伴有 PDGFRA 和 TP53 缺失突变的腹部恶性肌样雷肉瘤:病例报告

Yao-xuan Li, Jian-ping Yu, Yan-qing Gong, Hai-fu Huang, Xian-lin Wu
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摘要

恶性子宫肌层肉瘤(MMLS)最常见于子宫,但也可发生于其他部位,如四肢、外阴、胸壁和腹腔。这种癌症在女性中发病率较高,预后较差,复发率高,转移率也很高。在此,我们报告了一例 64 岁女性患者的病例,她因左下腹肿块就诊 3 个月。患者接受了腹部恶性肿瘤切除术,随后被确诊为肌样亮肌肉瘤。患者在初次手术后出现复发和转移,并伴有明显腹水,口服安罗替尼联合 Tislelizumab 免疫疗法治疗无效。使用下一代测序技术(NGS)进行的进一步基因检测发现,患者血浆中的 PDGFRA 和 TP53 基因存在错义突变,但未检测到 KIT 基因突变。肿瘤组织的免疫组化分析也显示 PD-L1 呈阴性表达。因此,我们将她的靶向治疗改为阿伐替尼,结果她的症状(包括腹胀和腹痛)明显改善,腹水减少,KPS评分从治疗前的60分上升到治疗后的90分,治疗后三个月达到SD(病情稳定)。在这份病例报告中,我们介绍了一名PDGFRA和TP53基因均发生错义突变的恶性肌样白肉瘤患者的病例。我们发现,使用阿伐替尼(Avapritinib)进行靶向治疗有效地改善了该患者的预后。我们的研究结果表明,基因检测可以更好地了解患者的生物学行为、基因特征以及患者对某些药物的反应和耐受性,从而为患者选择最佳治疗方案。对于具有类似基因突变的子宫肌瘤患者来说,阿伐替尼可能是一种很有前景的新治疗方案。
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Abdomen Malignant Myxoid Leiomyosarcoma with PDGFRA and TP53 Missense Mutation: A Case Report
Malignant myxoid leiomyosarcoma (MMLS) is most commonly found in the uterus but can also occur in other areas, such as the extremities, vulva, chest wall, and abdominal cavity. This cancer is more prevalent in women and has a poor prognosis with a high rate of recurrence and a significant percentage of metastasis. Herein, we report the case of a 64-year-old female patient who presented with 3-month history of left lower abdominal mass. The patient underwent abdominal malignancy resection and was subsequently diagnosed with myxoid leiomyosarcoma. The patient experienced a recurrence and metastasis with significant ascites after the initial surgery and did not respond to treatment with oral Anrotinib in combination with Tislelizumab immunotherapy. Further genetic testing using next-generation sequencing (NGS) identified missense mutations in the PDGFRA and TP53 genes in the patient's plasma, but no mutations in the KIT gene were detected. Immunohistochemical analysis of the tumor tissue also revealed a negative expression of PD-L1. As a result, we altered her targeted therapy to Avapritinib, which resulted in significant improvement in her symptoms, including abdominal distension and pain, a decrease in ascites, and the KPS score increased from 60 points before treatment to 90 points after treatment SD (stable disease) was achieved for three months after treatment. In this case report, we present the instance of a patient with malignant myxoid leiomyosarcoma with a missense mutation in both the PDGFRA and TP53 genes. We found that targeted therapy with Avapritinib was effective in achieving a positive outcome in this patient. Our findings suggest that genetic detection is possible to better understand the biological behavior, genetic characteristics, and patient's response and tolerance to certain drugs, thus selecting the best treatment plan for the patient. Avapritinib may be a promising new treatment option for leiomyosarcoma patients with similar genetic mutations.
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