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Abstract：
BACKGROUND: Müllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological characteristics of 22 adenosarcomas, with a particular focus on screening for DICER1 hot mutations.
METHODS: The cohort consisted of patients with adenosarcoma who were registered at the West China Second Hospital between the years 2020 and June 2022. Sanger sequencing was employed to screen for somatic Hotspot mutations in the RNase IIIb domain of DICER1 in the 22 adenosarcomas.
RESULTS: Only one patient exhibited a DICER1 mutation that was not a DICER1 Hotspot mutation. Among the 22 patients, all underwent total hysterectomy with bilateral salpingo-oophorectomy, and 14 out of these 22 patients received adjuvant treatment.
CONCLUSIONS: In summary, our study of 22 Müllerian adenosarcomas focused on the clinicopathological features and the presence of DICER1 Hotspot mutations. Although our findings did not reveal any DICER1 mutations in the studied samples, this negative result provides valuable information for the field by narrowing down the genetic landscape of adenosarcomas and highlighting the need for further research into alternative molecular pathways driving this malignancy.
METHODS: The cohort consisted of patients with adenosarcoma who were registered at the West China Second Hospital between the years 2020 and June 2022. Sanger sequencing was employed to screen for somatic Hotspot mutations in the RNase IIIb domain of DICER1 in the 22 adenosarcomas.
RESULTS: Only one patient exhibited a DICER1 mutation that was not a DICER1 Hotspot mutation. Among the 22 patients, all underwent total hysterectomy with bilateral salpingo-oophorectomy, and 14 out of these 22 patients received adjuvant treatment.
CONCLUSIONS: In summary, our study of 22 Müllerian adenosarcomas focused on the clinicopathological features and the presence of DICER1 Hotspot mutations. Although our findings did not reveal any DICER1 mutations in the studied samples, this negative result provides valuable information for the field by narrowing down the genetic landscape of adenosarcomas and highlighting the need for further research into alternative molecular pathways driving this malignancy.
摘要：
背景：苗勒腺肉瘤，一种罕见的恶性肿瘤,提出了诊断和治疗的挑战。在这项研究中,我们对22例腺肉瘤的临床病理特征进行了分析，特别侧重于筛选DICER1热突变。
方法：该队列包括2020年至2022年6月在华西第二医院注册的腺肉瘤患者。Sanger测序用于筛选22个腺肉瘤中DICER1的RNaseIIIb结构域中的体细胞热点突变。
结果：只有一名患者表现出DICER1突变，而不是DICER1热点突变。在22名患者中，所有患者均接受了全子宫切除术和双侧附件卵巢切除术，这22名患者中有14名接受了辅助治疗。
结论：总之，我们对22例苗勒腺肉瘤的研究集中在临床病理特征和DICER1热点突变的存在。尽管我们的研究结果没有发现研究样品中的任何DICER1突变，这一阴性结果为该领域提供了有价值的信息,缩小了腺肉瘤的遗传范围,并强调需要进一步研究驱动这种恶性肿瘤的替代分子途径.
方法：该队列包括2020年至2022年6月在华西第二医院注册的腺肉瘤患者。Sanger测序用于筛选22个腺肉瘤中DICER1的RNaseIIIb结构域中的体细胞热点突变。
结果：只有一名患者表现出DICER1突变，而不是DICER1热点突变。在22名患者中，所有患者均接受了全子宫切除术和双侧附件卵巢切除术，这22名患者中有14名接受了辅助治疗。
结论：总之，我们对22例苗勒腺肉瘤的研究集中在临床病理特征和DICER1热点突变的存在。尽管我们的研究结果没有发现研究样品中的任何DICER1突变，这一阴性结果为该领域提供了有价值的信息,缩小了腺肉瘤的遗传范围,并强调需要进一步研究驱动这种恶性肿瘤的替代分子途径.
