caa a22 4500 445331410 CHVBK 20180317142738.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10689-010-9416-8 doi (NATIONALLICENCE)springer-10.1007/s10689-010-9416-8 Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome [Elektronische Daten] [V. Medina-Arana, L. Delgado, L. González, A. Bravo, H. Díaz, E. Salido, D. Riverol, J. González-Aguilera, A. Fernández-Peralta] Lynch syndrome (LS) is an autosomal dominant condition that predisposes to colorectal cancer and specific other tumors. Extracolonic tumors occur mainly in the endometrium, stomach, ovary, small intestine and urinary tract. The presence of rare tumors in patients belonging to families who have Lynch syndrome is always interesting, because the question arises whether these tumors should be considered as a coincidence or are related with the syndrome. In this last case, they are also the result of the defect in the mismatch repair system, opening the possibility of extending the tumor spectrum associated with the syndrome. Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. We analyzed the adrenocortical tumour for microsatellite instability (MSI), LOH and the presence of the germline c.2063T>G (M688R) mutation. The adrenal cortical carcinoma showed the MSH2 mutation, loss of heterozygosity of the normal allele in the MSH2 gene and loss of immunohistochemical expression for MSH2 protein, but no microsatellite instability. Additionally, the adrenal cortical carcinoma did not harbour a TP53 mutation. The molecular study indicates that this adrenal cortical cancer is probably due to the mismatch repair defect. Springer Science+Business Media B.V., 2011 Adrenal cortical carcinoma nationallicence Lynch syndrome nationallicence MSH2 mutation nationallicence Tumor spectrum nationallicence CRC : Colorectal cancer nationallicence LOH : Loss of heterozygosity nationallicence MMR : Mismatch-repair nationallicence MRI : Magnetic resonance imaging nationallicence MSI : Microsatellite instability nationallicence PCR : Polymerase chain reaction nationallicence PET : Positron emissiont tomography nationallicence RFLP : Restriction fragment length polymorphism nationallicence SSCP : Single strand conformation polymorphism nationallicence Medina-Arana V. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut Delgado L. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut González L. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut Bravo A. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut Díaz H. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut Salido E. Unidad de Investigación, Hospital Universitario de Canarias, Centre for Biomedical Research on Rare Diseases (CIBERER), Tenerife, Spain aut Riverol D. Unidad de Investigación, Hospital Universitario de Canarias, Centre for Biomedical Research on Rare Diseases (CIBERER), Tenerife, Spain aut González-Aguilera J. Unidad de Genética. Dpto. Biología, Universidad Autónoma de Madrid. Cantoblanco, 28049, Madrid, Spain aut Fernández-Peralta A. Unidad de Genética. Dpto. Biología, Universidad Autónoma de Madrid. Cantoblanco, 28049, Madrid, Spain aut Familial Cancer Springer Netherlands 10/2(2011-06-01), 265-271 1389-9600 10:2<265 2011 10 10689 https://doi.org/10.1007/s10689-010-9416-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9416-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Medina-Arana V. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut NATIONALLICENCE 700 1- Delgado L. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut NATIONALLICENCE 700 1- González L. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut NATIONALLICENCE 700 1- Bravo A. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut NATIONALLICENCE 700 1- Díaz H. Servicio de Cirugía General y Digestiva, Hospital Universitario de Canarias, La Laguna, Tenerife, Spain aut NATIONALLICENCE 700 1- Salido E. Unidad de Investigación, Hospital Universitario de Canarias, Centre for Biomedical Research on Rare Diseases (CIBERER), Tenerife, Spain aut NATIONALLICENCE 700 1- Riverol D. Unidad de Investigación, Hospital Universitario de Canarias, Centre for Biomedical Research on Rare Diseases (CIBERER), Tenerife, Spain aut NATIONALLICENCE 700 1- González-Aguilera J. Unidad de Genética. Dpto. Biología, Universidad Autónoma de Madrid. Cantoblanco, 28049, Madrid, Spain aut NATIONALLICENCE 700 1- Fernández-Peralta A. Unidad de Genética. Dpto. Biología, Universidad Autónoma de Madrid. Cantoblanco, 28049, Madrid, Spain aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/2(2011-06-01), 265-271 1389-9600 10:2<265 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer