Engle Joshua A, Dibb James T, Jakob John A
Department of Medicine, Summa Health, Akron, USA.
Department of Medical Oncology, Summa Health, Akron, USA.
Cureus. 2024 Aug 29;16(8):e68132. doi: 10.7759/cureus.68132. eCollection 2024 Aug.
Hepatocellular carcinoma (HCC) is the most common type of liver cancer and one of the leading causes of cancer-related deaths worldwide. Tumor mutational burden (TMB) in a cancer specimen represents the number of mutations within a pre-determined length of genetic material. This value is increasingly investigated as it may correlate with both prognosis and cancer response to developing immunotherapies. Its role in HCC, however, is still unclear as it tends to exist in a lower range. We present the case of a 72-year-old female diagnosed with HCC that was diffusely spread throughout the liver without evidence of metastatic disease. Genetic analysis of a liver biopsy revealed a TMB of 87 mutations per megabase which is extremely high for HCC. The patient was treated with tremelimumab and durvalumab but passed away shortly afterward due to decompensation from her disease. This case highlights the importance of continuing to research TMB and its correlation with this cancer. An HCC case with an exceptionally high TMB that progressed rapidly, like this one, indicates the continued need to study markers such as TMB, especially in outlier cases, for prognostication and appropriate stratification of immunotherapy response. This case shows an instance of a non-metastatic but still aggressive HCC that was diagnosed too late for assessing therapy response. In this instance, the high TMB would point toward a worse prognosis, but further study of high-TMB cases is necessary to support a correlation. Given the prevalence of HCC worldwide, any potential avenues that could help guide clinical decision-making should be explored.
肝细胞癌（HCC）是最常见的肝癌类型，也是全球癌症相关死亡的主要原因之一。癌症标本中的肿瘤突变负荷（TMB）代表了预先确定长度的遗传物质内的突变数量。由于该值可能与预后以及癌症对免疫疗法的反应相关，因此对其研究越来越多。然而，它在HCC中的作用仍不清楚，因为其值往往处于较低范围。我们报告了一例72岁女性诊断为HCC的病例，肿瘤在肝脏中弥漫性扩散，无转移疾病证据。肝脏活检的基因分析显示，TMB为每兆碱基87个突变，这对于HCC来说极高。患者接受了曲美木单抗和度伐利尤单抗治疗，但随后不久因疾病失代偿而死亡。该病例突出了继续研究TMB及其与这种癌症相关性的重要性。像这样TMB异常高且进展迅速的HCC病例表明，持续需要研究TMB等标志物，特别是在异常病例中，用于预后评估和免疫治疗反应的适当分层。该病例显示了一例非转移性但仍具有侵袭性的HCC，因诊断太晚而无法评估治疗反应。在这种情况下，高TMB表明预后较差，但需要对高TMB病例进行进一步研究以支持这种相关性。鉴于HCC在全球的患病率，应探索任何有助于指导临床决策的潜在途径。
