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一例罕见的伴有BCOR-CCNB3突变的下肢肉瘤病例:诊断与治疗

A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment.

作者信息

Kedia Ansh, Singh Gurpreet, Parmar Subhangi, Varsha Hima, Tango Tamara, Agarwal Pahel, Sahu Sweta, Chauhan Dharmesh R

机构信息

Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.

Medicine, Government Medical College & Hospital, Chandigarh, IND.

出版信息

Cureus. 2023 Feb 23;15(2):e35389. doi: 10.7759/cureus.35389. eCollection 2023 Feb.

Abstract

In the past, BCOR-CCNB3 sarcoma was believed to be comparable to Ewing's sarcoma; however, current research has proven that it is, in reality, a distinct type of the illness, now classified as a distinct entity under undifferentiated round cell sarcomas. This tumour most frequently affects teenagers and young adults, and it is more prevalent in men. It can form in both bone and soft tissue, and it appears most frequently in the pelvis, lower extremities, and paraspinal region. Here, we describe a case of a soft tissue tumour in the proximal posterior portion of the right thigh of a 12-year-old male that was subsequently shown to be a BCOR-CCNB3 fusion using genetic analysis.

摘要

过去,BCOR-CCNB3肉瘤被认为与尤因肉瘤类似;然而,目前的研究已证明,实际上它是一种独特的疾病类型,现在被归类为未分化圆形细胞肉瘤中的一个独特实体。这种肿瘤最常影响青少年和青年成年人,且在男性中更为普遍。它可在骨骼和软组织中形成,最常出现在骨盆、下肢和脊柱旁区域。在此,我们描述一例12岁男性右大腿近端后部软组织肿瘤的病例,该病例经基因分析后显示为BCOR-CCNB3融合瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5df4/10039981/3d9f0e0f1865/cureus-0015-00000035389-i01.jpg

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