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Immunohistochemical expression pattern of MMR protein can specifically identify patients with colorectal cancer microsatellite instability.
Tumour Biol 2014; 35(7):6283-91TB

Abstract

The microsatellite instability (MSI) pathway is found in most cases of hereditary nonpolyposis colorectal cancer (HNPCC) and in 12 % of sporadic colorectal cancer (CRC). It involves inactivation of deoxyribonucleic acid mismatch repair (MMR) genes MLH1, MSH2, PMS2, and MSH6. MMR germline mutation detections are an important supplement to HNPCC clinical diagnosis. It enables at-risk and mutation-positive relatives to be informed about their cancer risks and to benefit from intensive surveillance programs that have been proven to reduce the incidence of CRC. In this study, we analyzed for the first time in Tunisia the potential value of immunohistochemical assessment of MMR protein to identify microsatellite instability in CRC. We evaluate by immunohistochemistry MMR protein expression loss in tumoral tissue compared to positive expression in normal mucosa. Immunohistochemistry revealed loss of expression for MLH1, MSH2, MSH6, and PMS2 in 15, 21, 13, and 15 % of cases, respectively. Here, we report a more elevated frequency of MSI compared to data of the literature. In fact, by immunohistochemistry, 70 % of cases were shown to be MSS phenotype, whereas 30 % of cases, in our set, were instable. Moreover, according to molecular investigation, 71 % of cases were instable (MSI-H) and remaining cases were stable (29 %). Thus, we found a perfect association between MMR immunohistochemical analyses and MSI molecular investigation. Immunohistochemical analysis of MMR gene product expression may allow one to specifically identify MSI phenotype of patients with colorectal carcinomas.

Authors+Show Affiliations

Department of Pathology, Charles Nicolle Hospital, Tunis, Tunisia, arfaouiamira@hotmail.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24643686

Citation

Amira, Arfaoui Toumi, et al. "Immunohistochemical Expression Pattern of MMR Protein Can Specifically Identify Patients With Colorectal Cancer Microsatellite Instability." Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, vol. 35, no. 7, 2014, pp. 6283-91.
Amira AT, Mouna T, Ahlem B, et al. Immunohistochemical expression pattern of MMR protein can specifically identify patients with colorectal cancer microsatellite instability. Tumour Biol. 2014;35(7):6283-91.
Amira, A. T., Mouna, T., Ahlem, B., Raoudha, A., Majid, B. H., Amel, H., ... Nadia, K. (2014). Immunohistochemical expression pattern of MMR protein can specifically identify patients with colorectal cancer microsatellite instability. Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 35(7), pp. 6283-91. doi:10.1007/s13277-014-1831-2.
Amira AT, et al. Immunohistochemical Expression Pattern of MMR Protein Can Specifically Identify Patients With Colorectal Cancer Microsatellite Instability. Tumour Biol. 2014;35(7):6283-91. PubMed PMID: 24643686.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Immunohistochemical expression pattern of MMR protein can specifically identify patients with colorectal cancer microsatellite instability. AU - Amira,Arfaoui Toumi, AU - Mouna,Trabelsi, AU - Ahlem,Blel, AU - Raoudha,Aloui, AU - Majid,Ben Hmida, AU - Amel,Hamza, AU - Rachida,Zermani, AU - Nadia,Kourdaa, Y1 - 2014/03/19/ PY - 2014/01/10/received PY - 2014/03/05/accepted PY - 2014/3/20/entrez PY - 2014/3/20/pubmed PY - 2014/10/7/medline SP - 6283 EP - 91 JF - Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine JO - Tumour Biol. VL - 35 IS - 7 N2 - The microsatellite instability (MSI) pathway is found in most cases of hereditary nonpolyposis colorectal cancer (HNPCC) and in 12 % of sporadic colorectal cancer (CRC). It involves inactivation of deoxyribonucleic acid mismatch repair (MMR) genes MLH1, MSH2, PMS2, and MSH6. MMR germline mutation detections are an important supplement to HNPCC clinical diagnosis. It enables at-risk and mutation-positive relatives to be informed about their cancer risks and to benefit from intensive surveillance programs that have been proven to reduce the incidence of CRC. In this study, we analyzed for the first time in Tunisia the potential value of immunohistochemical assessment of MMR protein to identify microsatellite instability in CRC. We evaluate by immunohistochemistry MMR protein expression loss in tumoral tissue compared to positive expression in normal mucosa. Immunohistochemistry revealed loss of expression for MLH1, MSH2, MSH6, and PMS2 in 15, 21, 13, and 15 % of cases, respectively. Here, we report a more elevated frequency of MSI compared to data of the literature. In fact, by immunohistochemistry, 70 % of cases were shown to be MSS phenotype, whereas 30 % of cases, in our set, were instable. Moreover, according to molecular investigation, 71 % of cases were instable (MSI-H) and remaining cases were stable (29 %). Thus, we found a perfect association between MMR immunohistochemical analyses and MSI molecular investigation. Immunohistochemical analysis of MMR gene product expression may allow one to specifically identify MSI phenotype of patients with colorectal carcinomas. SN - 1423-0380 UR - https://www.unboundmedicine.com/medline/citation/24643686/Immunohistochemical_expression_pattern_of_MMR_protein_can_specifically_identify_patients_with_colorectal_cancer_microsatellite_instability_ L2 - https://link.springer.com/article/10.1007/s13277-014-1831-2 DB - PRIME DP - Unbound Medicine ER -