目的:最近已经定义了新的横纹肌肉瘤的组织分子亚型,但其相应的临床特征尚未得到很好的描述。此外,这些临床表型因年龄和种族而异,但尚未在亚洲人群中进行分析.因此,我们试图在一个亚洲国家队列中确定横纹肌肉瘤亚型的情况,并比较各年龄组和分子亚型的临床特征.
方法:我们对2004年至2014年新加坡公立医院的所有横纹肌肉瘤患者进行了一项基于人群的回顾性研究(n=67),并根据中央病理学回顾和分子谱分析后更新的2020年WHO软组织肿瘤分类分配组织分子亚型。
结果:年龄特异性患病率遵循三模态峰值。儿童中胚胎和肺泡(p=0.032)和泌尿生殖系统(非膀胱/前列腺)肿瘤(p=0.033)明显更多。年龄较大与梭形细胞/硬化性肿瘤的完全切除有关(p=0.027),随着胚胎性肿瘤中化疗的省略(p=0.001),胚胎性和肺泡性肿瘤的生存率较差(分别为p=0.026,p=0.022)。总生存期因分期而异,group,和手术切除,调整年龄组(分别为p=0.004,p=0.001,p=0.004)。梭形细胞/硬化性肿瘤显示惰性表型,淋巴结转移的发生率显着降低(p=0.002),但是15例MYOD1突变患者中有2例患有相反的侵袭性疾病.
结论:横纹肌肉瘤亚型的疾病和治疗反应谱在成人和儿童之间有显著差异,尤其是手术切除。在我们的亚洲人口中,在胚胎和肺泡肿瘤的成人中观察到较差的结局,而激活突变影响其他有利的梭形细胞/硬化性肿瘤的行为。
OBJECTIVE: New histomolecular subtypes of rhabdomyosarcoma have recently been defined but their corresponding clinical characteristics are not well described. Also, these clinical phenotypes vary greatly by age and ethnicity but have not been profiled in Asian populations. Thus, we sought to determine the landscape of rhabdomyosarcoma subtypes in a national Asian cohort and compare clinical characteristics among age groups and molecular subtypes.
METHODS: We performed a retrospective population-based study of all rhabdomyosarcoma patients in Singapore public hospitals from 2004 to 2014 (n = 67), and assigned histomolecular subtypes according to the updated 2020 WHO classification of soft tissue tumors following central pathology review and molecular profiling.
RESULTS: Age-specific prevalence followed a tri-modal peak. There were significantly more embryonal and alveolar (p = 0.032) and genitourinary (non-bladder/prostate) tumors (p = 0.033) among children. Older age was associated with complete resection among spindle cell/sclerosing tumors (p = 0.027), with the omission of chemotherapy among embryonal tumors (p = 0.001), and with poorer survival among embryonal and alveolar tumors (p = 0.026, p = 0.022, respectively). Overall survival differed with stage, group, and surgical resection, adjusted for age group (p = 0.004, p = 0.001, p = 0.004, respectively). Spindle-cell/sclerosing tumors showed an indolent phenotype with a significantly lower incidence of nodal metastasis (p = 0.002), but two of 15 patients with MYOD1 mutations had a contrastingly aggressive disease.
CONCLUSIONS: Disease and treatment response profiles of rhabdomyosarcoma subtypes vary significantly between adults and children, especially surgical resectability. In our Asian population, poorer outcomes were observed in adults with embryonal and alveolar tumors, while activating mutations influence the behavior of otherwise favorable spindle cell/sclerosing tumors.