Martin-Giacalone Bailey A, Weinstein P Adam, Plon Sharon E, Lupo Philip J
Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
Program in Translational Biology and Molecular Medicine, Graduate School of Biomedical Sciences, Baylor College of Medicine, Houston, TX 77030, USA.
J Clin Med. 2021 May 9;10(9):2028. doi: 10.3390/jcm10092028.
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children, yet little is known about its etiology. Studies that examine either environmental exposures or germline genetic predisposition in RMS have begun to identify factors that contribute to this malignancy. Here, we summarize epidemiological reports of RMS incidence in terms of several factors, including age at diagnosis, biological sex, and geographic location. We then describe findings from association studies, which explore the role of parental exposures, birth and perinatal characteristics, and childhood exposures in RMS. Further, we discuss RMS predisposition syndromes and large-scale sequencing studies that have further identified RMS-associated genes. Finally, we propose future directions of study, which aim to advance our understanding of the origin of RMS and can provide knowledge for novel RMS therapies.
横纹肌肉瘤（RMS）是儿童中最常见的软组织肉瘤，但其病因却鲜为人知。研究环境暴露或RMS中的种系遗传易感性的研究已开始确定导致这种恶性肿瘤的因素。在这里，我们根据几个因素，包括诊断时的年龄、生物学性别和地理位置，总结了RMS发病率的流行病学报告。然后，我们描述了关联研究的结果，这些研究探讨了父母暴露、出生和围产期特征以及儿童期暴露在RMS中的作用。此外，我们讨论了RMS易感性综合征和大规模测序研究，这些研究进一步确定了与RMS相关的基因。最后，我们提出了未来的研究方向，旨在增进我们对RMS起源的理解，并可为新型RMS治疗提供知识。
