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骨恶性巨细胞瘤伴 KRAS G12V 突变。

Malignant Giant Cell Tumor of Bone With a KRAS G12V Mutation.

机构信息

Departments of Pediatrics.

Pediatric Hematology and Oncology.

出版信息

J Pediatr Hematol Oncol. 2022 Jan 1;44(1):e268-e271. doi: 10.1097/MPH.0000000000002112.

Abstract

Malignant giant cell tumor of bone (GCTB) is a rare, aggressive, sarcoma occurring in adolescent and young adults. It is characterized by the presence of multinucleated giant cells and an aggressive clinical course. Because of the rarity of this tumor, no standard therapies have been identified. Current treatment regimens often include osteosarcoma chemotherapy protocols. We present a case of a malignant GCTB with a KRAS G12V mutation. This mutation is a known oncogenic driver that has not previously been reported on patients with malignant GCTB.

摘要

骨恶性巨细胞瘤(GCTB)是一种罕见的、侵袭性的肉瘤,发生在青少年和年轻成人中。其特征是存在多核巨细胞和侵袭性的临床病程。由于这种肿瘤罕见,尚未确定标准的治疗方法。目前的治疗方案通常包括骨肉瘤的化疗方案。我们报告了一例 KRAS G12V 突变的恶性 GCTB。这种突变是一种已知的致癌驱动因子,以前在恶性 GCTB 患者中没有报道过。

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