遗传性卵巢上皮性癌综合征的临床研究

目的 探讨遗传性卵巢上皮性癌(卵巢癌)综合征(HOCS)的家族性遗传特点、临床病理特征、治疗及预后.方法 2000年1月至2007年1月间共收治卵巢癌患者580例,其中符合HOCS诊断者42例(遗传组),回顾性分析其临床病理资料及随访资料,并详细调查其家族伴发的恶性肿瘤情况.随机选取同期收治的散发性卵巢癌患者100例(散发组)作为对照.结果 HOCS的发生率为7.2%(42/580).42例HOCS患者来自39个家系,其中,8个家系中相关肿瘤分布于先证者同代,无法根据系谱判断其源自父系或母系;31个家系中相关肿瘤至少累及连续两代,其中27个(87%,27/31)家系来自母系、4个(13%,4/31)家系来自父系.遗传组患者平均发病年龄(49±10)岁,散发组为(55±10)岁,两组比较,差异有统计学意义(P<0.05);遗传组和散发组均以卵巢浆液性腺癌为主(其发生率分别为90%和84%,P>0.05),而散发组卵巢黏液性腺癌发生率(11%)明显高于遗传组(为0,P<0.05).遗传组主要临床表现为腹胀、食欲差,占64%,与散发组的70%比较,差异无统计学意义(P>0.05).遗传组和散发组分期均以Ⅲ期为主,分别占62%和63%,两组比较,差异无统计学意义(P>0.05).遗传组初治患者占33%(14/42),散发组占40%(40/100),两组比较,差异无统计学意义(P>0.05).手术方式以肿瘤细胞减灭术为主,遗传组接受了2次手术的患者占36%(15/42)、接受了3次或以上手术者也占36%(15/42),散发组分别占50%(50/100)、27%(27/100),两组间分别比较,差异均无统计学意义(P>0.05);遗传组平均化疗13.3个疗程,散发组平均11.8个疗程,两组比较,差异无统计学意义(P>0.05).遗传组3、5年累积生存率分别为73.6%、54.9%,散发组分别为47.4%、21.2%,两组间分别比较,差异均有统计学意义(P<0.05).结论 HOCS来自母系的发生率较高,发病年龄早,病理类型以卵巢浆液性腺癌为主,就诊时多数为晚期(Ⅲ期),主要治疗手段为肿瘤细胞减灭术+多疗程化疗的综合治疗,预后较散发性卵巢癌好.

Clinicopathological characteristics of hereditary ovarian cancer syndrome

Objective To explore the clinicopathological characteristics of hereditary ovarian cancer syndrome(HOCS). Methods From Jan. 2000 to Jan. 2007, among 580 cases of primary ovarian cancer, 42 cases(herediatary group),who had a positive family history of ovarian cancer and met the diagnostic criteria of HOCS, were analyzed retrospectively. One hundred cases without a family history of ovarian cancer were enrolled randomizely as control group (sporadic group). Results The incidence of HOCS was 7.2% (42/580). Forty-two cases associated tumors affected at least 2 successive generations in 31 families and affected 1 generation in 8 families. Eighty-seven percent (27/31)was from maternal lineage, while 13% (4/31)from paternal lineage. Earlier age of onset was significantly difference between two groups[(49±10) years vs. (55±10) years, P<0.05]. There were 90% belong to serous adenocarcinoma in the herediatary group, while 84% in the sporadic group. There was statistical difference in the proportion of mucinous adenocarcinoma (0 vs. 11%, P<0.05). The most common clinical manifestations were abdominal distention and anorexia (64% vs. 70%, P>0.05), International Federational of Gynecology Obstetrics(FIGO)stage Ⅲ (62% vs. 63%, P>0.05) between two groups. Fourteen cases (33%,14/42) were previously untreated in the herediatary group, while 40 cases (40%, 40/100) in the sporadic group. There were 15 cases (36%, 15/42) underwent secondary surgery and 15 cases (36%, 15/42) underwent third surgery or more in berediatary group, while 50 cases (50%, 50/100) and 27 cases(27%, 27/100) in the sporadic group. The mean number of ehemotberapy cycles received in two groups was 13.3 and 11.8 (P>0.05). The 3-year and 5-year survival rate in herediatary group were 73.6% and 54.9% respectively, compared with 47.4% and 21.2% (P<0.05) in sporadic group. Conclusion Hereditary ovarian cancer mostly from maternal lineage are featuring in early age of onset, serous adenocarcinoma, advanced stage (stage Ⅲ), and better prognosis after the comprehensive treated by cytoreductive surgery plus with chemotherapy.