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1.
林奇综合征(Lynch syndrome)又称为遗传性非息肉性结直肠癌综合征(HNPCC),属于常染色体显性遗传性疾病,是最常见的结直肠癌遗传形式。林奇综合征患者常会患有多种肿瘤,其中子宫内膜癌及卵巢癌与其关系最为密切,可以视为林奇综合征的“前哨”肿瘤。在诊断患有林奇综合征的女性中,其患子宫内膜癌的终生风险(60%)会高于患结直肠癌的风险。结合临床表现标准及肿瘤分子学评估可以对其进行高效的诊断。在林奇综合征的女性患者中,应每1~2年(而不是每年)进行子宫内膜活检,在生育结束后行预防性手术可以起到有效的筛查及预防作用。对林奇综合征及其相关的子宫内膜癌及卵巢癌不断有新的研究进展,主要对林奇综合征的诊断、相关的子宫内膜癌及卵巢癌进行综述。 相似文献
2.
患有林奇综合征(Lynch syndrome,LS)的妇女终生患子宫内膜癌和卵巢癌风险大幅增加.而子宫内膜癌或卵巢癌可以是LS患者的首发恶性肿瘤,也可以是第二原发恶性肿瘤.LS相关子宫内膜癌主要类型是子宫内膜样腺癌.近年来,有关LS相关子宫内膜癌及卵巢癌的筛查研究较少,主要是通过门诊子宫内膜活检、微卫星高不稳定性(mi... 相似文献
3.
Lynch综合征是一种已被公认的遗传性肿瘤综合征,是引起遗传性结直肠癌最常见的病因,也是目前唯一已知的遗传性子宫内膜癌的病因,Lynch综合征相关肿瘤还包括卵巢癌、胃癌、尿路上皮癌和小肠癌等。虽然已明确Lynch综合征的发病机制是错配修复缺陷和微卫星不稳定性,但是近年来其诊断和分子发病机制方面不断有新的进展,提示不同的错配修复基因缺陷对应着不同的Lynch综合征相关肿瘤及不同的发病率,对患者的监测产生着新的影响,治疗手段也在不断丰富和改进,如利用微卫星不稳定性的免疫效应治疗Lynch综合征相关肿瘤已取得了积极的成果。介绍Lynch综合征的遗传学特征、筛查诊断、其相关肿瘤的临床病理特征及治疗,重点阐述该综合征的最新进展。 相似文献
4.
Lancaster JM Powell CB Kauff ND Cass I Chen LM Lu KH Mutch DG Berchuck A Karlan BY Herzog TJ;Society of Gynecologic Oncologists Education Committee 《Gynecologic oncology》2007,107(2):159-162
Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast/Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk ovarian cancer. Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2 or MSH6, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancer as well as a 9-12% lifetime risk of ovarian cancer. Genetic risk assessment enables physicians to provide individualized evaluation of the likelihood of having one of these gynecologic cancer predisposition syndromes, as well the opportunity to provide tailored screening and prevention strategies such as surveillance, chemoprevention, and prophylactic surgery that may reduce the morbidity and mortality associated with these syndromes. Hereditary cancer risk assessment is a process that includes assessment of risk, education and counseling conducted by a provider with expertise in cancer genetics, and may include genetic testing after appropriate consent is obtained. This commentary provides guidance on identification of patients who may benefit from hereditary cancer risk assessment for Hereditary Breast/Ovarian Cancer and the Lynch/Hereditary Non-Polyposis Colorectal Cancer syndrome. 相似文献
5.
