A Hepatocellular Carcinoma Patient with TSC1 Mutations Benefits from Treatment with Everolimus: A Case Report

Hua-Sheng Shi; Shuo Wang; Man-Jiang Li; Li-Qun Wu

doi:10.1159/000505950

A Hepatocellular Carcinoma Patient with TSC1 Mutations Benefits from Treatment with Everolimus: A Case Report

Visc Med. 2021 Mar;37(2):116-119. doi: 10.1159/000505950. Epub 2020 May 27.

Authors

Hua-Sheng Shi^{1

2}, Shuo Wang^{1

2}, Man-Jiang Li^{1

2}, Li-Qun Wu^{1

2}

Affiliations

¹ Liver Disease Center, Affiliated Hospital of Qingdao University, Qingdao, China.
² Medical College of Qingdao University, Qingdao University, Qingdao, China.

Abstract

Hepatocellular carcinoma (HCC) has a high degree of malignancy and poor prognosis. Treatment options for patients with advanced HCC are limited. There is currently no evidence to approve the accumulation of targeted therapies for HCC to support the inhibition of the PI3K/Akt/mTOR signaling pathway as an effective therapeutic strategy. We report on a patient with advanced HCC carrying the TSC1 gene mutation who responded well to the mammalian target of rapamycin inhibitor everolimus. Computed tomography revealed tumor shrinkage and maintenance of partial remission after everolimus treatment for >12.3 months. To the best of our knowledge, this is the first clinical case report showing benefit from everolimus treatment in HCC patients with TSC1 gene mutations. Therefore, everolimus may be used as a potential targeted therapy for HCC with TSC1 gene mutation.

Keywords: Everolimus; Hepatocellular carcinoma; Mammalian target of rapamycin; Next-generation sequencing; Targeted therapy.

Publication types

Case Reports