女性间质瘤误诊为妇科肿瘤2例并文献复习

Stromal tumors misdiagnosed as women gynecological cancer:a study of two cases and review of literature

目的了解女性间质瘤与妇科肿瘤的诊断及鉴别诊断。方法回顾分析2例间质瘤误诊为妇科肿瘤病历资料,并复习文献资料。结果 33篇文献资料共报道误诊病例61例,与本文2例合计63例,其中胃肠道间质瘤(gastrointestinal stromal tumor,GIST)51例,胃肠道外间质瘤(extra-gastrointestinal stromal tumor,EGIST)12例。1临床特征:两者均以发现腹、盆腔包块居首,均有腹痛,腹胀、腹部饱满不适等症状;妇科检查:GIST盆腔包块18/18,位置较高2/18;EGIST盆腔包块3/7,阴道后壁包块2/7;2辅助检查:2例GIST、4例EGIST CA125升高,均恶性。仅2/47GIST多次B超定位不同,提示包块可能来源于肠道;5/15 GIST CT检查提示包块来源于肠道可能;3间质瘤主要来源、转移部位及合并症:GIST:小肠36/51,转移附件/子宫5/51,合并妇科肿瘤6/51。EGIST:腹腔内4/12,卵巢3/12。4病理检查与免疫组化:GIST:高度恶性35/51。EGIST:高度恶性4/12;腹膜播散性平滑肌瘤病1/12。两者阳性表达前三项为CD117、CD34、Vimentin。结论女性间质瘤特别是低位、肿瘤较大者,具有很大移动性,恶性EGIST与妇科肿瘤特征相似。建议妇科医生详细询问病史、完善检查,必要时多次B超联合CT等检查,提高术前诊断率;术后病理检查、免疫组化明确诊断。

Objective To understand the diagnosis and differential diagnosis in women stromal tumors and gynecological cancer. Method A retrospective analysis was firstly conducted into the medical record of 2 cases of stromal tumors misdiagnosed as gynecological tumor. 33 pieces of relevant literature were then reviewed. Findings 61 cases misdiagnosis were reported in the 33 articles reviewed and 2 cases identified in this paper,which amounted to 63 cases of misdiagnosis. Of the63 cases of misdiagnosis,there were 51 cases of GIST,and 12 cases of EGIST.①The clinical manifestations of GIST / EGIST were found in abdominal or pelvic mass first. Both of them exhibited abdominal pain,abdominal distension,and abdominal fullness discomfort. Gynecologic examination resulted in GIST with pelvic mass 18 /18,2 /18 mass in higher position,EGIST pelvic masses 3 /7,and posterior vaginal wall mass in 2 /7.②Auxiliary examination resulted in 2 cases of GIST and 4 cases of EGIST with increased CA125,both malignant. Only 2 /47 multiple diagnosis B ultrasound results varied,indicating that the mass was derived from the gut. 5 /15 GIST CT examination suggested that the gut was the possible source of the mass.③The stromal tumor source,metastasis and other complications： GIST： the small intestine 36 /51,mesentery of small intestine and ileum in 3 /51,2 /51 of stomach,jejunum,colon,sigmoid colon,the right colon,ileocecal,appendix 1 /51,intestinal（ without record） 2/51; metastasis of uterine attachment 5/51; combined with gynecologic tumor in 6/51; chronic appendicitis in 1 /51. EGIST： intraperitoneal 4 /12,3 /12 of ovarian,broad ligament 2 /12,vesicouterine peritoneum in 1 /12,2 /12 of posterior wall of vagina.④The pathology and immunohistochemistry record： GIST： malignant or high risk of 35 /51;moderate malignant or moderate risk of 4 /51; low grade 5 /51. EGIST： malignant or high risk of 4 /12; low grade 1 /12; 1 /12 of leiomyomatosis peritonealis disseminata. The top three positive expression within GIST / EGIST was CD117,CD34,Vimentin. Conclusion Female stromal tumors,in particular,low and larger ones were associated with great mobility.Malignant EGIST was similar as characteristics of gynecological tumors. Multiple B ultrasound examinations combined with CT scanning may improve the stromal tumor diagnosis before surgery. Pathological and immunohistochemical diagnosis should then be conducted to confirm the diagnosis in order to minimize cases of misdialgnosis and missed dialgnosis.