The genetics of many complex diseases, including hypertension, diabetes, and asthma, are receiving intense investigation and beginning to have therapeutic relevance. Family medical history can be a critical source of information for providing optimal patient care. For gynecologists, knowledge of cancer susceptibility genes such as BRCA1 and BRCA2 and the genetic syndrome hereditary nonpolyposis colorectal cancer (Lynch syndrome II) affects how patients are screened for ovarian and endometrial cancers. Similarly, identification of mutations in the fumarate hydratase (FH) gene that lead to a syndrome called hereditary leiomyomatosis and renal cell carcinoma (HLRCC) will impact screening and treatment of women with uterine leiomyomas. Hereditary leiomyomatosis and renal cell carcinoma syndrome is particularly relevant to clinicians and patients because of the resulting increased risk of malignant disease for both the affected woman and her family. The goals of this article are to summarize the evolving genetic information concerning uterine leiomyomas, including hereditary leiomyomatosis and renal cell carcinoma syndrome, and to discuss the clinical importance of these findings. The current role of family medical history and future implications of genes relevant to leiomyoma biology will be reviewed. 相似文献
6.
C. Garabedian S. Lejeune B. Merlot O. Kerdraon L. Boulanger P. Collinet 《Gynécologie, obstétrique & fertilité》2013,41(10):620-623
Endometrial cancer is the most common gynecologic cancer in France with an incidence in France in 2010, of 6560 new cases and 1900 deaths secondary to endometrial cancer. The main risk factors are age, hyperoestrogenic factors and hereditary syndroms. Prophylactic hysterectomy could prevent endometrial cancer in case of risk factors such as genetic syndroms. Actually, only Lynch syndrome is a validate indication and should be discussed in patients older than 40–45 years. Prophylactic hysterectomy does not seem a reasonable option to patients carrying BRCA 1 or 2 mutation. 相似文献
7.
Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families 总被引:1,自引:0,他引:1
OBJECTIVE: Women from Lynch syndrome/hereditary nonpolyposis colorectal cancer (Lynch/HNPCC) families have an increased lifetime risk of developing endometrial and ovarian cancer. This study models a comparison of management strategies for women who carry a Lynch/HNPCC mutation. METHODS: A decision analytic model with three arms was designed to compare annual gynecologic examinations with annual screening (ultrasonography, endometrial biopsy, CA 125) and with hysterectomy with bilateral salpingo-oophorectomy at age 30 years The existing literature was searched for studies on the accuracy of endometrial and ovarian cancer screening using endometrial biopsy, transvaginal ultrasonography, and serum CA 125. The Surveillance, Epidemiology and End Results database from 1988 to 2001 was used to estimate cancer mortality outcomes. RESULTS: In the surgical arm, 0.0056% of women were diagnosed with ovarian cancer and 0.0060% of women with endometrial cancer. These numbers increased to 3.7% and 18.4% in women being screened, and 8.3% and 48.7% in women undergoing annual examinations, respectively. Surgical management led to the longest expected survival time at 79.98 years, followed by screening at 79.31 years, and annual examinations at 77.41 years. If starting at age 30 and discounting life years at 3%, surgery still leads to the greatest expected life years. When comparing prophylactic surgery with the screening option, one would need to perform 75 surgeries to save one woman's entire life. For cancer prevention, however, only 28 and 6 prophylactic surgeries would need to be performed to prevent one case of ovarian and endometrial cancer, respectively. CONCLUSION: Risk-reducing hysterectomy and bilateral salpingo-oophorectomy may be considered in women with Lynch/HNPCC to prevent gynecologic cancers and their associated morbidities. 相似文献
8.
The breast, ovary and endometrial cancers are hereditary in 5 to 10% of the cases. These genetic predisposition syndromes can be classified into two major classes: ovarian cancer and breast cancer predisposition family cases (genes BRCA1 and BRCA2) and family cases of colon cancer, endometrial cancer and ovarian cancer (Lynch syndrome or HNPCC) (genes hMLH1, hMSH2, hMLH6). The estimate of the family and individual risk can contribute in a determining manner to the management of these patients, by the practice of screening or an adapted prevention. Indeed, the risk of cancer of an individual having a positive test for a gene of predisposition to breast cancer (BRCA1, BRCA2) or to the colon cancer (hMLH1, hMSH2, hMLH6) lies between 50 and 70% at the age of 70 years. The indication of a genetic test must be discussed within the framework of an oncogenetic consultation. An individual and family medical management ranging from simple monitoring to prophylactic surgery is proposed to these predisposed people. 相似文献
9.
