Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome

Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E.; Thull, Darcy L.; Bahary, Nathan; Nikiforova, Marina N.; Pai, Reetesh K.

doi:10.1016/j.humpath.2015.06.022

Cited by 57 publications

(67 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In contrast, the precursor lesion associated with LS is a tubular adenoma. A recent study by Mas-Moya et al [44] demonstrated that when compared to LS, Lynch-like syndrome is more likely to occur in the right colon (a subset of LS tumors occurs at left colon [45]), more often identified in patients with tumors that harbor concurrent MLH1/PMS2 loss (with lack of MLH1 promoter hypermethylation) or concurrent MSH2/MSH6 loss, and less likely to have synchronous or metachronous LS-associated cancers.…”

Section: Main Textmentioning

confidence: 99%

Molecular genetics of microsatellite-unstable colorectal cancer for pathologists

2017

View full text Add to dashboard Cite

BackgroundMicrosatellite-unstable colorectal cancers (CRC) that are due to deficient DNA mismatch repair (dMMR) represent approximately 15% of all CRCs in the United States. These microsatellite-unstable CRCs represent a heterogenous group of diseases with distinct oncogenesis pathways. There are overlapping clinicopathologic features between some of these groups, but many important differences are present. Therefore, determination of the etiology for the dMMR is vital for proper patient management and follow-up.Main bodyEpigenetic inactivation of MLH1 MMR gene (sporadic microsatellite-unstable CRC) and germline mutation in an MMR gene (Lynch syndrome, LS) are the two most common mechanisms in the pathogenesis of microsatellite instability in CRC. However, in a subset of dMMR CRC cases that are identified by screening tests, no known LS-associated genetic alterations are appreciated by current genetic analysis. When the etiology for dMMR is unclear, it leads to patient anxiety and creates challenges for clinical management.ConclusionIt is critical to distinguish LS patients from other patients with tumors due to dMMR, so that the proper screening protocol can be employed for the patients and their families, with the goal to save lives while avoiding unnecessary anxiety and costs. This review summarizes the major pathogenesis pathways of dMMR CRCs, their clinicopathologic features, and practical screening suggestions. In addition, we include frequently asked questions for MMR immunohistochemistry interpretation.

show abstract

Section: Main Textmentioning

confidence: 99%

Molecular genetics of microsatellite-unstable colorectal cancer for pathologists

2017

View full text Add to dashboard Cite

show abstract

“…The majority of those with Lynch-like syndrome had CRC in the right colon (93%) when compared to those with Lynch syndrome (45%). In this regard, out of all patients with left-sided or rectal adenocarcinoma, 96% (23/24) demonstrated germline mutations (defined as Lynch syndrome) (29).…”

Section: Lynch-like Syndromementioning

confidence: 99%

“…Buchanan et al described family histories of Lynch-like syndrome patients with high incidence of metachronous and synchronous CRC and fulfillment of AC (28). On the other hand, Mas-Moya and colleagues identified significant differences between patients with Lynch-like syndrome and those with Lynch syndrome (29). The majority of those with Lynch-like syndrome had CRC in the right colon (93%) when compared to those with Lynch syndrome (45%).…”

Section: Lynch-like Syndromementioning

confidence: 99%

Update on Hereditary Colorectal Cancer

Silva

Wernhoff

Dominguez-Barrera

et al. 2016

View full text Add to dashboard Cite

“…An Asian study showed that 4.7% patients were identified to have Lynch‐like syndrome among 360 women with EC . There are no significant clinicopathologic differences between Lynch‐like syndrome and LS, except that Lynch‐like syndrome patients are less likely to have LS‐associated cancers . Sporadic EC (also known as epigenetic endometrial carcinoma) is composed of 2 subtypes: one is IHC with loss of MMR protein expression and the other is IHC with intact MLH1 and PMS2 expression and positive testing for MLH1 methylation.…”

Section: Testing For Lynch Syndromementioning

confidence: 99%

The practice of universal screening for Lynch syndrome in newly diagnosed endometrial carcinoma

Wang

McCracken

et al. 2018

Health Science Reports

View full text Add to dashboard Cite

BackgroundLynch syndrome (LS) accounts for 5% of all endometrial cancer (EC) cases and 4% of all lifetime risk of developing colorectal cancer. While current guidelines recommend LS screening for all patients with newly diagnosed colorectal cancer, there is no such guideline for screening patients with EC.DiscussionThis review addresses LS screening and discusses algorithms for testing patients in the setting of newly diagnosed EC.ConclusionThe successful diagnosis of LS has important implications, including prevention of LS‐associated cancers among relatives and immunotherapy recommendations for patients with advanced EC and loss of expression of mismatch repair immunohistochemistry and microsatellite instability positive following failure of traditional treatment.

show abstract

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome

Cited by 57 publications

References 26 publications

Molecular genetics of microsatellite-unstable colorectal cancer for pathologists

Molecular genetics of microsatellite-unstable colorectal cancer for pathologists

Update on Hereditary Colorectal Cancer

The practice of universal screening for Lynch syndrome in newly diagnosed endometrial carcinoma

Contact Info

Product

Resources

About