Chen Celia S, Phillips Kerry D, Grist Scott, Bennet Graeme, Craig Jamie E, Muecke James S, Suthers Graeme K
Ocular Oncology Unit, Department of Ophthalmology, Royal Adelaide Hospital, Adelaide, SA, Australia.
Fam Cancer. 2006;5(4):397-404. doi: 10.1007/s10689-006-0011-y. Epub 2006 Aug 31.
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a pigmented fundus lesion associated with familial adenomatous polyposis (FAP). CHRPE prevalence has been reported to be increased in subjects with familial or sporadic non-polyposis colorectal cancer (CRC), suggesting that some individuals with non-polyposis CRC have an attenuated form of FAP. Other studies have not confirmed these clinical observations and have failed to identify mutations in the gene responsible for FAP, but the reason for the discrepancy in relation to CHRPE prevalence has not been resolved. We determined the prevalence of CHRPE in subjects without CRC (negative control cohort), subjects with FAP (positive control cohort), and subjects with familial non-polyposis CRC (test cohort).
A cohort study consisting of 37 negative control subjects, 9 positive control subjects with documented APC gene mutations, and 36 test subjects with familial non-polyposis CRC but no identified pathogenic APC gene mutation. The diagnosis of hereditary non-polyposis colon cancer was excluded in the test cohort by testing for microsatellite instability in tumour tissue.
None of the 37 people in the negative control group had CHRPE. Five of nine (56%) patients with FAP had multiple CHRPE lesions. None of the 36 subjects in the test cohort had CHRPE lesions.
Ophthalmoscopy may contribute to risk assessment in families with FAP but not in familial non-polyposis CRC. Care must be exercised when interpreting pigmented fundus lesions because 8-13% of subjects in each of the cohorts had pigmented retinal lesions that were not CHRPE. Bilateral lesions and lesions with a depigmented halo were the hallmarks of CHRPE associated with FAP.
视网膜色素上皮先天性肥大（CHRPE）是一种与家族性腺瘤性息肉病（FAP）相关的眼底色素性病变。据报道，家族性或散发性非息肉病性结直肠癌（CRC）患者中CHRPE的患病率有所增加，这表明一些非息肉病性CRC患者患有FAP的一种弱化形式。其他研究未证实这些临床观察结果，也未能鉴定出FAP相关基因的突变，但CHRPE患病率差异的原因尚未得到解决。我们确定了无CRC患者（阴性对照组）、FAP患者（阳性对照组）和家族性非息肉病性CRC患者（测试组）中CHRPE的患病率。
一项队列研究，包括37名阴性对照受试者、9名记录有APC基因突变的阳性对照受试者以及36名患有家族性非息肉病性CRC但未鉴定出致病性APC基因突变的测试受试者。通过检测肿瘤组织中的微卫星不稳定性，在测试组中排除遗传性非息肉病性结肠癌的诊断。
阴性对照组的37人中无一例患有CHRPE。9例FAP患者中有5例（56%）有多个CHRPE病变。测试组的36名受试者中无一例有CHRPE病变。
眼底镜检查可能有助于FAP家族的风险评估，但对家族性非息肉病性CRC无效。在解释眼底色素性病变时必须谨慎，因为每组队列中8% - 13%的受试者有非CHRPE的视网膜色素性病变。双侧病变和有色素脱失晕的病变是与FAP相关的CHRPE的特征。
