侵袭性强的未分化肿瘤。该病例突出了以腹痛和腹胀为首发症状的SMARCA4-UT的表现。临床医生应考虑在有吸烟史、出现大肿块的中老年男性患者中诊断SMARCA4-UT。在此类病例中,全面的胸部影像学检查对于排除胸部原发性疾病至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a5b7/11662568/f5c4a49c2b10/12957_2024_3619_Fig1_HTML.jpg

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