Mauro Angela, Omoyinmi Ebun, Sebire Neil James, Barnicoat Angela, Brogan Paul
Department of Paediatrics, San Giacomo Hospital, Via Edilio Raggio, Novi Ligure, Italy.
Infection, Inflammation, and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, UK.
Case Rep Pediatr. 2017;2017:9682803. doi: 10.1155/2017/9682803. Epub 2017 Apr 24.
Phosphatase and tensin homolog (PTEN) is the protein encoded by the gene (10q23.3). mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by mutations. We describe a case of PHTS syndrome caused by a de novo mutation in detected using a targeted next generation sequencing (NGS) gene panel which was instigated for workup of cutaneous vasculitis. We highlight the diagnostic utility of this approach and that mutations in may be associated with immune-dysregulatory features such as vasculitis in young children.
磷酸酶和张力蛋白同源物（PTEN）是由位于10q23.3的基因编码的蛋白质。该基因突变与多种罕见疾病相关，这些疾病统称为PTEN错构瘤肿瘤综合征（PHTS），包括考登综合征、巴纳扬-莱利-鲁瓦尔卡巴综合征、变形综合征和类变形综合征。这些疾病与恶性肿瘤风险增加有关，因此准确的早期诊断对于开展癌症监测至关重要。PTEN是免疫系统细胞生长和稳态的调节因子，尽管描述该基因突变导致免疫失调的数据有限。我们描述了一例因新发PTEN基因突变导致的PHTS综合征病例，该突变是通过靶向二代测序（NGS）基因panel检测到的，该检测是为了对皮肤血管炎进行检查而启动的。我们强调了这种方法的诊断效用，以及PTEN基因突变可能与幼儿免疫失调特征（如血管炎）相关。
