PDF(Pubmed)
Abstract：
UNASSIGNED: Alveolar soft part sarcoma (ASPS) is a rare and distinct subtype of soft tissue sarcoma. This study aims to describe the unique presentation of ASPS in the female genital tract.
UNASSIGNED: Prognostic factors for cancer-specific overall survival (CSS) were evaluated using multivariate analyses.
UNASSIGNED: In our case series, we identified a novel TFE3-PRCC gene fusion in a 24-year-old unmarried patient with cervical ASPS who underwent fertility-sparing surgery and remained recurrence-free for 41 months. The other two patients underwent radical hysterectomy and bilateral salpingo-oophorectomy. At the time of writing, the two patients had been disease-free for 49 and 71 months, fluorescence in situ hybridization showed break-apart signals for the ASPL-TFE3 gene. Among the 55 cases with available information from the PubMed/Medline database, most presented with localized disease, and at the last follow-up, all patients were alive and 45 patients showed no evidence of disease. The 5-year CSS rate in the female genital tract cohort from SEER database was 86.2%. Multivariate analysis revealed that older age was associated with a 1.042-fold increased risk of cancer-specific mortality (HR=1.042, 95% CI 1.022-1.063, P < 0.001), involvement of soft tissue including the heart was associated with a 4.786-fold higher risk (HR=4.7868, 95% CI 1.681-13.623, P= 0.003), and regional infiltration and distant metastasis were associated with approximately 8.6-fold and 18-fold higher risk of cancer-specific mortality compared to local disease, respectively (HR=8.652, 95% CI 2.529-29.63, P = 0.001; HR=18.366, 95% CI 6.153-54.817, P< 0.001). Patients who underwent radical excision did not show reduced cancer-specific mortality compared to those who underwent local excision (HR=0.492, 95% CI 0.224-1.081, P = 0.078).
UNASSIGNED: Previously unrecognized genetic diversity exists in ASPS. Patients with ASPS in the female genital tract have the lowest likelihood of presenting with a distant disease and are associated with a more favorable survival outcome.
UNASSIGNED: Prognostic factors for cancer-specific overall survival (CSS) were evaluated using multivariate analyses.
UNASSIGNED: In our case series, we identified a novel TFE3-PRCC gene fusion in a 24-year-old unmarried patient with cervical ASPS who underwent fertility-sparing surgery and remained recurrence-free for 41 months. The other two patients underwent radical hysterectomy and bilateral salpingo-oophorectomy. At the time of writing, the two patients had been disease-free for 49 and 71 months, fluorescence in situ hybridization showed break-apart signals for the ASPL-TFE3 gene. Among the 55 cases with available information from the PubMed/Medline database, most presented with localized disease, and at the last follow-up, all patients were alive and 45 patients showed no evidence of disease. The 5-year CSS rate in the female genital tract cohort from SEER database was 86.2%. Multivariate analysis revealed that older age was associated with a 1.042-fold increased risk of cancer-specific mortality (HR=1.042, 95% CI 1.022-1.063, P < 0.001), involvement of soft tissue including the heart was associated with a 4.786-fold higher risk (HR=4.7868, 95% CI 1.681-13.623, P= 0.003), and regional infiltration and distant metastasis were associated with approximately 8.6-fold and 18-fold higher risk of cancer-specific mortality compared to local disease, respectively (HR=8.652, 95% CI 2.529-29.63, P = 0.001; HR=18.366, 95% CI 6.153-54.817, P< 0.001). Patients who underwent radical excision did not show reduced cancer-specific mortality compared to those who underwent local excision (HR=0.492, 95% CI 0.224-1.081, P = 0.078).
UNASSIGNED: Previously unrecognized genetic diversity exists in ASPS. Patients with ASPS in the female genital tract have the lowest likelihood of presenting with a distant disease and are associated with a more favorable survival outcome.
摘要：
■肺泡软组织肉瘤（ASPS）是一种罕见且独特的软组织肉瘤亚型。这项研究旨在描述女性生殖道中ASPS的独特表现。
使用多变量分析评估癌症特异性总生存期(CSS)的预后因素。
■在我们的案例系列中，我们在1例24岁未婚宫颈ASPS患者中发现了一种新型TFE3-PRCC基因融合体,该患者接受了保留生育功能的手术,并在41个月内保持无复发.另外两名患者接受了根治性子宫切除术和双侧附件卵巢切除术。在撰写本文时,这两名患者已经无病治疗了49个月和71个月，荧光原位杂交显示ASPL-TFE3基因的信号分离。在PubMed/Medline数据库提供的55例病例中，大多数表现为局部疾病，在最后一次随访中，所有患者均存活,45例患者无疾病迹象.SEER数据库中女性生殖道队列的5年CSS率为86.2％。多因素分析显示，年龄与癌症特异性死亡率增加1.042倍相关(HR=1.042,95%CI1.022-1.063,P<0.001)。包括心脏在内的软组织受累与4.786倍的风险相关(HR=4.7868,95%CI1.681-13.623,P=0.003),与局部疾病相比，区域浸润和远处转移与癌症特异性死亡率的风险高约8.6倍和18倍相关。（HR=8.652，95%CI2.529-29.63，P=0.001；HR=18.366，95%CI6.153-54.817，P<0.001）。与接受局部切除术的患者相比，接受根治性切除术的患者未显示出降低的癌症特异性死亡率（HR=0.492，95％CI0.224-1.081，P=0.078）。
■以前未被识别的遗传多样性存在于ASPS中。女性生殖道ASPS患者出现远处疾病的可能性最低，并且与更有利的生存结果相关。
使用多变量分析评估癌症特异性总生存期(CSS)的预后因素。
■在我们的案例系列中，我们在1例24岁未婚宫颈ASPS患者中发现了一种新型TFE3-PRCC基因融合体,该患者接受了保留生育功能的手术,并在41个月内保持无复发.另外两名患者接受了根治性子宫切除术和双侧附件卵巢切除术。在撰写本文时,这两名患者已经无病治疗了49个月和71个月，荧光原位杂交显示ASPL-TFE3基因的信号分离。在PubMed/Medline数据库提供的55例病例中，大多数表现为局部疾病，在最后一次随访中，所有患者均存活,45例患者无疾病迹象.SEER数据库中女性生殖道队列的5年CSS率为86.2％。多因素分析显示，年龄与癌症特异性死亡率增加1.042倍相关(HR=1.042,95%CI1.022-1.063,P<0.001)。包括心脏在内的软组织受累与4.786倍的风险相关(HR=4.7868,95%CI1.681-13.623,P=0.003),与局部疾病相比，区域浸润和远处转移与癌症特异性死亡率的风险高约8.6倍和18倍相关。（HR=8.652，95%CI2.529-29.63，P=0.001；HR=18.366，95%CI6.153-54.817，P<0.001）。与接受局部切除术的患者相比，接受根治性切除术的患者未显示出降低的癌症特异性死亡率（HR=0.492，95％CI0.224-1.081，P=0.078）。
■以前未被识别的遗传多样性存在于ASPS中。女性生殖道ASPS患者出现远处疾病的可能性最低，并且与更有利的生存结果相关。
