Male breast cancer in Cowden syndrome patients with germline PTEN mutations
Male breast cancer in Cowden syndrome patients with germline PTEN mutations
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DOI：
10.1136/jmg.38.3.159
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发表时间：
2001-03-01
影响因子：
4
通讯作者：
Olopade, OI
中科院分区：
文献类型：
--
作者：
Fackenthal, JD;Marsh, DJ;Olopade, OI
Cowden综合征（CS）（OMIM 158350）是一种多发性错构瘤综合征，与PTEN肿瘤抑制基因的生殖系突变有关。虽然CS最常见的特征是非癌性病变（粘膜皮肤毛鞘瘤、肢端和掌跖角化病和乳头状瘤性丘疹），但它也与乳腺癌（女性）和甲状腺癌以及乳腺和甲状腺非癌性疾病的易感性增加有关。在这里，我们报告了两例男性乳腺癌发生在患者与经典的CS表型和生殖系PTEN突变。第一例受试者在31岁时被诊断为CS，主要表现为皮肤粘膜乳头状瘤病、面部毛鞘瘤和伴有额骨隆起的大头畸形。他在41岁时患上了乳腺癌，随后死于该病。一个PTEN突变，c.902delG，在这个主题中被确定，但没有他的家庭成员表现出CS表型的证据，这表明该PTEN突变可能是一个从头发生。第二名受试者具有CS表型，包括多发性毛鞘瘤和甲状腺腺瘤，在43岁时发展为男性乳腺癌，并在57岁时死于该疾病。他是PTEN突变c.347- 351 delACAAT的携带者，该突变与受影响的家庭成员中的CS表型共分离。这两例男性乳腺癌与生殖系PTEN突变和CS表型相关，表明CS可能与早发男性和女性乳腺癌的风险增加有关。
Cowden syndrome (CS) (OMIM 158350) is a multiple hamartoma syndrome associated with germline mutations in the PTEN tumour suppressor gene. While CS is characterised most commonly by noncancerous lesions (mucocutaneous trichilemmomas, acral and palmoplantar keratoses, and papillomatous papules), it is also associated with an increased susceptibility to breast cancer (in females) and thyroid cancer, as well as non-cancerous conditions of the breast and thyroid. Here we report two cases of male breast cancer occurring in patients with classical CS phenotypes and germline PTEN mutations. The first subject was diagnosed with CS indicated primarily by mucocutaneous papillomatosis, facial trichilemmomas, and macrocephaly with frontal bossing at the age of 31 years. He developed breast cancer at 41 years and subsequently died of the disease. A PTEN mutation, c.902delG, was identified in this subject, yet none of his family members showed evidence of a CS phenotype, suggesting that this PTEN mutation may be a de novo occurrence. The second subject had a CS phenotype including multiple trichilemmomas and thyroid adenoma, developed male breast cancer at 43 years, and died of the disease at 57 years. He was a carrier of a PTEN mutation c.347-351delACAAT that cosegregated with the CS phenotype in affected family members. These two cases of male breast cancer associated with germline PTEN mutations and the CS phenotype suggest that CS may be associated with an increased risk of early onset male as well as female breast cancer.