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Lynch syndrome (HNPCC).

Kladny J, Lubinski J - Hered Cancer Clin Pract (2008)

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Affiliation: Department of General and Oncological Surgery, Pomeranian Medical University, Szczecin, Poland. jkladny@sci.pam.szczecin.pl

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Among the well known syndromes of inherited predisposition to tumours manifesting with CRC, syndromes showing a Mendelian pattern of inheritance include: hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome), familial adenomatous polyposis (FAP), Gardner, Turcot and Peutz-Jeghers syndromes, and juvenile polyposis... Characteristic clinical features of Lynch syndrome include: • early age of CRC diagnosis (about 45 years), • more frequent right side tumour localization, • two or more CRC cases among first degree relatives, • many syn- and meta-chronous CRC tumours, • occurrence of disease in consecutive generations (vertical transmission), • increased frequency of occurrence among relatives of cancers of the endometrium, small bowel and urinary tract... According to an international group of experts (the International Collaborative Group on HNPCC - ICG-HNPCC) Lynch syndrome can be definitively diagnosed if constitutional mutations within one of the genes connected with HNPCC, such as MSH2 or MLH1, is identified or if the following pedigree-clinical criteria are matched (Table 1)... Due to incomplete penetrance of genes, which is typical for dominant Mendelian disorders, deaths caused by various diseases, or due to difficulties in achieving full information about all relatives, a large proportion - perhaps the majority - of families with HNPCC cannot be diagnosed using the Amsterdam criteria summarized in Table 1... Therefore several authors use another type of criteria, fulfilment of which does not allow definitive diagnosis of HNPCC, but is useful in identifying of families with a highly increased risk of disease... Endoscopic polypectomy is recommended in the case of polyps which are benign and non-recurrent... However, in patients with adenomas that are multiple and/or recurrent and/or of a significant degree of dysplasia and/or villous, prophylactic colectomy should be considered... The high proportion of synchronous tumours (more than 15% of patients at the time of diagnosis) or metachronous tumours (about 45% during 10 years following surgery of the primary tumour) suggests that for preventive surgery as for surgery in patients from HNPCC families with histopathologically diagnosed CRC the following types of surgical treatment can be recommended : • proctocolectomy with ileostomy, • colectomy with ileo-rectal anastomosis, • proctocolectomy with ileo-anal "pouch" - S, J, W or H... However, such treatment is highly traumatising and frequently leads to urinary tract abnormalities and sexual dysfunction... Colectomy with ileorectal anastomosis does not lead to such complications but should be followed by frequent examinations due to the risk of cancer in the unresected fragment of bowel... Proctocoloctomy with ileo-anal "pouch" S, J, W or H is a method with a relatively short history so it is difficult to conclude about it definitely... Additionally, prospective studies have confirmed that due to appropriate management the lifetime risk of CRC decreases, from 80 to 30%, and there is a higher proportion of healing and longer survival time of patients with CRC from families with Lynch syndrome... Correct management applied in carriers of MSH2/MLH1 mutations means that such persons cannot die due to CRC.

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Family pedigree "suspected HNPCC".
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Figure 2: Family pedigree "suspected HNPCC".

Mentions: Examples of families matching the criteria of "suspected HNPCC" are presented in Figures 2, 3.


Lynch syndrome (HNPCC).

Kladny J, Lubinski J - Hered Cancer Clin Pract (2008)

Family pedigree "suspected HNPCC".
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2735811&req=5

Figure 2: Family pedigree "suspected HNPCC".
Mentions: Examples of families matching the criteria of "suspected HNPCC" are presented in Figures 2, 3.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of General and Oncological Surgery, Pomeranian Medical University, Szczecin, Poland. jkladny@sci.pam.szczecin.pl

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Among the well known syndromes of inherited predisposition to tumours manifesting with CRC, syndromes showing a Mendelian pattern of inheritance include: hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome), familial adenomatous polyposis (FAP), Gardner, Turcot and Peutz-Jeghers syndromes, and juvenile polyposis... Characteristic clinical features of Lynch syndrome include: • early age of CRC diagnosis (about 45 years), • more frequent right side tumour localization, • two or more CRC cases among first degree relatives, • many syn- and meta-chronous CRC tumours, • occurrence of disease in consecutive generations (vertical transmission), • increased frequency of occurrence among relatives of cancers of the endometrium, small bowel and urinary tract... According to an international group of experts (the International Collaborative Group on HNPCC - ICG-HNPCC) Lynch syndrome can be definitively diagnosed if constitutional mutations within one of the genes connected with HNPCC, such as MSH2 or MLH1, is identified or if the following pedigree-clinical criteria are matched (Table 1)... Due to incomplete penetrance of genes, which is typical for dominant Mendelian disorders, deaths caused by various diseases, or due to difficulties in achieving full information about all relatives, a large proportion - perhaps the majority - of families with HNPCC cannot be diagnosed using the Amsterdam criteria summarized in Table 1... Therefore several authors use another type of criteria, fulfilment of which does not allow definitive diagnosis of HNPCC, but is useful in identifying of families with a highly increased risk of disease... Endoscopic polypectomy is recommended in the case of polyps which are benign and non-recurrent... However, in patients with adenomas that are multiple and/or recurrent and/or of a significant degree of dysplasia and/or villous, prophylactic colectomy should be considered... The high proportion of synchronous tumours (more than 15% of patients at the time of diagnosis) or metachronous tumours (about 45% during 10 years following surgery of the primary tumour) suggests that for preventive surgery as for surgery in patients from HNPCC families with histopathologically diagnosed CRC the following types of surgical treatment can be recommended : • proctocolectomy with ileostomy, • colectomy with ileo-rectal anastomosis, • proctocolectomy with ileo-anal "pouch" - S, J, W or H... However, such treatment is highly traumatising and frequently leads to urinary tract abnormalities and sexual dysfunction... Colectomy with ileorectal anastomosis does not lead to such complications but should be followed by frequent examinations due to the risk of cancer in the unresected fragment of bowel... Proctocoloctomy with ileo-anal "pouch" S, J, W or H is a method with a relatively short history so it is difficult to conclude about it definitely... Additionally, prospective studies have confirmed that due to appropriate management the lifetime risk of CRC decreases, from 80 to 30%, and there is a higher proportion of healing and longer survival time of patients with CRC from families with Lynch syndrome... Correct management applied in carriers of MSH2/MLH1 mutations means that such persons cannot die due to CRC.

No MeSH data available.


Related in: MedlinePlus