高危原发前列腺胃肠道外间质瘤诊疗体会及文献复习

目的探讨前列腺原发胃肠道外间质瘤诊治要点。 方法回顾性分析我院2017年9月诊治的1例高危原发性前列腺胃肠道外间质瘤临床病理特征资料、随访情况,总结现有文献讨论总结本病诊治心得。 结果65岁男性,因"前列腺电切术后2年,反复血尿3个月余"入院。术前MRI考虑为来源不清的盆腔巨大实性占位（115 mm×105 mm×85 mm）,经直肠穿刺诊断为梭形细胞来源的肿瘤。行盆腔肿瘤切除+膀胱前列腺腺切除+盆腔淋巴结清扫术+Bricker术。术后病理提示为前列腺原发胃肠道外间质瘤CD117（+）;Dog1（+）;CD34（+）;PSA（+）;AR（+）;P504s（+）;Ki-67（2%）]。术后肿瘤组织全外显子测序提示为C-Kit基因（Exon 11 p.Q556-V560del）存在明显临床意义突变,筛选靶向药物甲磺酸伊马替尼+比卡鲁胺（PSA平稳后停用）口服,术后随访18个月无肿瘤复发及不良并发症。 结论前列腺原发胃肠道外间质瘤罕见,需与前列腺其他良恶性肿瘤相鉴别诊断。全外显子测序了解其发病高危基因,同时筛选药物辅助治疗可使患者生存获益。

Novel treatment for high-risk primary prostatic extra-gastrointestinal stromal tumor: a case report and review of the literature

ObjectiveTo discuss the clinical characteristics and treatment for a rare case of the high-risk primary prostatic extra-gastrointestinal stromal tumor (PEGIST). MethodsThe hospital registry of patient and the related literature analyzed retrospectively and reviewed. ResultsA 65 years old male patients with the complaint of intermittent hematuria for three months and admitted in our institute. MRI showed that a giant solid pelvic mass (115 mm×105 mm×85 mm) with unknown origin, transrectal biopsy was performed, and pathological results were spinal cell tumor with the suspect from prostate or rectal mesentery. A laparotomy was prescribed, with the radical prostatocystotomy, standard pelvic lymph node resection, Bricker ileal conduit diversion, Postoperative pathological results were high-risk primary PEGIST according to the aggressive behavior of gastrointestinal stromal tumor workshop. Immunohistochemistry results showed that (CD117(+); Dog1(+); CD34(+); PSA(+); AR(+); P504s(+); Ki-67(2%) ]. Whole-exome sequencing (WES) results identified it harbored with the significant clinical Kit defect (Exon 11 p.Q556-V560del) and the therapeutic candidate of Imatinib mesylate for adjuvant therapy. No signs of recurrence and drug-related complications occurred after 18 months follow-up. ConclusionsPrimary prostatic EGIST need to be differentiated from other benign and malignant prostatic diseases, and WES identified the underlying genetic defect in rare cases referred for evaluation of a possible genetic condition and decision of drug candidate.