PathWest Laboratory Medicine, QEII Medical Centre.
School of Medical and Health Sciences, Edith Cowan University.
Curr Opin Pulm Med. 2019 Jul;25(4):354-361. doi: 10.1097/MCP.0000000000000578.
Malignant pleural mesothelioma (MPM) is a universally fatal illness with a rising incidence, particularly in developing countries. The diagnosis can be challenging and require repeated investigations with implications for the patient and healthcare system.
Distinguishing between benign/reactive and malignant mesothelial proliferations can be challenging. Cytological diagnosis of MPM from pleural fluid is as reliable as histological analysis of tissue biopsies in epithelioid MPM - an approach endorsed by the International Academy of Cytology. Identification of BRCA1-associated protein 1 (BAP1) and cyclin-dependent kinase inhibitor 2A (CDKN2A) gene mutations in MPM have led to the development of new ancillary tests that can streamline the diagnostic pathway. The prognostic values of these molecules are being investigated. Clinicians should be aware of the recently described BAP1 tumor predisposition syndrome and offer genetic investigations in potential patients. Routine use of prophylactic radiotherapy in MPM patients after pleural interventions has been disproved in a randomized trial.
Diagnosis of epithelioid MPM can be established on pleural fluid analysis in most patients. The use of BAP1 immunostaining and CDKN2A/p16 fluorescence in-situ hybridization are particularly useful in distinguishing benign from malignant mesothelial proliferations. Clinicians should ensure these investigations are available in the pathological assessment of cases to minimize invasive investigations and the associated risks.
恶性胸膜间皮瘤(MPM)是一种普遍致命的疾病,发病率不断上升,尤其是在发展中国家。诊断具有挑战性,需要反复检查,这对患者和医疗系统都有影响。
区分良性/反应性和恶性间皮增生具有挑战性。从胸腔积液中对 MPM 的细胞学诊断与组织活检的组织学分析一样可靠——这一方法得到了国际细胞学协会的认可。在 MPM 中鉴定出 BRCA1 相关蛋白 1(BAP1)和细胞周期蛋白依赖性激酶抑制剂 2A(CDKN2A)基因突变,导致了新辅助检测方法的发展,这些方法可以简化诊断途径。这些分子的预后价值正在研究中。临床医生应该意识到最近描述的 BAP1 肿瘤易感性综合征,并为潜在患者提供遗传研究。在一项随机试验中,已经证明在胸膜介入后预防性放疗在 MPM 患者中是无效的。
在大多数患者中,通过胸腔积液分析可以确立上皮样 MPM 的诊断。BAP1 免疫染色和 CDKN2A/p16 荧光原位杂交在区分良性和恶性间皮增生方面特别有用。临床医生应确保在病理评估病例时可进行这些检查,以尽量减少侵入性检查及其相关风险。