Hunt L M, Robinson M H, Hugkulstone C E, Clarke B, Vernon S A, Gregson R H, Hardcastle J D, Armitage N C
Department of Surgery, University of Nottingham, Queen's Medical Centre, UK.
Br J Cancer. 1994 Jul;70(1):173-6. doi: 10.1038/bjc.1994.271.
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) and multiple mandibular osteomata are markers of familial adenomatous polyposis (FAP). We have assessed their prevalence in non-polyposis familial colorectal neoplasia. Multiple mandibular osteomata were present in 1/29 (3%) patients with familial colorectal neoplasia. CHRPE was present in 11/33 (33%) patients with familial colorectal neoplasia compared with 3/36 (8%) with sporadic disease (P = 0.01) and 4/32 (12.5%) control subjects (P = 0.04). Seven patients with familial colorectal neoplasia had multiple areas of CHRPE compared with one with sporadic disease (P = 0.02) and one control subject (P = 0.02). There was no obvious correlation between calculated familial colorectal cancer risk and the presence of multiple areas of CHRPE. A proportion of patients with familial colorectal cancer have a marker found in FAP and may therefore have a constitutional genetic defect, at least in part responsible for their cancer, making them an interesting group for genetic study. Ophthalmoscopy may contribute to risk assessment in familial colorectal cancer.
视网膜色素上皮先天性肥大（CHRPE）和多发性下颌骨骨瘤是家族性腺瘤性息肉病（FAP）的标志物。我们评估了它们在非息肉病性家族性结直肠癌中的患病率。在29例家族性结直肠癌患者中有1例（3%）存在多发性下颌骨骨瘤。33例家族性结直肠癌患者中有11例（33%）存在CHRPE，相比之下，散发性疾病患者36例中有3例（8%）（P = 0.01），对照受试者32例中有4例（12.5%）（P = 0.04）。7例家族性结直肠癌患者有多个CHRPE区域，相比之下，散发性疾病患者中有1例，对照受试者中有1例（P = 0.02）。计算得出的家族性结直肠癌风险与多个CHRPE区域的存在之间无明显相关性。一部分家族性结直肠癌患者有一种在FAP中发现的标志物，因此可能存在一种体质性遗传缺陷，至少部分导致了他们患癌，这使他们成为一个有趣的遗传学研究群体。眼底检查可能有助于家族性结直肠癌的风险评估。
