Yang Yang, Guan Yanxian, Xu Manman, Liu Junxiu
Department of Pathology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.
Department of Gynecology and Obstetrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.
Heliyon. 2022 Oct 3;8(10):e10877. doi: 10.1016/j.heliyon.2022.e10877. eCollection 2022 Oct.
We describe the case of a young patient with a borderline mucinous ovarian tumor that progressed into ipsilateral ovarian anaplastic carcinoma in only 3 months with metastasis to the contralateral ovary and extensive spread in the pelvic and abdominal regions. The mucinous tumor harbored micro-foci of intraepithelial carcinoma, but no mural nodules, microinvasion, or invasive adenocarcinoma were detected. Notably, a rupture on the ovarian mass and low-grade pseudomyxoma peritonei were present. Next-generation sequencing identified an identical mutation in the mucinous tumor and anaplastic carcinoma, while the latter had gene amplification and , and mutations. These findings indicate the anaplastic carcinoma might have arisen via recurrence, malignant transformation and dedifferentiation of the former low-grade mucinous tumor. We consider that the mass rupture and pseudomyxoma peritonei were high-risk factors for recurrence, while genetic mutations were key drivers of progression. Accordingly, such cases may benefit from active surgical treatment and early chemotherapy.
我们描述了一名年轻患者的病例,该患者患有交界性黏液性卵巢肿瘤,仅3个月就进展为同侧卵巢间变性癌,并转移至对侧卵巢,且在盆腔和腹部广泛扩散。黏液性肿瘤存在上皮内癌微灶,但未检测到壁结节、微浸润或浸润性腺癌。值得注意的是,卵巢肿块有破裂,且存在低级别腹膜假黏液瘤。二代测序在黏液性肿瘤和间变性癌中鉴定出相同的突变,而后者存在基因扩增以及 、 和 突变。这些发现表明间变性癌可能是由先前的低级别黏液性肿瘤复发、恶性转化和去分化而来。我们认为肿块破裂和腹膜假黏液瘤是复发的高危因素,而基因突变是进展的关键驱动因素。因此,此类病例可能受益于积极的手术治疗和早期化疗。