Initially, two clinical syndromes were described. Dove-Edwin et al[35] reported that pelvic ultrasound failed to detect ovarian cancer. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA, Timeline of Article Publication Processes (2), http://creativecommons.org/licenses/by-nc/4.0/, https://www.wjgnet.com/2218-6220/full/v5/i4/218.htm, https://dx.doi.org/10.5317/wjog.v5.i4.218, Guidelines for Manuscript Type and Related Ethics Documents, Guidelines for the Manuscript Publishing Process, Language Editing Process for Manuscripts Submitted by Non-Native Speakers of English, Association of Learned and Professional Society Publishers (ALPSP), International Association of Scientific, Technical & Medical Publishers (STM), Open Access Scholarly Publishers Association (OASPA). Lynch syndrome is a genetic condition defined by a germline mutation of an MMR (MisMatch Repair) gene leading to a defective DNA MMR system. However, Turcot syndrome is no longer considered to be a distinct genetic syndrome. Screening is based on annual gynaecological examination, pelvic ultrasound, and endometrial biopsy. Preimplantation genetic diagnosis (PGD) is a medical procedure done in conjunction with in-vitro fertilization (IVF). The ultrasound was considered normal in the absence of polyp or abnormality with endometrial thickness less than 4 mm in postmenopausal women without hormone replacement treatment or 6 mm in other cases. Initially, only colorectal cancer were described: At least three relatives with colorectal cancer, one should be a first degree relative to the other two, at least two generations affected, at least one diagnosed before 50 and adenomatous polyposis should be excluded. Similarly, pelvic ultrasound associated with CA125 assay showed no evidence of ovarian cancer through screening[36,38], while Renkonen-Sinisalo et al[38] found 4 interval cancers. Clues to whether there is Lynch syndrome in a family include diagnoses of colorectal and/or endometrial cancer in multiple relatives on the same side of a family. The ERISCAM study (Estimation des Risques de Cancer chez les porteurs de mutation des gènes MMR), which is a prospective multicentre French cohort on patients with MMR gene mutation[7], found a cumulative risk of colorectal cancer at the age of 70 years of 31% for women, and 33% and 9% for endometrial cancer and ovarian cancer. Lynch syndrome is among the most common hereditary cancer syndromes, and estimates suggest as many as 1 in every 300 people may be carriers of an alteration in a gene associated with Lynch syndrome. A short phase of hyperplasia seems to precede cancer. Their respective proteins have the function to recognize DNA replication abnormalities, which occur during mitosis, and to perform excision and repair. 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 are at high risk of developing endometrial cancer, which is often also called ”sentinel” cancer, because it reveals the hereditary predisposition in 50% of cases. This type of brain tumor is a very aggressive form of astrocytoma that is commonly found in families who have features of Lynch syndrome. Lifetime risk for ovarian cancer in LS ranges between 9% and 12%, compared with 1.3% in the general population. However, monogenic cancer predisposition syndromes, such as familial adenomatous polyposis (FAP) and Lynch syndrome, are known to be responsible for a proportion of small bowel adenocarcinomas.2 While FAP, … There are several screening tests: pelvic ultrasound, endometrial biopsy and hysteroscopy for endometrial cancer; pelvic ultrasound and CA125 assay for ovarian cancer, but any of these tests has yet proved its effectiveness. At the age of 40 years, the estimated cumulative risk was 2%, regardless of the mutation. Our team has reported the feasibility of detection of microsatellite instability in washings of the uterine cavity in patients with endometrial cancer in the context of LS[46,47]. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation. A benign tumor means the tumor can grow but will not spread. Our team reported 62 women followed with hysteroscopy and endometrial biopsy at the same time. Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that is associated with a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. Women with LS are at high risk for cancer and represent an ideal population for cancer chemoprevention. The authors emphasized that hysteroscopy in gynaecological screening of LS is acceptable and has a high diagnostic accuracy for the detection of cancer and atypical endometrial hyperplasia[43]. People affected by LS have a higher risk of developing some types of cancer, including cancer of the: bowel; womb (endometrial cancer) ovary; stomach; pancreas; small bowel; ureter and renal pelvis. This includes pelvic ultrasound and endometrial biopsy, preferably by Pipelle de Cornier, at least every 2 years (INCA recommendations). The discovery of these genes, 15 years ago, has led to the identification of large numbers of affected families. These types of mutations are called acquired. N Engl J Med. Indeed, a short phase of hyperplasia seems to precede cancer and this transition is faster than in the general population. The rate at the age of 70 is 9%[3,4,6,14]. Lynch syndrome represents one of the most frequent conditions of cancer predisposition in human, thus requiring spe … MSI/MMR-deficient tumor diagnosis: Which standard for screening and for diagnosis? Surveillance techniques have not shown clinical benefits and potential problems of compliance, risk of false negative cases, and interval cancer associated with screening do justify offering prophylactic surgery to patients[34,50]. The 2 screening tests suggested are microsatellite instability testing (MSI) and immunohistochemistry testing (IHC). Nature … For endometrial cancer, the cumulative risk at the age of 70 years was 54% in case of MLH1 gene mutation, 21% in MSH2 mutation, and 16% in MSH6 