Hanona Paul, Ezekwudo Daniel, Anderson Joseph
Beaumont Hospital, Beaumont Health, Royal Oak, MI, United States.
Front Oncol. 2024 Nov 27;14:1464362. doi: 10.3389/fonc.2024.1464362. eCollection 2024.
Papillary craniopharyngiomas are rare tumors prevalent to the precision oncology world due to their high rate of BRAF V600E mutations. Symptoms include vision loss, neuroendocrine dysfunction, and cognitive dysfunction. Treatment involves an interdisciplinary approach with surgery, radiation, and systemic treatment. Recent attention has been directed toward targeted therapy in this space, especially with targets to the BRAF V600E mutated pathway. Focusing on this pathway could solidify future standards of care treatment. A 61-year-old male came in with bilateral homonymous hemianopsia. This prompted a brain MRI that showed a bilobed centrally cystic peripherally enhancing sellar and suprasellar mass with mass effect on the left greater than right optic chiasm and nerves. He underwent a primary resection of the suprasellar cystic tumor, and it was revealed that he had papillary craniopharyngioma. Three months later, he represented with visual defects, and repeat MRI showed cystic recurrence with compression of the optic chiasm. He underwent an endonasal resection of the middle fossa tumor; pathology, this time, showed a BRAF V600E mutated papillary craniopharyngioma. Nine months later, another recurrence happened, and the patient was started on BRAF and MEK inhibitors: dabrafenib (75 mg BID) and trametinib (2 mg daily). The patient has had clinical improvement of visual symptoms and is currently continuing this treatment. He was last seen in October of 2024, and he is clinically stable. The use of targeted therapies is an evolving space for BRAF V600E mutated papillary craniopharyngiomas. This is a case showing improvement of a craniopharyngioma after treatment with BRAF and MEK inhibitor combinations. The role of BRAF and MEK inhibitor combinations continues to evolve in this space.
乳头型颅咽管瘤是一种罕见肿瘤，因其BRAF V600E突变率高而在精准肿瘤学领域受到关注。症状包括视力丧失、神经内分泌功能障碍和认知功能障碍。治疗采用手术、放疗和全身治疗的多学科方法。最近，该领域的注意力已转向靶向治疗，尤其是针对BRAF V600E突变途径的靶点。关注这一途径可能会巩固未来的护理治疗标准。一名61岁男性因双侧同向性偏盲前来就诊。这促使进行脑部MRI检查，结果显示鞍区和鞍上有一个分叶状、中央囊性、周边强化的肿块，对左侧视交叉和神经的占位效应大于右侧。他接受了鞍上囊性肿瘤的初次切除，结果显示为乳头型颅咽管瘤。三个月后，他因视力缺陷再次就诊，复查MRI显示囊性复发并压迫视交叉。他接受了中颅窝肿瘤的鼻内镜切除；此次病理显示为BRAF V600E突变的乳头型颅咽管瘤。九个月后，再次复发，患者开始使用BRAF和MEK抑制剂：达拉非尼（75 mg，每日两次）和曲美替尼（2 mg，每日一次）。患者的视觉症状有了临床改善，目前仍在继续这种治疗。他最后一次就诊是在2024年10月，临床情况稳定。对于BRAF V600E突变的乳头型颅咽管瘤，靶向治疗的应用仍在不断发展。这是一个显示BRAF和MEK抑制剂联合治疗后颅咽管瘤病情改善的病例。BRAF和MEK抑制剂联合治疗在该领域的作用仍在不断演变。
