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Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome. 2022

Joana Alves da Silva, and Sérgio Castedo, and Isabel Pedroto, and Ricardo Marcos-Pinto
Gastroenterology, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Lynch Syndrome is characterized by phenotypic and genotypic heterogeneity. Despite scarce evidence, individuals with an EPCAM deletion appear to have a comparable risk of colorectal cancer (CRC) as MSH2 mutation carriers, but a lower risk of extracolonic cancer (such as endometrial cancer) unless the deletion extends close to the promoter of MSH2. A genotype-phenotype correlation is yet to be established for EPCAM alterations. In this report, we describe a family with EPCAM deletion characterized by a particularly aggressive phenotype and extracolonic cancer. We present a family with 5 members carrying an EPCAM deletion encompassing exons 8 and 9. Three female family members presented CRC at the ages of 32, 44 and 60 (mucinous moderately and well-differentiated adenocarcinoma); in two of them metachronous colon cancers and advanced adenomas were diagnosed in the intensive surveillance program. Two female patients (42 and 63 years-old) presented with gastric cancer (GC). Two patients presented with small bowel cancer at 51 and 60 years-old - the first one presented a metachronous jejunal cancer at 68 years. Only one family member was submitted to hemithyroidectomy due a right-lobe Hürthle cell carcinoma at 56 years-old. This report illustrates the existence of intrafamilial clinical heterogeneity among carriers of this EPCAM alteration, and hence the difficulty in predicting phenotype for EPCAM-associated Lynch syndrome.

UI MeSH Term Description Entries
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D003123 Colorectal Neoplasms, Hereditary Nonpolyposis A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. Colon Cancer, Familial Nonpolyposis, Type 1,Colorectal Cancer, Hereditary Nonpolyposis, Type 1,Familial Nonpolyposis Colon Cancer Type 1,Hereditary Nonpolyposis Colorectal Cancer,Hereditary Nonpolyposis Colorectal Cancer Type 1,Hereditary Nonpolyposis Colorectal Neoplasms,Lynch Syndrome,Colon Cancer, Familial Nonpolyposis,Colorectal Cancer Hereditary Nonpolyposis,Familial Nonpolyposis Colon Cancer,Hereditary Nonpolyposis Colon Cancer,Lynch Cancer Family Syndrome I,Lynch Syndrome I,Syndrome, Lynch
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071858 Epithelial Cell Adhesion Molecule A cell adhesion molecule that is expressed on the membranes of nearly all EPITHELIAL CELLS, especially at the junctions between intestinal epithelial cells and intraepithelial LYMPHOCYTES. It also is expressed on the surface of ADENOCARCINOMA and epithelial tumor cells. It may function in the MUCOSA through homophilic interactions to provide a barrier against infection. It also regulates the proliferation and differentiation of EMBRYONIC STEM CELLS. Antigen, CD326,CD326 Protein,ESA Antigen,Ep-CAM,EpCAM,Epithelial Specific Antigen,GA 733 Tumor-Associated Antigen,GA733 Antigen,GA733 Tumor-Associated Antigen,Tacstd1 Protein,Tumor-Associated Antigen GA733,Antigen, ESA,Antigen, Epithelial Specific,Antigen, GA733,CD326 Antigen,GA 733 Tumor Associated Antigen,GA733 Tumor Associated Antigen,GA733, Tumor-Associated Antigen,Tumor Associated Antigen GA733,Tumor-Associated Antigen, GA733
D000951 Antigens, Neoplasm Proteins, glycoprotein, or lipoprotein moieties on surfaces of tumor cells that are usually identified by monoclonal antibodies. Many of these are of either embryonic or viral origin. Neoplasm Antigens,Tumor Antigen,Tumor Antigens,Antigen, Tumor,Antigens, Tumor
D015815 Cell Adhesion Molecules Surface ligands, usually glycoproteins, that mediate cell-to-cell adhesion. Their functions include the assembly and interconnection of various vertebrate systems, as well as maintenance of tissue integration, wound healing, morphogenic movements, cellular migrations, and metastasis. Cell Adhesion Molecule,Intercellular Adhesion Molecule,Intercellular Adhesion Molecules,Leukocyte Adhesion Molecule,Leukocyte Adhesion Molecules,Saccharide-Mediated Cell Adhesion Molecules,Saccharide Mediated Cell Adhesion Molecules,Adhesion Molecule, Cell,Adhesion Molecule, Intercellular,Adhesion Molecule, Leukocyte,Adhesion Molecules, Cell,Adhesion Molecules, Intercellular,Adhesion Molecules, Leukocyte,Molecule, Cell Adhesion,Molecule, Intercellular Adhesion,Molecule, Leukocyte Adhesion,Molecules, Cell Adhesion,Molecules, Intercellular Adhesion,Molecules, Leukocyte Adhesion
D051718 MutS Homolog 2 Protein A highly conserved eukaryotic homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES. HNPCC Protein,HNPCC1 Protein
D018095 Germ-Line Mutation Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not. Mutation, Germ-Line,Germline Mutation,Germ Line Mutation,Germ-Line Mutations,Germline Mutations,Mutation, Germ Line,Mutation, Germline,Mutations, Germ-Line,Mutations, Germline

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