Del Baldo Giada, Carta Roberto, Alessi Iside, Merli Pietro, Agolini Emanuele, Rinelli Martina, Boccuto Luigi, Milano Giuseppe Maria, Serra Annalisa, Carai Andrea, Locatelli Franco, Mastronuzzi Angela
Department of Paediatric Haematology/Oncology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Front Oncol. 2021 Feb 22;11:586288. doi: 10.3389/fonc.2021.586288. eCollection 2021.
Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. Rhabdoid tumors share germline and somatic mutations in or, more rarely, , members of the SWI/SNF chromatin-remodeling complex. Rhabdoid tumor predisposition syndrome (RTPS) is a condition characterized by a high risk of developing rhabdoid tumors, among other features. RTPS1 is characterized by pathogenic variants in the gene, while RTPS2 has variants in . Interestingly, germline variants of and have been identified also in patients with Coffin-Siris syndrome. Children with RTPS typically present with tumors before 1 year of age and in a high percentage of cases develop synchronous or multifocal tumors with aggressive clinical features. The diagnosis of RTPS should be considered in patients with rhabdoid tumors, especially if they have multiple primary tumors and/or in individuals with a family history. Because germline mutations result in an increased risk of carriers developing rhabdoid tumors, genetic counseling, and surveillance for all family members with this condition is recommended.
横纹肌样瘤是婴幼儿中罕见的侵袭性恶性肿瘤，预后较差。最常见的解剖学定位是中枢神经系统、肾脏和其他软组织。横纹肌样瘤在SWI/SNF染色质重塑复合体的成员中存在种系和体细胞突变，或更罕见地，在 中存在突变。横纹肌样瘤易感综合征（RTPS）是一种以发生横纹肌样瘤的高风险为特征的疾病，还有其他特征。RTPS1的特征是 基因中的致病变异，而RTPS2在 中有变异。有趣的是，在科芬-西里斯综合征患者中也发现了 和 的种系变异。患有RTPS的儿童通常在1岁前出现肿瘤，并且在高比例的病例中会发展为具有侵袭性临床特征的同步或多灶性肿瘤。对于患有横纹肌样瘤的患者，尤其是如果他们有多个原发性肿瘤和/或有家族病史的个体，应考虑RTPS的诊断。由于种系突变会增加携带者发生横纹肌样瘤的风险，因此建议对所有患有这种疾病的家庭成员进行遗传咨询和监测。