Molly S. Daniels Diana L. Urbauer Azadeh Zangeneh Brittany A.L. Batte Katherine M. Dempsey Karen H. Lu 《Gynecologic oncology》2013
Objective
The aims of this study were to implement a patient-administered checklist designed to identify endometrial cancer patients at elevated risk for Lynch syndrome; measure subsequent genetic counseling and testing; and identify differences between those who attended genetic counseling and those who did not.Methods
We developed a 4-item yes/no checklist of personal and family history risk factors for Lynch syndrome-associated endometrial cancer and recommended referral for genetic counseling for patients meeting any of the criteria. Retrospective chart review was performed to determine subsequent genetic counseling and testing outcomes over a 15 month period.Results
6/387 (1.6%) of endometrial cancer patients tested positive for a Lynch syndrome mutation. 4/24 (17%) of endometrial cancer patients who met referral criteria and attended genetic counseling tested positive. 38/70 (55%) of patients who met referral criteria were not seen for genetic counseling. Patients who were diagnosed with endometrial cancer at younger ages, who had primary surgery at our institution, or who met more than one referral criteria were more likely to be seen for genetic counseling.Conclusions
Endometrial cancer patients who met referral criteria and attended genetic counseling comprised a population enriched for Lynch syndrome. This approach allowed Lynch syndrome evaluation resources to be targeted to a population of patients that is high risk and interested in the information. The referral rate of at-risk patients needs to be improved, and allocating resources towards this goal could increase the identification of Lynch syndrome while avoiding some of the pitfalls of universal screening. 相似文献10.
Caroline Cornou Anne Sophie Bats Charlotte Ngo L& eacute a Rossi Perrine Capmas Pierre Laurent-Puig Ch& eacute razade Bensaid Claude Nos Marie Aude Lefr& egrave re-Belda Fabrice L& eacute curu 《World Journal of Obstetrics and Gynecology》2016,5(4):218-225
Lynch syndrome (LS) is an autosomal dominant inherited cancer predisposition syndrome caused by a mismatch of DNA repair (MMR system). Lifetime risk of developing endometrial and ovarian cancer in LS is higher than in the general population and gynecologic screening appears interesting. Screening is based on several tests: pelvic ultrasound, endometrial biopsy and hysteroscopy for endometrial cancer, pelvic ultrasound and CA125 for ovarian cancer. Those tests appear efficient for the diagnosis of gynecologic cancers in LS. Nevertheless, screening tests have not proved clinical benefit until now, and potential problems of compliance, risk of false negative cases, and interval cancer associated with screening do justify offering prophylactic surgery to patients. Women with LS should be informed of the potential benefits and risks of screening and the importance of evaluation in case of gynecologic symptoms or abnormal bleeding. Chemoprevention by progestin-containing oral contraceptives and the treatment of premalignant lesion are available options for reducing the risk of endometrial cancer in LS population. 相似文献
11.
Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome 总被引:3,自引:0,他引:3
Lu KH Dinh M Kohlmann W Watson P Green J Syngal S Bandipalliam P Chen LM Allen B Conrad P Terdiman J Sun C Daniels M Burke T Gershenson DM Lynch H Lynch P Broaddus RR 《Obstetrics and gynecology》2005,105(3):569-574
OBJECTIVE: Women with hereditary nonpolyposis colorectal cancer syndrome have a 40-60% lifetime risk for colon cancer, a 40-60% lifetime risk for endometrial cancer, and a 12% lifetime risk for ovarian cancer. A number of women with hereditary nonpolyposis colorectal cancer syndrome will have more than one cancer in their lifetime. The purpose of this study was to estimate whether women with hereditary nonpolyposis colorectal cancer syndrome who develop 2 primary cancers present with gynecologic or colon cancer as their "sentinel cancer." METHODS: Women whose families fulfilled Amsterdam criteria for hereditary nonpolyposis colorectal cancer syndrome and who developed 2 primary colorectal/gynecologic cancers in their lifetime were identified from 5 large hereditary nonpolyposis colorectal cancer syndrome registries. Information on age at cancer diagnoses and which cancer (colon cancer or endometrial cancer/ovarian cancer) developed first was obtained. RESULTS: A total of 117 women with dual primary cancers from 223 Amsterdam families were identified. In 16 women, colon cancer and endometrial cancer/ovarian cancer were diagnosed simultaneously. Of the remaining 101 women, 52 (51%) women had an endometrial or ovarian cancer diagnosed first. Forty-nine (49%) women had a colon cancer diagnosed first. For women who developed endometrial cancer/ovarian cancer first, mean age at diagnosis of endometrial cancer/ovarian cancer was 44. For women who developed colon cancer first, the mean age at diagnosis of colon cancer was 40. CONCLUSION: In this large series of women with hereditary nonpolyposis colorectal cancer syndrome who developed 2 primary colorectal/gynecologic cancers, endometrial cancer/ovarian cancer was the "sentinel cancer," preceding the development of colon cancer, in half of the cases. Therefore, gynecologists and gynecologic oncologists play a pivotal role in the identification of women with hereditary nonpolyposis colorectal cancer syndrome. 相似文献
12.
