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Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers.
Surgery. 2010 May; 147(5):720-8.S

Abstract

BACKGROUND

With progress in techniques of molecular biology, the phenotypes and genotypes for Lynch syndrome are more diverse than thought previously. This hospital-based study estimated the incidence and molecular and clinicopathologic features of Lynch syndrome to modify the screening criteria for Taiwanese patients with colorectal cancer (CRC).

METHODS

A total of 561 CRC patients were enrolled. DNA was extracted from neoplasms, normal mucosa, and/or white blood cells for analyses of microsatellite instability (MSI), BRAF mutation, MLH1 methylation, and sequencing of MMR genes. Immunohistochemistry (IHC) staining for MMR proteins was done for cases that fulfilled revised Bethesda criteria and for high-frequency microsatellite instability (MSI-H) neoplasms.

RESULTS

There were 136 (24.2%) and 10 (1.8%) cases that fulfilled the Revised Bethesda and Amsterdam II criteria (ACII), respectively. MSI-H was detected in 41 (7.3%), of which 32 showed abnormalities for > or = 1 MMR protein by IHC; low-frequency MSI (MSI-L) or microsatellite stable showed abnormal MSH2 staining in only 1 of 117 neoplasms. Thirteen (2.3%) cases had mutations in MMR genes with MLH1 (n = 10), MSH2 (n = 2), or MSH6 (n = 1). Of 13 Lynch syndrome cases, 3 (23.1%) and 11 (84.6%) fulfilled ACII and revised Bethesda criteria, respectively; 12 cases (93.3%) were MSI-H, and all had expression loss of > or = 1 MMR protein. Eight patients were >50 years old, 2 of whom did not fulfill revised Bethesda criteria. For MSI-H neoplasms without definite mutations, 72.4% and 44.8% showed MLH1 methylation and a BRAF (V599E) mutation, respectively. Lynch-associated CRC and sporadic MSI neoplasms shared similar clinicopathologic features.

CONCLUSION

In Taiwan, the incidence of Lynch syndrome was 2.3% among the 561 CRC patients evaluated. For Taiwanese CRC patients who are younger than age 60 whether or not fulfilling the Bethesda criteria should receive MSI or IHC screening for identification of the Lynch syndrome.

Authors+Show Affiliations

Division of Colon and Rectal Surgery, Department of Surgery, Taipei Veterans General Hospital, National Yang-Ming University, No 201, Section 2, Shih-Pai Road, Taipei 11217, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

20045164

Citation

Chang, Shih-Ching, et al. "Taiwan Hospital-based Detection of Lynch Syndrome Distinguishes 2 Types of Microsatellite Instabilities in Colorectal Cancers." Surgery, vol. 147, no. 5, 2010, pp. 720-8.
Chang SC, Lin PC, Yang SH, et al. Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers. Surgery. 2010;147(5):720-8.
Chang, S. C., Lin, P. C., Yang, S. H., Wang, H. S., Liang, W. Y., & Lin, J. K. (2010). Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers. Surgery, 147(5), 720-8. https://doi.org/10.1016/j.surg.2009.10.069
Chang SC, et al. Taiwan Hospital-based Detection of Lynch Syndrome Distinguishes 2 Types of Microsatellite Instabilities in Colorectal Cancers. Surgery. 2010;147(5):720-8. PubMed PMID: 20045164.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers. AU - Chang,Shih-Ching, AU - Lin,Pei-Ching, AU - Yang,Shung-Haur, AU - Wang,Huann-Sheng, AU - Liang,Wen-Yih, AU - Lin,Jen-Kou, Y1 - 2009/12/31/ PY - 2009/06/11/received PY - 2009/10/30/accepted PY - 2010/1/5/entrez PY - 2010/1/5/pubmed PY - 2010/5/8/medline SP - 720 EP - 8 JF - Surgery JO - Surgery VL - 147 IS - 5 N2 - BACKGROUND: With progress in techniques of molecular biology, the phenotypes and genotypes for Lynch syndrome are more diverse than thought previously. This hospital-based study estimated the incidence and molecular and clinicopathologic features of Lynch syndrome to modify the screening criteria for Taiwanese patients with colorectal cancer (CRC). METHODS: A total of 561 CRC patients were enrolled. DNA was extracted from neoplasms, normal mucosa, and/or white blood cells for analyses of microsatellite instability (MSI), BRAF mutation, MLH1 methylation, and sequencing of MMR genes. Immunohistochemistry (IHC) staining for MMR proteins was done for cases that fulfilled revised Bethesda criteria and for high-frequency microsatellite instability (MSI-H) neoplasms. RESULTS: There were 136 (24.2%) and 10 (1.8%) cases that fulfilled the Revised Bethesda and Amsterdam II criteria (ACII), respectively. MSI-H was detected in 41 (7.3%), of which 32 showed abnormalities for > or = 1 MMR protein by IHC; low-frequency MSI (MSI-L) or microsatellite stable showed abnormal MSH2 staining in only 1 of 117 neoplasms. Thirteen (2.3%) cases had mutations in MMR genes with MLH1 (n = 10), MSH2 (n = 2), or MSH6 (n = 1). Of 13 Lynch syndrome cases, 3 (23.1%) and 11 (84.6%) fulfilled ACII and revised Bethesda criteria, respectively; 12 cases (93.3%) were MSI-H, and all had expression loss of > or = 1 MMR protein. Eight patients were >50 years old, 2 of whom did not fulfill revised Bethesda criteria. For MSI-H neoplasms without definite mutations, 72.4% and 44.8% showed MLH1 methylation and a BRAF (V599E) mutation, respectively. Lynch-associated CRC and sporadic MSI neoplasms shared similar clinicopathologic features. CONCLUSION: In Taiwan, the incidence of Lynch syndrome was 2.3% among the 561 CRC patients evaluated. For Taiwanese CRC patients who are younger than age 60 whether or not fulfilling the Bethesda criteria should receive MSI or IHC screening for identification of the Lynch syndrome. SN - 1532-7361 UR - https://www.unboundmedicine.com/medline/citation/20045164/Taiwan_hospital_based_detection_of_Lynch_syndrome_distinguishes_2_types_of_microsatellite_instabilities_in_colorectal_cancers_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0039-6060(09)00712-0 DB - PRIME DP - Unbound Medicine ER -