Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer
| Autor: | Juan Manuel Rosa-Rosa, Tamara Caniego-Casas, Ignacio Ruz-Caracuel, Esther Moreno Moreno, José Palacios, Cristian Perna, Carmen Guillen |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Histology Case Report Biology MLH1 Pathology and Forensic Medicine Germline mutation lcsh:Pathology PMS2 medicine Humans neoplasms Aged Mismatch Repair Endonuclease PMS2 nutritional and metabolic diseases High-Throughput Nucleotide Sequencing Sequence Analysis DNA General Medicine medicine.disease Colorectal cancer Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases Lynch syndrome DNA-Binding Proteins MSH6 MSH2 NGS Mutation Mutation (genetic algorithm) Cancer research Female DNA mismatch repair Colorectal Neoplasms Mismatch repair deficiency lcsh:RB1-214 |
| Zdroj: | Diagnostic Pathology Diagnostic Pathology, Vol 15, Iss 1, Pp 1-6 (2020) |
| ISSN: | 1746-1596 |
| Popis: | Background Immunohistochemistry (IHQ) is commonly used for the detection of mismatch repair proteins deficiency (MMRD). One very infrequent abnormal pattern of MMR protein expression is the loss of PMS2 and MSH6, with intact expression of MLH1 and MSH2. Case presentation We review the frequency of this MMRD IHC pattern among 108 colorectal (CRCs) and 35 endometrial cancers in our files with loss of expression of at least one protein, and present two CRCs showing loss of PMS2 and MSH6 protein expression (1.9% of CRCs). NGS analysis of these tumours identified PMS2 mutations (R134* germline mutation in one tumour and M1R and c.1239delA somatic mutation in the other) as the primary event and somatic MSH6 mutation (c.3261dupC) as the secondary event in both tumours. Conclusions This study suggests that Next Generation Sequencing (NGS) tumour analysis should be considered in the algorithm of Lynch syndrome screening to detect MMR gen somatic mutation in inconclusive cases. |
| Databáze: | OpenAIRE |
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