The case of a familial Lynch syndrome is reported. The criteria for early diagnosis, management and surveillance are briefly reviewed. A germline mutation of genes responsible for mismatch repair is at the basis of the Lynch syndrome. Carriers are predisposed to colorectal cancer and other tumors. Two members of the presently reported family developed colorectal cancer, whereas two others developed other neoplasms. The syndrome was confirmed in members of the same family with appropriate genetic workup. Clinical examination and endoscopy were consequently scheduled once-a-year. Given the high risk of neoplastic disease, such yearly controls can be proposed as the standard follow-up of this condition --------------------------------------------------------------------------------
The Lynch syndrome: a management dilemma / Palumbo, Piergaspare; Amatucci, Chiara; Perotti, B.; Dezzi, Claudia; Girolami, Marco; Illuminati, Giulio; Angelici, Alberto Maria. - In: ANTICANCER RESEARCH. - ISSN 0250-7005. - STAMPA. - 33:5(2013), pp. 2147-2152.
The Lynch syndrome: a management dilemma.
PALUMBO, Piergaspare;AMATUCCI, CHIARA;B. Perotti;DEZZI, CLAUDIA;GIROLAMI, Marco;ILLUMINATI, Giulio;ANGELICI, Alberto Maria
2013
Abstract
The case of a familial Lynch syndrome is reported. The criteria for early diagnosis, management and surveillance are briefly reviewed. A germline mutation of genes responsible for mismatch repair is at the basis of the Lynch syndrome. Carriers are predisposed to colorectal cancer and other tumors. Two members of the presently reported family developed colorectal cancer, whereas two others developed other neoplasms. The syndrome was confirmed in members of the same family with appropriate genetic workup. Clinical examination and endoscopy were consequently scheduled once-a-year. Given the high risk of neoplastic disease, such yearly controls can be proposed as the standard follow-up of this condition --------------------------------------------------------------------------------I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.