Rimbu Mirela Claudia, Ungureanu Florin Dan, Moldovan Cosmin, Toba Madalina Elena, Chirila Marinela, Truta Elena, Cord Daniel
Medical Doctoral School, Titu Maiorescu University of Bucharest, 040317 Bucharest, Romania.
Department of General Surgery, Witting Clinical Hospital, 010243 Bucharest, Romania.
Curr Oncol. 2025 Jul 1;32(7):383. doi: 10.3390/curroncol32070383.
Primary hepatic gastrointestinal stromal tumours (PHGISTs) are rare and frequently misdiagnosed due to their atypical presentation and uncertain origin. The purpose of this article is to present the case of a 79-year-old female patient with a gigantic PHGIST characterized by a predominantly cystic nature-an extremely rare presentation, as most cases of PHGIST are solid. Despite extensive imaging and exploratory laparotomy, the primary origin remained uncertain, leading to questioning about whether it was a true primary hepatic GIST or an atypical metastatic lesion. The initial therapeutic approach involved a surgical procedure aimed to confirm the diagnosis and achieve reductive tumourectomy. Following the surgery, the patient was administered imatinib with a favourable clinical response for four and a half years-an atypical pattern of resistance, as most patients typically develop therapeutic resistance within two to three years. A second surgical intervention was performed to address a cystic lesion localized in the left hepatic lobe, followed by an atypical segment III hepatectomy to achieve macroscopic resection. Subsequently, the patient received sunitinib for two and a half years, which resulted in temporary disease stabilization. However, the sunitinib treatment was associated with hypertension and leukopenia. The patient's overall survival was 8 years, suggesting that individualized therapeutic strategies and close monitoring might be the key in such cases. Furthermore, this case confirms the role of surgical intervention even in advanced disease stages, with multiple major resections contributing significantly to prolonged survival. The interplay between surgical and oncologic therapies remains essential to guiding clinical decisions. Given the unusual cystic presentation, this case highlights the necessity to expand the pathological and molecular profiling of PHGISTs. Furthermore, the atypical timeline of resistance development and treatment-related toxicity emphasizes the importance of further research into the genetic and pharmacological determinants of PHGISTs. These findings advocate for the refinement of diagnostic, therapeutic, and surveillance protocols tailored to rare GIST subtypes.
原发性肝胃肠间质瘤（PHGISTs）较为罕见，因其表现不典型且起源不明，常被误诊。本文旨在介绍一例79岁女性患者，其患有巨大的PHGIST，主要特征为囊性——这是一种极为罕见的表现，因为大多数PHGIST病例为实性。尽管进行了广泛的影像学检查和剖腹探查术，但其原发起源仍不明确，这引发了关于它是否为真正的原发性肝胃肠间质瘤或非典型转移性病变的疑问。初始治疗方法包括一项旨在确诊并进行肿瘤减积切除术的外科手术。手术后，患者接受了伊马替尼治疗，临床反应良好，持续了四年半——这是一种非典型的耐药模式，因为大多数患者通常在两到三年内就会产生治疗耐药性。为处理位于左肝叶的一个囊性病变，进行了第二次外科干预，随后进行了非典型的肝段III切除术以实现肉眼下切除。随后，患者接受了两年半的舒尼替尼治疗，病情暂时稳定。然而，舒尼替尼治疗引发了高血压和白细胞减少症。患者的总生存期为8年，这表明个体化治疗策略和密切监测可能是此类病例的关键。此外，该病例证实了即使在疾病晚期，手术干预也具有重要作用，多次大手术对延长生存期有显著贡献。手术和肿瘤治疗之间的相互作用对于指导临床决策仍然至关重要。鉴于这种不寻常的囊性表现，该病例凸显了扩大PHGISTs病理和分子特征分析的必要性。此外，耐药发展的非典型时间线和治疗相关毒性强调了进一步研究PHGISTs遗传和药理学决定因素的重要性。这些发现主张完善针对罕见胃肠间质瘤亚型的诊断、治疗和监测方案。
