The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e. SMARCB1 (RTPS1) and SMARCA4 (RTPS2). In contrast to other genetic disorders related to PVs in SMARCB1 and SMARCA4 such as Coffin-Siris Syndrome, RTPS1&2 are characterized by a predominance of truncating PVs, terminating transcription thus explaining a specific cancer risk. The penetrance of RTPS1 early in life is high and associated with a poor survival. However, few unaffected carriers may be encountered. Beyond RT, the tumor spectrum may be larger than initially suspected, and cancer surveillance offered to unaffected carriers (siblings or parents) and long-term survivors of RT is still a matter of discussion. RTPS2 exposes female carriers to an ill-defined risk of small cell carcinoma of the ovaries, hypercalcemic type (SCCOHT), which may appear in prepubertal females. RT surveillance protocols for these rare families have not been established. To address unresolved issues in the care of individuals with RTPS and to propose appropriate surveillance guidelines in childhood, the SIOPe Host Genome working group invited pediatric oncologists and geneticists to contribute to an expert meeting. The current manuscript summarizes conclusions of the panel discussion, including consented statements as well as non-evidence-based proposals for validation in the future.

横纹肌瘤 (RT) 易感综合征 1 和 2 (RTPS1 和 2) 是罕见的遗传病，使幼儿容易受到 RT 风险增加、影响肾脏、其他软组织、肝脏和中枢神经系统的恶性肿瘤的影响（非典型畸胎样横纹肌瘤，ATRT）。RTPS1 和 2 都归因于编码 BAF 染色质重塑复合物成分的基因中的致病变异 (PV)，即SMARCB1 (RTPS1) 和SMARCA4 (RTPS2)。与SMARCB1和SMARCA4中与 PV 相关的其他遗传疾病相反例如 Coffin-Siris 综合征，RTPS1&2 的特点是截断 PV 占优势，从而终止转录，从而解释特定的癌症风险。RTPS1 在生命早期的外显率很高，并且与较差的生存率有关。但是，可能会遇到少数未受影响的携带者。除了 RT，肿瘤谱可能比最初怀疑的要大，向未受影响的携带者（兄弟姐妹或父母）和 RT 的长期幸存者提供癌症监测仍然是一个讨论问题。RTPS2 使女性携带者面临不确定的卵巢小细胞癌高钙血症型 (SCCOHT) 风险，这种风险可能出现在青春期前的女性中。这些罕见家庭的 RT 监测协议尚未建立。为了解决 RTPS 患者护理中未解决的问题并提出适当的儿童期监测指南，SIOPe 宿主基因组工作组邀请儿科肿瘤学家和遗传学家参加专家会议。目前的手稿总结了小组讨论的结论，包括同意的声明以及未来验证的非证据建议。