Clinical Genetics Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy.
Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7.
Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro-ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS.
结节性硬化症或基底细胞痣综合征（NBCCS）是一种常染色体显性遗传疾病，主要表现为下颌骨角化囊肿的发生，这些囊肿通常在第二个十年开始出现，或多发性基底细胞癌（BCC）通常在第三个十年开始出现。可能会出现心脏和卵巢纤维瘤。NBCCS 患者中有 5%会发展为儿童脑恶性肿瘤髓母细胞瘤（现在通常称为原始神经外胚层肿瘤[PNET]）。其他恶性肿瘤的风险似乎没有明显增加，尽管这种情况下可能会发生淋巴瘤和脑膜瘤。文献中曾四次提到过威尔姆斯瘤。我们描述了一名患者，其存在一个 10.9Mb 的 9q22.3 缺失，跨越 9q22.2 至 9q31.1，包括 PTCH1 基因的整个编码序列，该患者患有威尔姆斯瘤、多种肿瘤（肺、肝、肠系膜、胃和肾平滑肌瘤、肺典型类癌瘤、胸膜腺肌瘤）和严重的临床表现。我们建议将平滑肌瘤纳入 NBCCS 的次要标准中。
