关键词: TP53 bladder tumor case report gene mutation rhabdomyosarcoma

来  源:   DOI:10.3389/fonc.2024.1396368   PDF(Pubmed)

Abstract:
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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:
膀胱横纹肌肉瘤是一种罕见的肿瘤性疾病,其特征是由于缺乏标准化指南和大规模临床研究,在治疗方面存在挑战。在这种情况下,患者被测试TP53突变,其可以提供新的诊断和治疗选择。
这里,我们报道了一名34岁的男性,他接受了膀胱肿瘤切除术,病理检查后诊断为膀胱横纹肌肉瘤,TP53突变。该患者接受了6轮化疗。然而,第一次手术后11个月盆腔肿瘤复发。所以,患者接受盆腔肿瘤切除术。手术干预后仅3个月,该患者经历了腹部大量转移,并最终在第二次手术后六个月死于疾病。病程为22个月。
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。也许针对TP53的靶向治疗对于此类罕见疾病具有潜在的价值。
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