子宫内膜癌是女性Lynch综合征患者最常见的肠外肿瘤,与散发性子宫内膜癌不同,该病是常染色体显性遗传病,病因及发病机制是错配修复基因(MLH1、MSH2、MSH6及PMS2)的突变或异常表达。患者发病年龄年轻,病理类型多样,包括子宫内膜样癌、透明细胞癌、浆液性癌、未分化癌或癌肉瘤等。由于该病再次发生肿瘤的风险较高,危害大,因此及时治疗Lynch综合征相关的子宫内膜癌是有效预防该类患者再次发生肿瘤的关键。就Lynch综合征相关子宫内膜癌的病因、发病机制、临床病理特征及诊断、治疗和筛查新进展进行综述。 相似文献
13.
Endometrial adenocarcinoma: genetic analysis suggesting heritable site-specific uterine cancer. 总被引:2,自引:0,他引:2
L G Sandles L P Shulman S Elias G J Photopulos L M Smiley W M Posten J L Simpson 《Gynecologic oncology》1992,47(2):167-171
Genetic factors are clearly integral to the etiology of neoplasia. A cancer family syndrome (Lynch syndrome II) consisting of uterine, colon, and ovarian cancer is recognized, but the heritability of isolated endometrial adenocarcinoma has not otherwise been thoroughly investigated. We have performed pedigree studies in index cases with endometrial adenocarcinoma, using spouses as controls. Preliminary results from 64 probands showed four families in which endometrial adenocarcinoma was diagnosed in at least one first-degree relative of the proband (mother, daughter, sister); none showed relatives with colon or ovarian cancer. In none of the 34 control pedigrees did either a mother or sister have endometrial adenocarcinoma. In four other families, multiple first- and second-degree relatives of probands had adenocarcinoma of the uterus, colon, or ovary, presumably representing a cancer family syndrome (Lynch syndrome II). Conclusion: Our preliminary data not only show familial and probably heritable tendencies for endometrial adenocarcinoma, but further suggest that there are at least two distinct forms: (1) the previously described Lynch syndrome II (cancer family syndrome), and (2) a heretofore unemphasized entity characterized by a tendency to endometrial adenocarcinoma alone. 相似文献
14.
Banno K Susumu N Hirao T Yanokura M Hirasawa A Aoki D Udagawa Y Sugano K Nozawa S 《The journal of obstetrics and gynaecology research》2004,30(4):287-292
Hereditary non-polyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominantly inherited disorder of cancer susceptibility. Patients with HNPCC exhibit an increased risk for HNPCC-associated extracolonic tumors such as cancer of the endometrium. HNPCC is associated with germline mutations in DNA mismatch repair (MMR) genes: hMLH1, hMSH2 and hMSH6. Here, we describe two Japanese kindreds (0.5%) who met the new clinical criteria for HNPCC, Amsterdam criteria II, from among 375 endometrial cancer patients treated at Keio University Hospital from 1990 to 2002. From these results, it was found that female HNPCC patients comprised approximately 0.5% of all endometrial cancer patients. Decreased expression of two MMR gene protein products (hMLH1 and hMSH6) was confirmed immunohistochemically in these two endometrial tumors in HNPCC kindreds. This case report provides important information on Japanese HNPCC patients occurring endometrial cancer. 相似文献
15.
