Newman Brian D, Maher Joseph F, Subauste Jose S, Uwaifo Gabriel I, Bigler Steven A, Koch Christian A
J Med Case Rep. 2009 Jul 16;3:6905. doi: 10.4076/1752-1947-3-6905.
Multiple distinct tumors arising in a single individual or within members of a family raise the suspicion of a genetic susceptibility disorder.
We present the case of a 52-year-old Caucasian woman diagnosed with sebaceous gland carcinoma of the eyelid, followed several years later with subsequent diagnoses of breast cancer and papillary carcinoma of the thyroid. Although the patient was also exposed to radiation from a pipe used in the oil field industry, the constellation of neoplasms in this patient suggests the manifestation of a known hereditary susceptibility cancer syndrome. However, testing for the most likely candidates such as Muir-Torre and Cowden syndrome proved negative.
We propose that our patient's clustering of neoplasms either represents a novel cancer susceptibility disorder, of which sebaceous gland carcinoma is a characteristic feature, or is a variant of the Muir-Torre syndrome.
单个个体或家族成员中出现多种不同肿瘤会引发对遗传性易感性疾病的怀疑。
我们报告一例52岁的白种女性病例,该患者被诊断为眼睑皮脂腺癌,数年后又被诊断出患有乳腺癌和甲状腺乳头状癌。尽管该患者还接触过油田行业使用的管道辐射,但该患者出现的一系列肿瘤提示可能是一种已知的遗传性易感性癌症综合征的表现。然而,对最有可能的候选病症如穆尔-托里综合征和考登综合征的检测结果为阴性。
我们认为,该患者肿瘤的聚集要么代表一种新的癌症易感性疾病,其特征为皮脂腺癌,要么是穆尔-托里综合征的一种变体。