肿瘤细胞治疗研究
英文原题:Adult-onset refractory retroperitoneal neuroblastoma with diagnostic and therapeutic challenges: a case report and review of literature.
Adult-onset refractory retroperitoneal neuroblastoma with diagnostic and therapeutic challenges: a case report and review of literature.
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本病例凸显了诊断和管理成人发病神经母细胞瘤所面临的挑战,尤其是在无法获得先进诊断和治疗方案的资源有限环境中。成人神经母细胞瘤缺乏标准化治疗方案,这突出表明需要针对情境适应性治疗算法、可负担的分子诊断和具有成本效益的治疗方法开展重点研究,尤其是在资源有限环境中。本报告强调,必须通过协作努力,为难治性神经母细胞瘤等罕见且侵袭性强的恶性肿瘤制定全球可及的治疗策略,尤其是在服务不足地区。
神经母细胞瘤是一种罕见的、侵袭性儿童恶性肿瘤,起源于交感神经系统的神经嵴祖细胞。虽然主要是一种儿童肿瘤,但成人发病的神经母细胞瘤由于其罕见性、缺乏标准化治疗方案以及对治疗反应差,带来了重大的诊断和治疗挑战。本病例报告了一例成人女性难治性腹膜后神经母细胞瘤的独特表现,在资源有限的环境中进行了管理。 病例介绍:一名来自尼泊尔东部达利特社区的41岁女性,表现为2个月腹痛、早饱和腹胀病史。影像学显示一个巨大的腹膜后肿块,包绕重要血管结构。组织病理学和活检证实为神经母细胞瘤,但由于资源限制无法进行细胞遗传学分析。根据国际神经母细胞瘤风险组分期系统,该肿瘤被分类为L2期。由于肿瘤包绕大血管,手术切除被认为不可行。患者接受了8个周期的交替长春新碱、顺铂、依托泊苷和环磷酰胺;以及长春新碱、卡铂、依托泊苷和环磷酰胺化疗方案,结果肿瘤缩小甚微。随后使用替莫唑胺和伊立替康的姑息性化疗也未能诱导显著的肿瘤消退。由于资源限制,诸如CAR-T 细胞疗法等先进治疗选择不可用,使该患者的治疗选择有限。
Neuroblastoma is a rare, aggressive childhood malignancy originating from neural crest progenitor cells of the sympathetic nervous system. While primarily a pediatric tumor, adult-onset neuroblastoma poses significant diagnostic and therapeutic challenges owing to its rarity, absence of standardized treatment protocols, and poor response to therapy. This case highlights a unique presentation of refractory retroperitoneal neuroblastoma in an adult female patient, managed with limited resources in a resource-constrained setting. CASE PRESENTATION: A 41-year-old female from a Dalit community in eastern Nepal presented with a 2-month history of abdominal pain, early satiety, and bloating. Imaging revealed a large retroperitoneal mass encasing critical vascular structures. Histopathology and biopsy confirmed neuroblastoma, but cytogenetic analysis could not be performed owing to resource limitations. The tumor was classified as stage L2 per the International Neuroblastoma Risk Group Staging System. Surgical resection was deemed infeasible owing to tumor encasement of major vessels. The patient was treated with eight cycles of alternating vincristine, cisplatin, etoposide, and cyclophosphamide; and vincristine, carboplatin, etoposide, and cyclophosphamide chemotherapy regimens, resulting in minimal tumor shrinkage. Subsequent palliative chemotherapy with temozolomide and irinotecan also failed to induce significant tumor regression. Advanced therapeutic options such as chimeric antigen receptor T cell therapy were unavailable owing to resource constraints, leaving the patient with limited treatment options.
This case underscores the challenges in diagnosing and managing adult-onset neuroblastoma, particularly in resource-limited settings where advanced diagnostic and therapeutic options are unavailable. The absence of standardized treatment protocols for adult neuroblastoma highlights the need for focused research on context-adapted treatment algorithms, affordable molecular diagnostics, and cost-effective therapeutic approaches, particularly in resource-limited settings. This report emphasizes the importance of collaborative efforts to develop globally accessible treatment strategies for rare and aggressive malignancies such as refractory neuroblastoma, particularly in underserved regions.
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