Despite recent advancements in radiotherapy for Diffuse Intrinsic Pontine Glioma (DIPG), the prognosis of this disease remains poor, highlighting the need for new treatment strategies to improve outcomes. Adding stereotactic biopsy to the diagnostic process for children with DIPG has been crucial in improving the management of this disease. Indeed, the discovery of the H3K27M mutation as a key driver of DIPG has led to the development of new drugs that are more effective than traditional ones. These include nimotuzumab (an anti-EGFR drug) and vinorelbine (a semisynthetic vinca alkaloid) in combination, Panobinostat (a histone deacetylase inhibitor), ONC201 (a drug that blocks the dopamine receptor D2 and inactivates Akt and ERK kinases), and chimeric antigen receptor (CAR) T cells. In terms of local therapy, identifying the H3K27M mutation can help us explore how genetic changes affect treatment response, recurrence patterns, and survival. Beyond the time to first recurrence, specific patterns of tumor recurrence, like leptomeningeal spread, can influence treatment plans. For example, radiotherapy can be adjusted in terms of doses and volumes, based on tumor aggressiveness. Because the H3K27M mutation is linked to higher malignancy, a slightly higher dose could be used for the second round of local irradiation. Additionally, irradiating the entire craniospinal axis could help control both local and leptomeningeal disease.
尽管近年来针对弥漫性内生性脑桥胶质瘤（DIPG）的放射治疗技术有所进展，但该疾病的预后仍然较差，凸显了需要新的治疗策略以改善疗效。在DIPG患儿的诊断过程中加入立体定向活检，对于改善该疾病的管理至关重要。事实上，H3K27M突变作为DIPG关键驱动因素的发现，促进了比传统药物更有效的新药开发。这些药物包括尼妥珠单抗（一种抗EGFR药物）与长春瑞滨（一种半合成长春花生物碱）的联合应用、帕比司他（一种组蛋白去乙酰化酶抑制剂）、ONC201（一种阻断多巴胺受体D2并使Akt和ERK激酶失活的药物）以及嵌合抗原受体（CAR）T细胞。在局部治疗方面，识别H3K27M突变有助于我们探索基因变化如何影响治疗反应、复发模式和生存率。除了首次复发时间外，特定的肿瘤复发模式，如软脑膜扩散，也会影响治疗计划。例如，可以根据肿瘤的侵袭性调整放射治疗的剂量和照射范围。由于H3K27M突变与更高的恶性程度相关，第二轮局部照射可使用略高的剂量。此外，照射整个颅脊轴有助于控制局部和软脑膜疾病。
肿瘤(癌症)患者之家