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一例膀胱横纹肌肉瘤患者TP53基因突变的病例报告及文献综述

A case report and literature review on TP53 gene mutation in a bladder rhabdomyosarcoma patient.

作者信息

Li Yixuan, Yang Tianci, Zheng Zhouhang, Wang Zhong, Umar Shahzard Muhammad, Fan Ning, He Shenbao, Chang Wei, Wang Wei

机构信息

The Second Clinical Medical School, Lanzhou University, Lanzhou, China.

The Clinical Medical School, Yan'an University, Yan'an, China.

出版信息

Front Oncol. 2024 Jul 30;14:1396368. doi: 10.3389/fonc.2024.1396368. eCollection 2024.

Abstract

BACKGROUND

Rhabdomyosarcoma of the bladder is an infrequent neoplastic condition characterized by a pronounced malignant situation with challenges in treatment due to the lack of standardized guidelines and large-scale of clinical studies. The patient in this case is tested TP53 mutation that may provide new diagnostic and therapeutic options.

CASE PRESENTATION

Here, we reported a 34-year-old male who received bladder tumor resection, and diagnosed as bladder rhabdomyosarcoma with TP53 mutation after the pathology test. This patient underwent 6 rounds of chemotherapy. However, the pelvic tumor recurred 11 months after the first surgery. So, the patient accepted the pelvic tumor resection. Only 3 months after the surgical intervention, the patient underwent abdominal massive metastasis and ultimately succumbed to the illness six months following the second surgery. The course of the illness was 22 months.

CONCLUSION

Bladder rhabdomyosarcoma is a disease with an extremely poor prognosis. Genetic testing holds significant value in the diagnosis and treatment. Perhaps targeted therapy against TP53 is potential valuable for such rare diseases.

摘要

背景

膀胱横纹肌肉瘤是一种罕见的肿瘤性疾病,其特点是恶性程度高,由于缺乏标准化指南和大规模临床研究,治疗面临挑战。该病例患者检测出TP53突变,这可能为诊断和治疗提供新的选择。

病例介绍

在此,我们报告一名34岁男性,接受了膀胱肿瘤切除术,病理检查后诊断为伴有TP53突变的膀胱横纹肌肉瘤。该患者接受了6轮化疗。然而,首次手术后11个月盆腔肿瘤复发。因此,患者接受了盆腔肿瘤切除术。手术干预仅3个月后,患者出现腹部广泛转移,最终在第二次手术后6个月病逝。病程为22个月。

结论

膀胱横纹肌肉瘤是一种预后极差的疾病。基因检测在诊断和治疗中具有重要价值。针对TP53的靶向治疗可能对此类罕见疾病具有潜在价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e77f/11319136/c3674405fb02/fonc-14-1396368-g001.jpg

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本文引用的文献

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Should mutant TP53 be targeted for cancer therapy?是否应该针对突变型 TP53 进行癌症治疗?
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Rhabdomyosarcoma of the Urinary Bladder Occurring in an Adult.
Urology. 2022 Jun;164:306-307. doi: 10.1016/j.urology.2021.10.018. Epub 2021 Nov 1.
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Putting p53 in Context.将p53置于背景中考虑。
Cell. 2017 Sep 7;170(6):1062-1078. doi: 10.1016/j.cell.2017.08.028.
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Tumor-Suppressor Functions of the TP53 Pathway.TP53 通路的肿瘤抑制功能
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