Dorais J Dodson M Calvert J Mize B Travarelli JM Jasperson K Peterson CM Soisson AP 《Obstetrical & gynecological survey》2011,66(7):443-451
Approximately 15% of patients with endometrial cancer are premenopausal. Previous studies largely support the conservative treatment of endometrial cancer in women desiring future fertility. From these studies, 75% to 80% of patients demonstrate a complete response to progestin therapy and the average recurrence rate is 30% to 35%. Conservative therapy should be reserved for women with International Federation of Gynecology and Obstetrics grade I tumors. Before conservative management, patients should be informed of the elevated risk (11%-29%) of concurrent ovarian cancer in cases of premenopausal endometrial cancer, and screening and ongoing surveillance during the treatment period is mandatory. A suggestion of myometrial invasion or metastatic disease is a contraindication to conservative management. Individuals meeting criteria for Lynch syndrome testing should be referred to genetic counseling. Fertility treatment should be individualized, and close surveillance is required during treatment. Staging hysterectomy is recommended after the completion of the childbearing period. Target Audience: Obstetricians & Gynecologists, Family Physicians Learning Objectives: After participating in this activity, physicians should be better able to select appropriate candidates with endometrial cancer for fertility-sparing treatment. Educate patients with endometrial cancer regarding the risks and benefits of standard of care therapy and conservative therapy and screen appropriate patients for Lynch syndrome. 相似文献
16.
林奇综合征(Lynch syndrome,LS)是一种常染色体显性肿瘤综合征,是由DNA错配修复(MMR)基因中的一个胚系突变使细胞具有高微卫星不稳定表型(MSI-H)的超突变或缺乏MMR蛋白表达从而引起肿瘤的发生。突变携带者具有罹患结直肠癌、子宫内膜癌和卵巢癌等一系列恶性肿瘤的高风险。虽然LS中最常见的是结直肠癌,但约有60%的LS首发癌为妇科恶性肿瘤(如子宫内膜癌、卵巢癌等),且其被诊断年龄较早、组织病理学大多为子宫内膜样或非浆液性类型、总体存活率良好。因此及时发现LS相关卵巢癌(LSAOC)这一亚类,对于预防LS患者其他肿瘤的发生,提高LS患者的生存率具有重要意义。目前关于LS的发病机制、组织病理学等方面不断有新的探索,现就LSAOC的早期诊断、组织病理学、筛查及降低风险方案的最新进展进行综述。 相似文献
17.
Characteristic genetic aberration can be identified in hereditary as well as in sporadic ovarian cancer (OC). Whole genome sequencing revolutionizes the discovery of gene mutations. Goals of such endeavors are personalized cancer risk assessment and therapy. Forty to 50 mutations or aberrations are found in an ovarian cancer; only 2 to eight are“driver mutations” conveying a selective growth advantage. Less aggressive type-1 OC contain mutations in KRAS, BRAF and PIK3CA, type-2 OC carry p53 and BRCA1/2 mutations with high frequency. Hereditary OC are associated with germ-line mutations in BRCA1/2 causing the hereditary breast and ovarian cancer syndrome, in mismatch repair genes in Lynch syndrome or in p53 in the Li-Fraumeni syndrome 1. For individual OC risk assessment, computer models can be used based on family history, germ-line mutations and DNA variations. 相似文献
18.
