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 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 family history of colorectal cancer.
Bodas
A
A
Department of Pediatrics, Hospital Clínico San Carlos, Madrid, Spain. andresbpinedo@yahoo.es
Pérez-Segura
P
P
Maluenda
C
C
Caldés
T
T
Olivera
E
E
Díaz-Rubio
E
E
D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D029681:Arabidopsis Proteins / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D053842:Microsatellite Instability; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D010375:Pedigree
D000251:Adenosine Triphosphatases; D029681:Arabidopsis Proteins; D045643:DNA Repair Enzymes; D004268:DNA-Binding Proteins; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; C121985:AT4G02070 protein, Arabidopsis; C524390:MLH1 protein, Arabidopsis; C094934:PMS2 protein, human; C108984:MSH2 protein, Arabidopsis