mutation. Subsequently, these ones integrate other cancers of spectrum (Amsterdam criteria 2). Gynecologic screening appears interesting for the diagnosis of gynecological cancers in LS although screening tests have not proved clinical benefit until now. 3 We agree with de la Chapelle, et al. With an average age of 42 years, 75% of patients fulfilled the Amsterdam criteria II and 25% had hMLH1 or hMLH6 gene mutation. Ultrasound detected 2 cancers or atypical endometrial hyperplasia. For endometrial cancer, the cumulative risk at the age of 70 years was 54% in case of hMLH1 gene mutation, 21% in hMSH2 mutation, and 16% in hMSH6 mutation. The tumours are thus called “unstable” or MSI+. Four MMR genes have been identified: hMLH1, hMSH2, hMSH6 and PMS2[15-21]. Gynecologic screening appears interesting for the diagnosis of gynecological cancers in LS although screening tests have not proved clinical benefit until now. The sensitivity of this review is therefore 100% but with a specificity of only 55%. The INCa and ESMO recommends prophylactic surgery in women with an identified mutation or a significant risk of cancer, when they have no more desire of pregnancy[34]. The reasonable age to offer this surgery is probably in premenopausal women, i.e., 40-45 years, given the median age of endometrial and ovarian cancer reported in the ERISCAM study[7,34]. In 2015, the European Society for Medical Oncology (ESMO), the European SocieTy for Radiotherapy and Oncology (ESTRO) and European Society of Gynaecological Oncology (ESGO) proposed new guidelines[34]. Although the majority of endometrial carcinomas related to LS are type I cancers, the proportion of type II cancers seems to be higher than in the case of sporadic endometrial carcinoma. Caroline Cornou, MD, Department of Gynecologic Oncology, European Hospital Georges Pompidou, University of Paris Descartes, 20 rue Leblanc, 75015 Paris, France. A young age and an earlier stage could explain that these cancers have better prognosis than in general population[26]. Therefore, in 1997, the less stringent Bethesda Guidelines were developed. Because of this high risk of endometrial cancer, it is necessary to offer patients with LS gynecologic screening. In a published study of 210 patients with prophylactic surgery, no cases of endometrial cancer and ovarian cancer were recorded among women who did chose this option[53]. Forty-one patients received 69 annual screening visits. The French National Institute of Cancer (INCa) recommends screening of patient with LS starting at the age of 30 years. It is noteworthy that both cancers were symptomatic (bleeding)[37]. They emphasized the importance of ascertaining cancer of all anatomic sites as well as noncancer phenotypic stigmata in assessing a family cancer history to allow definition of the specific CRC syndrome concerned. The application of local progesterone using the LNG-IUD and the treatment of premalignant disease (Atypical Endometrial Hyperplasia, Endometrial Intraepithelial Neoplasia) are available options in patient at high risk of endometrial cancer[32,34]. If a tumor is found to have alterations in these genes, the person’s blood will also be tested for that abnormal gene. They compared six criteria for LS and found that immunohistochemistry in patient having at least one first degree relative with Lynch associated cancer, whatever the age was, is a cost effective strategy for detecting LS. Screening is recommended with annual gynecological examination, transvaginal ultrasound and endometrial biopsy with or without hysteroscopy until hysterectomy. Initially described by Whartin in 1913, Lynch proposed the first diagnostic criteria in 1966 made on the basis of a family’s cancer history[1]. Moreover, Watson et al[4] showed that MSH2 mutation had nearly twice the incidence rate compared to patients with MLH1 mutation. Fourteen cancers were diagnosed in the study: 11 by endometrial biopsy, 2 as interval cancer, respectively 3 and 31 mo after a normal screening, and 1 at the time of prophylactic hysterectomy. No cancer was detected and two interval cancers occurred. Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of … The young age at onset, tumour characteristics and high risk of developing cancer of LS related-endometrial cancers seem to justify a gynaecological screening in this population. Screening is based on several tests: pelvic ultrasound, endometrial biopsy and hysteroscopy for endometrial cancer, pelvic ultrasound and CA125 for ovarian cancer. No interval cancer occurred with a 22 mo follow-up. The benefit of gynaecological surveillance is unclear and there is no consensus in surveillance modality. Acceptability of gynaecological screening has been assessed and the patients report that transvaginal ultrasound examination is the most well tolerated, followed by hysterosonography, diagnostic hysteroscopy, and finally endometrial biopsy[51]. People who have Lynch syndrome have a significantly increased risk of developing colorectal cancer. However, not all families with Lynch syndrome will have an identifiable mutation in 1 of these genes. Colorectal cancer in 2 or more first- or second-degree relatives with another Lynch syndrome-related cancer*. (Please note that this link takes you to a separate ASCO website.). The newly synthesized DNA strand is abnormally long. The aim of this review was to describe the various forms of screening and the results in this population. Lynch syndrome is among the most common hereditary cancer syndromes, and estimates suggest as many as 1 in every 300 people may be carriers of an alteration in a gene associated with Lynch syndrome. General lifetime cancer risks for people with Lynch syndrome, Hepatobiliary tract cancer (liver/bile duct) 1% to 4%, Urinary tract (renal pelvis, ureter, bladder) cancer 1% to 18%, Brain or central nervous system tumor 1% to 3%, Cancer risks for women with Lynch syndrome.
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