Matthews KS Estes JM Conner MG Manne U Whitworth JM Huh WK Alvarez RD Straughn JM Barnes MN Rocconi RP 《Obstetrics and gynecology》2008,111(5):1161-1166
OBJECTIVE: To estimate the frequency of mismatch repair deficiencies associated with hereditary nonpolyposis colorectal cancer, or Lynch syndrome, in women less than age 50 with endometrial cancer. METHODS: Consecutive patients less than age 50 diagnosed with endometrial adenocarcinoma were identified. Available pathologic specimens were freshly sliced, and protein expression for MLH1, MSH2, MSH6, and PMS2 was evaluated by immunohistochemistry. Slides were scored on a semiquantitative method with complete absence of any of the four proteins suggesting a deficiency. All results were confirmed by microsatellite instability testing. RESULTS: Sixty-one pathology specimens were analyzed. Twenty-one (34%) of the tumors had absence of staining of at least one of the four mismatch repair proteins determined by immunohistochemistry and confirmed by microsatellite instability testing. Obese patients were less likely than nonobese patients to have a mismatch repair deficiency (21% versus 59%, respectively). Non-obese patients had a relative risk for a mismatch repair deficiency of 5.5 (95% confidence interval 1.6-19.1; P=.01). CONCLUSION: Many women diagnosed with endometrial cancer before age 50 will have a mismatch repair deficiency discovered by immunohistochemistry and microsatellite instability testing. A number of young women diagnosed with endometrial cancer will require further genetic testing for mismatch repair mutations. LEVEL OF EVIDENCE: III. 相似文献
19.
Successful pregnancy after hysteroscopic removal of grade I endometrial carcinoma in a young woman with Lynch syndrome 总被引:2,自引:0,他引:2
V. PARAC B. UJEVI M. UJEVI† Z. PAGON-BELINA‡ & U. MARTON 《International journal of gynecological cancer》2006,16(S1):442-445
Abstract. Šparac V, Ujević B, Ujević M, Pagon-Belina Z, Marton U. Successful pregnancy after hysteroscopic removal of grade I endometrial carcinoma in a young woman with Lynch syndrome. Int J Gynecol Cancer 2006; 16(Suppl. 1): 442–445.
In a woman at the age of 30, carcinoma of the endometrium was diagnosed after hysteroscopic polypectomy. Her family history fulfilled Bethesda diagnostic criteria for Lynch syndrome or hereditary nonpolyposis colon cancer. Conservative treatment was chosen based on the tumor grade, her age, and her desire for pregnancy. Three months after high-dose progesterone treatment successful conception was achieved. In this report, we suggest that individual approach should be considered in young women with low-grade endometrial carcinoma, positive family history, and unfulfilled motherhood. 相似文献
In a woman at the age of 30, carcinoma of the endometrium was diagnosed after hysteroscopic polypectomy. Her family history fulfilled Bethesda diagnostic criteria for Lynch syndrome or hereditary nonpolyposis colon cancer. Conservative treatment was chosen based on the tumor grade, her age, and her desire for pregnancy. Three months after high-dose progesterone treatment successful conception was achieved. In this report, we suggest that individual approach should be considered in young women with low-grade endometrial carcinoma, positive family history, and unfulfilled motherhood. 相似文献
20.
Bandera CA 《The Journal of reproductive medicine》2005,50(6):399-406
The identification of risk factors for ovarian cancer is central to the goal of preventing deaths from this disease. Reproductive and hormonal history clearly modulate the risk of ovarian cancer. Continuous ovulation associated with nulliparity increases the likelihood of ovarian malignancy. Protective factors include conditions that suspend ovulation, such as pregnancy, lactation and oral contraceptive use. Hereditary syndromes account for 10% of ovarian cancer cases. The breast ovarian cancer syndrome is caused by mutations in the BRCA1 and BRCA2 genes and is associated with an 11-40% risk of developing ovarian cancer. The hereditary nonpolyposis colorectal cancer syndrome (HNPCC, or Lynch II) is caused by mutations in DNA mismatch repair genes and carries a 12% risk of ovarian cancer. Due to a lack of adequate screening techniques, women with BRCA1, BRCA2 or HNPCC mutations should consider prophylactic removal of the ovaries and fallopian tubes when childbearing is complete. Genetic polymorphisms are hereditary genetic variations that may act in concert with other genetic, hormonal or environmental factors to potentiate the risk of ovarian cancer. Finally, ovarian cancer risk is altered by environmental and behavioral factors. Further study of the risk factors for ovarian cancer is needed to develop effective preventive strategies. 相似文献