Lin Yan, Gao Xing, Liu Ziyu, Liu Zhihui, Li Yongqiang, Liang Rong, Liao Zhiling, Ye Jiazhou
Department of Medical Oncology, Guangxi Medical University Cancer Hospital, Nanning, Guangxi, People's Republic of China.
Department of Pathology, Guangxi Medical University Cancer Hospital, Nanning, Guangxi, People's Republic of China.
Pharmgenomics Pers Med. 2022 Jun 7;15:573-582. doi: 10.2147/PGPM.S359492. eCollection 2022.
Low-grade myofibroblastic sarcoma (LGMS) is a rare, poorly differentiated, malignant tumor. The disease mainly occurs in the head and neck and rarely metastasizes at any age. Currently, there is no consensus regarding the treatment of metastatic LGMS. Here, we report the case of a 45-year-old man who was admitted to our hospital with cough for two weeks and abdominal pain for one week. Preoperative computed tomography revealed a large mass (116×35 mm) in both the lungs and jejunal mass (maximum diameter, 32 mm). The tumor was excised, and immunohistochemical staining was positive for SMA and CD117 and negative for desmin and CD34, indicating a case of LGMS. The patient was effectively treated with apatinib (250 mg/day) after failure of imatinib, liposomal doxorubicin, and ifosfamide. The progression-free survival time was 8.5 months, and the overall survival time was 17 months after treatment with apatinib. No grade 3 or 4 side effects were observed, except hand-foot syndrome. Whole-exome sequencing (WES) and RNA sequencing (RNA-seq) were performed on the patient's jejunal tumor and para-cancerous tissue samples, and bioinformatics analysis was performed on the results. WES identified five mutations in MKI67, OR2J2, EPPK1, FCGBP, and OR10G4. RNA-seq revealed that 1422 genes were upregulated and 1890 genes were downregulated. The differentially expressed genes were mainly enriched in the phosphatidylinositol 3-kinase (PI3K) signaling pathway, neuroactive ligand-receptor interaction signaling pathway, and cAMP signaling pathway. Our study indicated that apatinib may be a potential novel and effective treatment for LGMS.
低级别肌成纤维细胞肉瘤（LGMS）是一种罕见的、低分化恶性肿瘤。该疾病主要发生在头颈部，在任何年龄都很少发生转移。目前，对于转移性LGMS的治疗尚无共识。在此，我们报告一例45岁男性患者，因咳嗽两周、腹痛一周入院。术前计算机断层扫描显示双肺有一个大肿块（116×35mm）以及空肠肿块（最大直径32mm）。肿瘤被切除，免疫组化染色显示平滑肌肌动蛋白（SMA）和CD117呈阳性，结蛋白和CD34呈阴性，提示为LGMS病例。在伊马替尼、脂质体阿霉素和异环磷酰胺治疗失败后，患者接受阿帕替尼（250mg/天）治疗有效。阿帕替尼治疗后无进展生存期为8.5个月，总生存期为17个月。除手足综合征外，未观察到3级或4级副作用。对患者的空肠肿瘤和癌旁组织样本进行了全外显子测序（WES）和RNA测序（RNA-seq），并对结果进行了生物信息学分析。WES在MKI67、OR2J2、EPPK1、FCGBP和OR10G4中鉴定出五个突变。RNA-seq显示1422个基因上调，1890个基因下调。差异表达基因主要富集在磷脂酰肌醇3激酶（PI3K）信号通路、神经活性配体-受体相互作用信号通路和cAMP信号通路。我们的研究表明，阿帕替尼可能是一种潜在的新型有效治疗LGMS的方法。
