Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica

Background: Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application of clinical criteria. To increase the rate of identification of mutations, the use of molecular studies as Microsatellite Instability (MSI) and Im-munohistochemistry (IHC) in the tumor has been pr...

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Autores principales:	Wielandt,Ana María, Zárate,Alejandro J, Hurtado,Claudia, Orellana,Paulina, Álvarez,Karin, Pinto,Eliana, Contreras,Luis, Corvalán,Alejandro, Kronberg,Udo, López-Köstner,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2012
Materias:	Colorectal neoplasms hereditary non polyposis Lynch syndrome Microsatellite instability
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012000900005
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spelling	oai:scielo:S0034-988720120009000052013-01-02Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímicaWielandt,Ana MaríaZárate,Alejandro JHurtado,ClaudiaOrellana,PaulinaÁlvarez,KarinPinto,ElianaContreras,LuisCorvalán,AlejandroKronberg,UdoLópez-Köstner,Francisco Colorectal neoplasms hereditary non polyposis Lynch syndrome Microsatellite instability Background: Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application of clinical criteria. To increase the rate of identification of mutations, the use of molecular studies as Microsatellite Instability (MSI) and Im-munohistochemistry (IHC) in the tumor has been proposed. Aim: To demonstrate the usefulness of MSI and IHC in the detection of mutations in patients with LS. Material and Methods: From our Familial Colorectal Cancer Registry, families suspected of LS were selected according to Amsterdam or Bethesda clinical criteria. Screening of germline mutations of MLH1, MSH2 and MSH6 genes was performed. In addition, analysis of MSI and IHC were performed in colorectal tumors. Results: A total of 35 families were studied (19 met Amsterdam and 16 met Bethesda criteria). Twenty one families harbored a germline alteration in MLH1, MSH2 or MSH6 (18 Amsterdam and 3 Bethesda). In these families, eighteen different alterations were found, 15 of which were mutations and 3 corresponded to variants of uncertain pathogenicity. On the other hand, 80% of the tumors showed positive microsatellite instability (27 MSI-high and 1 MSI-low), and immunohistochemical testing showed that 77% of tumors had the loss of a protein. Correlation between results of tumor molecular studies and the finding of germline nucleotide change showed that IHC and MSI predicted mutations in 81 and 100% of patients, respectively. Conclusions: MSI and IHC can efficiently select patients with a high probability of carrying a mutation in DNA repair genes.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.140 n.9 20122012-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012000900005es10.4067/S0034-98872012000900005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Colorectal neoplasms hereditary non polyposis Lynch syndrome Microsatellite instability
spellingShingle	Colorectal neoplasms hereditary non polyposis Lynch syndrome Microsatellite instability Wielandt,Ana María Zárate,Alejandro J Hurtado,Claudia Orellana,Paulina Álvarez,Karin Pinto,Eliana Contreras,Luis Corvalán,Alejandro Kronberg,Udo López-Köstner,Francisco Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica
description	Background: Selection of patients with Lynch Syndrome (LS) for a genetic study involves the application of clinical criteria. To increase the rate of identification of mutations, the use of molecular studies as Microsatellite Instability (MSI) and Im-munohistochemistry (IHC) in the tumor has been proposed. Aim: To demonstrate the usefulness of MSI and IHC in the detection of mutations in patients with LS. Material and Methods: From our Familial Colorectal Cancer Registry, families suspected of LS were selected according to Amsterdam or Bethesda clinical criteria. Screening of germline mutations of MLH1, MSH2 and MSH6 genes was performed. In addition, analysis of MSI and IHC were performed in colorectal tumors. Results: A total of 35 families were studied (19 met Amsterdam and 16 met Bethesda criteria). Twenty one families harbored a germline alteration in MLH1, MSH2 or MSH6 (18 Amsterdam and 3 Bethesda). In these families, eighteen different alterations were found, 15 of which were mutations and 3 corresponded to variants of uncertain pathogenicity. On the other hand, 80% of the tumors showed positive microsatellite instability (27 MSI-high and 1 MSI-low), and immunohistochemical testing showed that 77% of tumors had the loss of a protein. Correlation between results of tumor molecular studies and the finding of germline nucleotide change showed that IHC and MSI predicted mutations in 81 and 100% of patients, respectively. Conclusions: MSI and IHC can efficiently select patients with a high probability of carrying a mutation in DNA repair genes.
author	Wielandt,Ana María Zárate,Alejandro J Hurtado,Claudia Orellana,Paulina Álvarez,Karin Pinto,Eliana Contreras,Luis Corvalán,Alejandro Kronberg,Udo López-Köstner,Francisco
author_facet	Wielandt,Ana María Zárate,Alejandro J Hurtado,Claudia Orellana,Paulina Álvarez,Karin Pinto,Eliana Contreras,Luis Corvalán,Alejandro Kronberg,Udo López-Köstner,Francisco
author_sort	Wielandt,Ana María
title	Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica
title_short	Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica
title_full	Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica
title_fullStr	Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica
title_full_unstemmed	Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica
title_sort	síndrome de lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica
publisher	Sociedad Médica de Santiago
publishDate	2012
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012000900005
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Síndrome de Lynch: selección de pacientes para el estudio genético mediante análisis de inestabilidad microsatelital e inmunohistoquímica

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