Cortiana Viviana, Chorya Harshal, Joshi Muskan, Kannan Shreevikaa, Mahendru Diksha, Vallabhaneni Harshitha, Coloma Helena S, Leyfman Yan, Park Chandler H
Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40126 Bologna, Italy.
Medical College Baroda, Vadodara 390018, India.
Cancers (Basel). 2024 Feb 1;16(3):632. doi: 10.3390/cancers16030632.
This paper provides insights into the conventional understanding of biliary tract malignancies, with a specific focus on cholangiocarcinoma (CCA). We then delve into the groundbreaking ideas presented by Dr. James Cleary. CCA, originating from biliary tree cells, manifests diverse subtypes contingent upon anatomical localization and differentiation status. These variants exhibit discrete genetic aberrations, yielding disparate clinical phenotypes and therapeutic modalities. Intrahepatic, perihilar, and distal CCAs intricately involve distinct segments of the biliary tree, further categorized as well-differentiated, moderately differentiated, or poorly differentiated adenocarcinomas based on their histological differentiation. Understanding the etiological factors contributing to CCA development assumes paramount importance. Stratifying these factors into two groups, those unrelated to fluke infestations (e.g., viral hepatitis and fatty liver conditions) and those associated with fluke infestations (e.g., chronic liver inflammation), facilitates predictive modeling. The epidemiology of CCA exhibits global variability, with Southeast Asia notably displaying higher incidences attributed primarily to liver fluke infestations. Jaundice resulting from bile duct obstruction constitutes a prevalent clinical manifestation of CCA, alongside symptoms like malaise, weight loss, and abdominal pain. Diagnostic challenges arise due to the symptomatic overlap with other biliary disorders. Employing comprehensive liver function tests and imaging modalities such as computed tomography assumes a pivotal role in ensuring accurate diagnosis and staging. However, the definitive confirmation of CCA necessitates a biopsy. Treatment modalities, predominantly encompassing surgical resection and radiation therapy, hold curative potential, although a considerable subset of patients is deemed unresectable upon exploration. Challenges intensify, particularly in cases classified as cancer of unknown origin, underscoring the imperative for early intervention. Advancements in genomic sequencing have revolutionized precision medicine in CCA. Distinct genomic markers, including fibroblast growth factor receptor 2 (FGFR2) alterations and isocitrate dehydrogenase 1 (IDH1) mutations, have emerged as promising therapeutic targets. FGFR2 alterations, encompassing mutations and rearrangements, play pivotal roles in oncogenesis, with FGFR inhibitors demonstrating promise despite identified resistance mechanisms. Similarly, IDH1 inhibitors face challenges with resistance, despite encouraging early clinical trial results, prompting exploration of novel irreversible inhibitors. Dr. James Cleary's illuminating discourse underscores the significance of diverse FGFR2 alterations and the potential of IDH1 inhibition in reshaping the treatment landscape for CCA. These findings unveil critical avenues for targeted therapeutic interventions, emphasizing the critical need for ongoing research to optimize outcomes in this challenging cancer subtype, incorporating innovative insights from Dr. Cleary.
本文深入探讨了对胆道恶性肿瘤的传统理解,特别聚焦于胆管癌(CCA)。然后我们深入研究了詹姆斯·克利里博士提出的开创性观点。CCA起源于胆管树细胞,根据解剖定位和分化状态表现出不同的亚型。这些变体表现出不同的基因畸变,产生不同的临床表型和治疗方式。肝内、肝门周围和远端CCA复杂地涉及胆管树的不同节段,根据组织学分化进一步分为高分化、中分化或低分化腺癌。了解促成CCA发生的病因因素至关重要。将这些因素分为两组,即与吸虫感染无关的因素(如病毒性肝炎和脂肪肝情况)和与吸虫感染相关的因素(如慢性肝脏炎症),有助于进行预测建模。CCA的流行病学呈现全球差异,东南亚地区的发病率尤其高,主要归因于肝吸虫感染。胆管阻塞导致的黄疸是CCA的常见临床表现,同时伴有不适、体重减轻和腹痛等症状。由于与其他胆道疾病存在症状重叠,诊断面临挑战。采用全面的肝功能检查和计算机断层扫描等成像方式对于确保准确诊断和分期起着关键作用。然而,CCA的确诊需要活检。治疗方式主要包括手术切除和放射治疗,具有治愈潜力,尽管相当一部分患者在探查时被认为无法切除。挑战加剧,特别是在分类为不明原发癌的病例中,这凸显了早期干预的紧迫性。基因组测序的进展彻底改变了CCA的精准医学。不同的基因组标记,包括成纤维细胞生长因子受体2(FGFR2)改变和异柠檬酸脱氢酶1(IDH1)突变,已成为有前景的治疗靶点。FGFR2改变,包括突变和重排,在肿瘤发生中起关键作用,尽管已发现耐药机制,但FGFR抑制剂仍显示出前景。同样,尽管早期临床试验结果令人鼓舞,但IDH1抑制剂也面临耐药挑战,促使人们探索新型不可逆抑制剂。詹姆斯·克利里博士富有启发性的论述强调了不同FGFR2改变的重要性以及IDH1抑制在重塑CCA治疗格局方面的潜力。这些发现揭示了靶向治疗干预的关键途径,强调了持续研究的迫切需求,以便在这种具有挑战性的癌症亚型中优化治疗结果,并纳入克利里博士的创新见解。