PTEN hamartoma tumor syndrome.
PTEN hamartoma tumor syndrome.
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DOI：
10.1016/b978-0-444-62702-5.00009-3
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发表时间：
2015-01-01
影响因子：
--
通讯作者：
Charis, Eng
中科院分区：
文献类型：
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作者：
Mester, Jessica;Charis, Eng
PTEN错构瘤肿瘤综合征（PTEN hamartoma tumor syndrome，简称PHTS）是一种分子诊断术语，用于描述出现PTEN肿瘤抑制基因种系突变的考登综合征、Bannayan-Riley-Ruvalcaba综合征等临床表现的患者。PHTS会增加罹患特定恶性肿瘤的风险，尤其是乳腺癌、甲状腺癌、肾癌和子宫内膜癌。良性肿瘤很常见，影响多种组织，范围从无需治疗的细微皮肤丘疹到破坏性的血管异常。也有广泛的神经发育影响，一些患者没有挑战，其他人有严重的自闭症谱系障碍和智力迟钝。虽然大多数病例在一个家族中世代遗传，遵循常染色体显性模式，但至少10%，可能多达44%的病例是由于新的（从头）突变。临床表现可能因患者而异，甚至在同一家庭中也是如此。这种情况的特征可能有助于在癌症发展之前进行诊断，这些特征可能是微妙的，难以识别的。本章将帮助读者确定哪些患者应该进行遗传评估，以及如何管理被诊断患有这种罕见疾病的患者。
PTEN hamartoma tumor syndrome (PHTS) is the molecular diagnostic term describing patients with Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and other clinical presentations with germline mutation of the PTEN tumor suppressor gene. PHTS confers increased risks for specific malignancies, most notably breast, thyroid, renal, and endometrial cancers. Benign tumors are common, affecting a variety of tissues, and can range from subtle skin papules requiring no treatment to devastating vascular anomalies. There is also a broad range of neurodevelopmental effects, with some patients having no challenges and others with severe autism spectrum disorder and mental retardation. While most cases are inherited in a family for generations, following an autosomal dominant pattern, at least 10% and perhaps as many as 44% of cases are due to a new (de novo) mutation. Clinical presentations can vary dramatically from patient to patient, even among those in the same family. Features of this condition that may assist in diagnosis prior to cancer development can be subtle and difficult to recognize. This chapter will help the reader identify which patients should be referred for genetics evaluation and how to manage patients diagnosed with this rare condition.