Familial colorectal cancer type X: polyp burden and cancer risk stratification via a family history score.

Abstract:

BACKGROUND:Patients fulfilling Amsterdam-1 criteria without mismatch repair deficiency (termed familial colorectal cancer type X (FCC type X)) were reported to have lower cancer risks than classic Lynch syndrome. This study investigates the polyp and cancer burden of this population and demonstrates relationships with a family history score (FHS). METHODS:The Jagelman Registry was queried for patients meeting Amsterdam criteria with microsatellite stable/low colorectal cancers. The risk of colorectal neoplasia was ascertained using a published FHS. Polyp distribution, histology and cumulative counts as well as extra-colonic tumours in the pedigree were reviewed. RESULTS:Twenty-one patients (9 males, 12 females) met study criteria. The median lifetime polyp count was 3 (range 1–36). FHS 8 (80%) was significantly associated with an increased risk of colorectal cancer compared with those with scores <8 who are more likely to develop polyps (P < 0.01). Twelve patients (57%) had predominantly left-sided polyps. Ten colorectal cancers (7 left-sided, 3 right-sided) were diagnosed at a median age of 48 (range 30–74) years. Only three tumours were mucinous or demonstrated tumour-infiltrating lymphocytes, typical of high microsatellite instability tumours. All patients had family history of colorectal cancers (CRCs) and at least 10 patients had a family history of uterine or breast cancer. One patient was found to have hyperplastic polyposis syndrome. CONCLUSIONS:FCC type X likely represents a heterogenous group of as yet undefined CRC predispositions. The polyp burden and cancer risk are variable and can be somewhat delineated according to an FHS.

journal_name

ANZ J Surg

journal_title

ANZ journal of surgery

authors

Koh PK,Kalady M,Skacel M,Fay S,McGannon E,Shenal J,Arroyo L,Toderick K,Church J

doi

10.1111/j.1445-2197.2010.05606.x

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

537-42

issue

7-8

eissn

1445-1433

issn

1445-2197

journal_volume

81

pub_type

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