A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis.
A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis.
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考登综合征患者 PTEN 基因的新突变，伴有嘴唇过度乳头状瘤、离散皮肤病变和胃肠道息肉病。
DOI：
10.1097/meg.0b013e3280d6ed4b
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发表时间：
2007
影响因子：
2.1
通讯作者：
J. Martínek
中科院分区：
文献类型：
--
作者：
P. Vasovčák;A. Křepelová;A. Puchmajerová;J. Spicak;L. Voska;A. Musilová;J. Mesták;J. Martínek
考登综合征是一种遗传性疾病，其特征是皮肤粘膜病变、胃肠道错构瘤性息肉病以及乳腺癌、甲状腺癌和子宫内膜癌的风险增加。尽管对这种疾病的表型表达有很好的描述，但确定正确的临床诊断并不容易。在本病例报告中，我们介绍了一名考登综合征患者的临床病史。 22岁时，他被查出患有胃肠道息肉病。黑斑息肉综合征的诊断成立。由于腹部剧烈痉挛，36岁的他被送往另一个胃肠科进行彻底的胃肠道检查。我们发现食管有糖原性棘皮症；胃内有大息肉的弥漫性息肉病，以及十二指肠、结肠和直肠内有小息肉的息肉病。我们还注意到存在过度的嘴唇粘膜皮肤乳头状瘤病和微妙的皮肤病变。建议进行可能的考登综合征诊断。同年，他接受了嘴唇整形手术。在手术过程中，还注意到气管弥漫性结节。在进行整形手术并评估考登综合征作为可能的诊断后，建议他进行基因检查。 Cowden 综合征的诊断通过 PTEN 基因（10 号染色体上磷酸酶和张力蛋白同源物缺失）的测序分析得到证实。我们发现“c.825_840delAAATACATTCTTCATA”删除。该病例证实，为了建立正确的诊断，特别是对于罕见的临床重叠综合征，分子检测通常是唯一可靠的方法。
Cowden syndrome is an inherited disease characterized by mucocutaneous lesions, gastrointestinal hamartomatous polyposis and an increased risk of breast, thyroid and endometrial carcinomas. Despite well described phenotypic expression of this disease, it is not easy to determine correct clinical diagnosis. In this case report we present a clinical history of a patient with Cowden syndrome. When he was 22 years old, he was found to have polyposis of gastrointestinal tract. The diagnosis of Peutz-Jeghers syndrome was established. Owing to intensive belly spasms, as a 36-year-old he was sent to another gastroenterological department where the thorough gastrointestinal tract examination was performed. We found glycogenic acanthosis of the esophagus; diffuse polyposis with large polyps within the stomach, and polyposis with small polyps in duodenum, colon, and rectum. We also noted the presence of excessive mucocutaneous papillomatosis of the lips and subtle skin lesions. Possible Cowden syndrome diagnosis was suggested. The same year he underwent plastic operation of the lips. During surgery, diffuse nodularity of the trachea was also noted. After plastic operation and assessment of Cowden syndrome as a possible diagnosis, he was recommended for a genetic examination. Diagnosis of Cowden syndrome was confirmed by sequencing analysis of the PTEN gene (phosphatase and tensin homolog deleted on chromosome 10). We found 'c.825_840delAAATACATTCTTCATA' deletion. This case affirmed that, for establishment of a correct diagnosis, especially for rare clinically overlapping syndromes, molecular testing is usually the only reliable method.
家族性幼年性息肉病的遗传异质性。
影响因子：
11.2
作者：
Huang,SC;Chen,CR;Lavine,JE;Taylor,SF;Newbury,RO;Pham,TT;Ricciardiello,L;Carethers,JM
通讯作者：
Carethers,JM