Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome

Usha, Lydia; Dewdney, Summer B.; Buckingham, Lela

doi:10.1001/jama.2016.8286

Cited by 6 publications

(14 citation statements)

References 7 publications

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“…These methods are based on tumor specimens from invasive biopsy or surgical excision. Additionally, even though MSI screening is recommended for EC patients, it is rarely used in routine clinical practice due to its high cost and dependence on technology, such as sufficient tissue samples and the lengthy process of ordering the test ( 9 , 10 ). Therefore, it is vital to find a noninvasive, interpretable, and easy-to-use method to assess the MSI status in patients with EC.…”

Section: Introductionmentioning

confidence: 99%

The value of magnetic resonance imaging-based tumor shape features for assessing microsatellite instability status in endometrial cancer

Xu¹,

Zhang²,

Huang³

et al. 2022

Quant Imaging Med Surg

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Background: Microsatellite instability (MSI) status can be used for the classification and risk stratification of endometrial cancer (EC). This study aimed to investigate whether magnetic resonance imaging (MRI)based tumor shape features can help assess MSI status in EC before surgery. Methods:The medical records of 88 EC patients with MSI status were retrospectively reviewed.Quantitative and subjective shape features based on MRI were used to assess MSI status. Variables were compared using the Student's t-test, χ 2 test, or Wilcoxon rank-sum test where appropriate. Univariate and multivariate analyses were performed by the logistic regression model. The area under the curve (AUC) was used to estimate the discrimination performance of variables.Results: There were 23 patients with MSI, and 65 patients with microsatellite stability (MSS) in this study.Eccentricity and shape type showed significant differences between MSI and MSS (P=0.039 and P=0.033, respectively). The AUC values of eccentricity, shape type, and the combination of 2 features for assessing MSI were 0.662 [95% confidence interval (CI): 0.554-0.770], 0.627 (95% CI: 0.512-0.743), and 0.727 (95% CI: 0.613-0.842), respectively. Considering the International Federation of Gynecology and Obstetrics (FIGO) staging, eccentricity maintained a significant difference in stages I-II (P=0.039), while there was no statistical difference in stages III-IV (P=0.601).Conclusions: It is possible that MRI-based tumor shape features, including eccentricity and shape type, could be promising markers for assessing MSI status. The features may aid in the preliminary screening of EC patients with MSI.

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Section: Introductionmentioning

confidence: 99%

The value of magnetic resonance imaging-based tumor shape features for assessing microsatellite instability status in endometrial cancer

Xu¹,

Zhang²,

Huang³

et al. 2022

Quant Imaging Med Surg

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“…Finally, a cost-effectiveness analysis is lacking due to the limited sample size. In the present study, the costs of molecular screening methods and NGS were much lower than previously reported [20, 43]. A comprehensive analysis of cost-effectiveness would aid in optimizing screening strategies for LS [44, 45].…”

Section: Discussionmentioning

confidence: 72%

Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China

Chao

et al. 2019

Cancer Communications

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Background The prevalence of Lynch syndrome and screening strategies for this disorder in Chinese patients with endometrial cancer have seldom been investigated. Such data would be essential for the screening, prevention, genetic counseling, and treatment of Lynch syndrome. The purpose of this prospective study was to determine the accuracy of the mismatch repair (MMR) protein immunohistochemistry (IHC), microsatellite instability (MSI) test, and clinical diagnostic criteria in screening for Lynch syndrome-associated endometrial cancer (LS-EC) in a prospective Chinese cohort. Methods All patients with newly diagnosed endometrial cancer (EC) were evaluated using clinical diagnostic criteria (Amsterdam II criteria and the revised Bethesda guidelines), MSI test, and IHC of MMR proteins in tumor tissues. For all patients, the screening results were compared with results of germline sequencing for pathogenic variants of MMR genes. Results Between December 2017 and August 2018, a total of 111 unselected patients with newly diagnosed EC were enrolled. Six patients (5.4%) harbored a pathogenic germline mutation of MMR genes: 1 had a mutation in MutL homolog 1 ( MLH1 ), 2 in MutS homolog 2 ( MSH2 ), and 3 in MutS homolog 6 ( MSH6 ). The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for identifying LS-EC were 33.3%, 88.6%, 14.3%, and 95.9%, for the clinical criteria, 66.7%, 75.0%, 14.3%, and 97.3% for IHC of MMR proteins, 100%, 89.9%, 33.3%, and 100% for MSI test, and 100%, 72.4%, 20.0% and 100% for combined IHC and MSI test, respectively. The combination of IHC and MSI test had higher sensitivity and PPV than the clinical criteria ( p = 0.030). MSI test and IHC were highly concordant for LS-EC screening (73/77, 94.8%). Conclusion The accuracy of the combination of IHC of MMR proteins and MSI test for screening LS among Chinese patients with EC was superior to that of the clinical criteria. Trial registration NCT03291106. Registered on September 25, 2017

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“…In Lynch syndrome (formerly called hereditary non-polyposis colorectal cancer syndrome) hallmarks of mismatch repair gene mutations can be identified by immunohistochemistry (IHC) (83% sensitivity; 89% specificity) or microsatellite instability (high degrees of MSI have 77%-89% sensitivity and 90% specificity) [8]. But often tissue isn't available for such testing.…”

Section: Opinionmentioning

confidence: 99%

“…For example, BRCA 1/2 carriers can consider regular breast cancer screening with MRI in addition to mammography, early childbearing with prophylactic oophorectomy (especially the Fallopian tubes) and consideration of prophylactic mastectomy [7,15]. A shorter interval between colonoscopies is recommended for Lynch mutation carriers and hysterectomy may be useful after childbearing is no longer desired [8,16].…”

Section: Opinionmentioning

confidence: 99%

Unrecognized Familial Cancer Syndromes in Hospice Patients - A Precious, but Fleeting Opportunity for Recognition and Testing

Homler¹,

Smith²

2017

J Palliat Care Med

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Tumor Screening and DNA Testing in the Diagnosis of Lynch Syndrome

Cited by 6 publications

References 7 publications

The value of magnetic resonance imaging-based tumor shape features for assessing microsatellite instability status in endometrial cancer

The value of magnetic resonance imaging-based tumor shape features for assessing microsatellite instability status in endometrial cancer

Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China

Unrecognized Familial Cancer Syndromes in Hospice Patients - A Precious, but Fleeting Opportunity for Recognition and Testing

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