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一名具有rs2740574 TT基因型的亚洲青少年因长春新碱诱发严重双下肢周围神经性肌无力

Severe Vincristine-Induced Peripheral Neuropathic Weakness in Both Lower Limbs in an Asian Adolescent with rs2740574 TT Genotype.

作者信息

Zhang Dongdong, Bai Jie

机构信息

Department of Oncology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, People's Republic of China.

Department of Neurology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, People's Republic of China.

出版信息

Pharmgenomics Pers Med. 2024 Apr 16;17:125-131. doi: 10.2147/PGPM.S460878. eCollection 2024.

Abstract

BACKGROUND

Vincristine (VCR)-induced peripheral neuropathy (VIPN) is a common adverse reaction during cancer treatment, typically characterized by numbness and paresthesias. This study aimed to report a rare case of VIPN with an atypical genotype, manifesting as grade 3 weakness of the lower limbs.

CASE PRESENTATION

A 19-year-old man, diagnosed with alveolar rhabdomyosarcoma for 8 months, was transferred to our hospital for further treatment after the failure of first-line treatment. He developed severe long-standing weakness in both lower limbs and could not walk after four sessions of second-line chemotherapy. The diagnosis of VIPN was confirmed based on the patient's physical examination, imaging studies, electromyogram results, and treatment history. Furthermore, the pharmacogenetic analysis indicated that the patient harbored rs2740574 TT genotypes.

CONCLUSION

We have reported for the first time a VIPN patient whose main clinical manifestation is severe weakness in both lower limbs, accompanied by the rs2740574 TT phenotype. This case may provide new information on the phenotypic features of VIPN, and may help to better understand the disease pathogenesis and contributing factors.

摘要

背景

长春新碱(VCR)引起的周围神经病变(VIPN)是癌症治疗期间常见的不良反应,通常表现为麻木和感觉异常。本研究旨在报告一例具有非典型基因型的罕见VIPN病例,表现为下肢3级肌力减弱。

病例介绍

一名19岁男性,诊断为肺泡横纹肌肉瘤8个月,一线治疗失败后转入我院进一步治疗。在接受四轮二线化疗后,他出现了严重且持续时间较长的双下肢无力,无法行走。根据患者的体格检查、影像学检查、肌电图结果和治疗史,确诊为VIPN。此外,药物遗传学分析表明该患者携带rs2740574 TT基因型。

结论

我们首次报告了一名以双下肢严重无力为主要临床表现,并伴有rs2740574 TT表型的VIPN患者。该病例可能为VIPN的表型特征提供新信息,并有助于更好地理解该疾病的发病机制和影响因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f36/11032159/b3b87ab49596/PGPM-17-125-g0001.jpg

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