Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: From the revised Bethesda guidelines to a universal approach

Morrison, Jane Gray; Bronner, Mary P.; Heald, Brandie; Downs‐Kelly, Erinn; Goldblum, John R.; Liu, Xiuli

doi:10.3109/00365521.2011.610003

Cited by 40 publications

(21 citation statements)

References 20 publications

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“…Even if screening was extended to patients older than 60 years of age, the prevalence of LS might be lower than expected in Japan, compared with a reported prevalence of LS of 0.5-13 % among CRC patients in Western countries [3,10,11]. In Japan, Furukawa et al [12] reported that mutations in MLH1 or MSH2 were identified in 8 These results suggested that the prevalence of LS differs depending on the country, or even the region within the country. Further investigation of the prevalence of LS according to the region will be important.…”

Section: Discussionmentioning

confidence: 76%

“…However, the application of only the rBG criteria is not sufficient for the selection of LS candidates. Several reports [16][17][18] have suggested that the problem with the rBG criteria is that candidates are limited to an age of younger than 50 years. Recent guidelines for LS screening, including the US Multi-Society Task Force on colorectal cancer [19], the ESMO Clinical Practice Guidelines [20], and the National Comprehensive Cancer Network [21], may overcome these problems and select suitable candidates using MSI testing or IHC prior to genetic testing.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, several reports [3,[6][7][8] have recommended the implementation of universal population screening for LS among all patients with newly diagnosed CRC. It is important to obtain a medical and family history from patients with suspected LS so that initial screening for AC II and rBG is performed.…”

Section: Introductionmentioning

confidence: 99%

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Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population

et al. 2015

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

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Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population

et al. 2015

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“…Between January 2004 and March 2009, MSI testing was performed on all primary, surgically resected CRCs in patients diagnosed at age less than 50 years, that were right-sided or displayed any MSI-high (MSI-H) histology, as previously described. 8 Any tumor that was MSI-low or MSI-H then underwent IHC. In April 2009, a universal screening approach was implemented, and all resected CRCs were screened either by MSI testing or IHC.…”

Section: Msi and Ihcmentioning

confidence: 99%

Implementation of Universal Microsatellite Instability and Immunohistochemistry Screening for Diagnosing Lynch Syndrome in a Large Academic Medical Center

Heald

Plesec

Liu

et al. 2013

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Purpose In 2009, the Evaluation of Genomic Applications in Practice and Prevention recommended that all colorectal cancers (CRCs) be screened for Lynch syndrome (LS) through microsatellite instability (MSI) or immunohistochemistry (IHC). No studies report how this process is implemented on a health system–wide basis. Methods Since 2004, Cleveland Clinic has screened CRC specimens with MSI/IHC. Between January 2004 and July 2007, MSI/IHC results went only to the colorectal surgeon (approach 1). Between August 2007 and June 2008, colorectal surgeons and a genetic counselor received the MSI/IHC results, and the counselor e-mailed the colorectal surgeon regarding appropriate patients for genetic counseling (GC) referral (approach 2). After July 2008, the colorectal surgeon and counselor received MSI/IHC results, but the counselor contacted the patient to facilitate referral (approach 3). In approaches 2 and 3, patients were presumed to have sporadic CRC if the tumor lacked MLH1 expression and was also BRAF mutated or if the patient was diagnosed at age greater than 72 years and had no cancer family history. Results Abnormal MSI/IHC results occurred in 178 (16%) of 1,108 patients. In approach 1, 21 (55%) of 38 patients with abnormal MSI/IHC were referred for GC, 12 (32%) of 38 underwent GC, and 10 (26%) of 38 underwent genetic testing (GT). In approach 2, nine (82%) of 11 patients were referred for GC, seven (64%) of 11 underwent GC, and five (45%) of 11 underwent GT. In approach 3, 56 (100%) of 56 patients were referred for GC, 40 (71%) of 56 underwent GC, and 37 (66%) of 56 underwent GT. Time from referral to GC was 10-fold quicker in approach 3 than approach 1. Conclusion Implementation of universal MSI/IHC with GC/GT, along with effective multidisciplinary communication and plans of responsibility for patient contact, resulted in increased identification of patients with LS.

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“…This was even more so when the personal and family history were not available to the pathologist [22,23].…”

Section: Discussionmentioning

confidence: 87%

Can a gastrointestinal pathologist identify microsatellite instability in colorectal cancer with reproducibility and a high degree of specificity?

Brazowski

Rozen

Pel³

et al. 2012

Familial Cancer

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Clinical features usually initiate evaluation for Lynch Syndrome (LS) but some colorectal cancer (CRC) histopathology findings are compatible with high microsatellite instability (MSI-H) that also occurs in LS. This led to the suggestion that pathologists request MSI analysis, which is an expensive addition to routine histology. We aimed to see if a Gastrointestinal Pathologist could identify MSI-H features with reproducibility and high (95%) specificity (MSI-H 95%). Histopathology of all CRCs received during 2005 and 4 MSI-H controls were scored using 2 published methods, "MsScore" and "PathScore". MSI analysis was performed on CRCs scored by either method as probable MSI-H 95% and results compared. To examine reproducibility of histopathology, 100 coded slides, including 25 scored MSI-H 95% and 75 scored low, were re-examined to now identify those needing MSI analysis. Costs were evaluated for identifying MSI-H with or without scoring. All 227 CRCs were scored for possible MSI-H 95%; 24 had high scores and MSI analysis. DNA analysis proved 14 MSI-H, PathScore identified 13 (95%), MsPath identified 9 (64%), histopathology alone identified 7 (50%). Reproducibility for identifying histopathology characteristics of MSI-H at re-examination, without scoring, was "moderate agreement" (Kappa statistic = 0.4615). Costs for identifying MSI-H by PathScore were the lowest, $436/identification. Conclusions; PathScore identified the most proven MSI-H CRCs at lowest cost and even an experienced gastrointestinal pathologist has difficulties identify MSI-H without scoring. So, scoring can be facilitated by a computerized evaluation form for routine CRC histology, prompting score computation and recommendation for MSI analysis with high specificity.

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Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: From the revised Bethesda guidelines to a universal approach

Cited by 40 publications

References 20 publications

Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population

Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population

Implementation of Universal Microsatellite Instability and Immunohistochemistry Screening for Diagnosing Lynch Syndrome in a Large Academic Medical Center

Can a gastrointestinal pathologist identify microsatellite instability in colorectal cancer with reproducibility and a high degree of specificity?

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