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携带 突变的黏液性交界性卵巢肿瘤破裂后迅速复发,随后进展为携带 突变的间变性癌。

Rapid recurrence of a ruptured mucinous borderline ovarian tumor harboring mutation followed by progression into anaplastic carcinoma with mutation.

作者信息

Yang Yang, Guan Yanxian, Xu Manman, Liu Junxiu

机构信息

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.

出版信息

Heliyon. 2022 Oct 3;8(10):e10877. doi: 10.1016/j.heliyon.2022.e10877. eCollection 2022 Oct.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa16/9586857/5991058598e9/gr1.jpg

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