Lynch syndrome in a 15-year-old boy

Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, dominantly inherited, is characterized by the development of a variety of cancers due to germline mutations in DNA mismatch repair genes (MMR). This syndrome was diagnosed in a 15-year-old boy because his father and grandmother we...

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Published inEuropean journal of pediatrics Vol. 167; no. 10; pp. 1213 - 1215
Main Authors Bodas, A., Pérez-Segura, P., Maluenda, C., Caldés, T., Olivera, E., Díaz-Rubio, E.
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer-Verlag 01.10.2008
Springer
Springer Nature B.V
Subjects
Adenosine Triphosphatases - genetics
Adolescent
Arabidopsis Proteins - genetics
Biological and medical sciences
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Repair Enzymes - genetics
DNA-Binding Proteins - genetics
Gastroenterology. Liver. Pancreas. Abdomen
General aspects
Humans
Male
Medical sciences
Medicine
Medicine & Public Health
Microsatellite Instability
Mismatch Repair Endonuclease PMS2
MutL Protein Homolog 1
MutS Homolog 2 Protein - genetics
Pediatrics
Pedigree
Short Report
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
Colorectal cancer
Microsatellite instability
Lynch syndrome
Human
Pediatrics
Hereditary nonpolyposis colorectal cancer
Rectal disease
Male
Malignant tumor
Genetic disease
Colonic disease
Microsatellite DNA
Digestive diseases
Intestinal disease
Instability
Child
Cancer
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Summary:Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, dominantly inherited, is characterized by the development of a variety of cancers due to germline mutations in DNA mismatch repair genes (MMR). This syndrome was diagnosed in a 15-year-old boy because his father and grandmother were also found to have the same kind of cancer. Microsatellite instability prompted a search for germline mutations in the MLH1, MSH2, MSH6, and PMS2 genes. Use of immunohistochemical staining for MMR proteins, genomic sequencing, and deletion studies, evidenced MSH2 axonal deletion. Neoplastic lesions of colon are most often encountered in the adult population but can, on rare occasions, be found in younger patients. We would like to emphasize the importance of suspecting Lynch syndrome and performing genetic studies, even in young patients, when there is a familiy history of colorectal cancer.
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ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-007-0650-5