Trimble E L, Karlan B Y, Lagasse L D, Hoskins W J
Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York.
Obstet Gynecol. 1991 Dec;78(6):1023-6.
We report four sisters whose maternal pedigree suggested a site-specific ovarian cancer syndrome, whereas their paternal pedigree closely fit the Cancer Family Syndrome (Lynch II). Eliciting a complete family history, both maternal and paternal, is important for defining the correct ovarian cancer syndrome. Once the definition is made, the patient and other family members at risk must be counseled and encouraged to begin the appropriate schedule of screening and intervention. These recommendations may be summarized as follows: 1) site-specific ovarian carcinoma: screening with physical examination, CA 125, and ultrasound, and bilateral oophorectomy after childbearing has been completed; 2) breast/ovary syndrome: screening for ovarian cancer as above, mammography and bilateral oophorectomy as above, and possible prophylactic mastectomy; and 3) Lynch Cancer Family Syndrome: screening for ovarian cancer as above, colonoscopy and endometrial biopsy, and prophylactic hysterectomy and bilateral oophorectomy once childbearing is complete.
我们报告了四姐妹，她们母系家族谱系提示为位点特异性卵巢癌综合征，而父系家族谱系则与癌症家族综合征（林奇II型）高度相符。详细询问母系和父系完整家族史对于明确正确的卵巢癌综合征至关重要。一旦明确诊断，必须为患者及其他有风险的家庭成员提供咨询，并鼓励他们开始适当的筛查和干预计划。这些建议可总结如下：1）位点特异性卵巢癌：通过体格检查、CA 125和超声进行筛查，生育完成后行双侧卵巢切除术；2）乳腺/卵巢综合征：如上所述筛查卵巢癌，如上所述进行乳房X线摄影和双侧卵巢切除术，并可能进行预防性乳房切除术；3）林奇癌症家族综合征：如上所述筛查卵巢癌，进行结肠镜检查和子宫内膜活检，生育完成后行预防性子宫切除术和双侧卵巢切除术。
