Abstract：
Craniopharyngioma is a rare, low-grade tumor located in the suprasellar region of the brain, near critical structures like the pituitary gland. Here, we concurrently investigate the status of clinical and genomic data in a retrospective craniopharyngioma cohort and survey-based data to better understand patient-relevant outcomes associated with existing therapies and provide a foundation to inform new treatment strategies.
Clinical, genomic, and outcome data for a retrospective cohort of patients with craniopharyngioma were collected and reviewed through the Children\'s Brain Tumor Network (CBTN) database. An anonymous survey was distributed to patients and families with a diagnosis of craniopharyngioma to understand their experiences throughout diagnosis and treatment.
The CBTN repository revealed a large proportion of patients (40 - 70%) with specimens that are available for sequencing but lacked relevant quality of life (QoL) and functional outcomes. Frequencies of reported patient comorbidities ranged from 20-35%, which is significantly lower than historically reported. Survey results from 159 patients/families identified differences in treatment considerations at time of diagnosis versus time of recurrence. In retrospective review, patients and families identified preference for therapy that would improve QoL, rather than decrease risk of recurrence (mean 3.9 vs. 4.4 of 5) and identified endocrine issues as having the greatest impact on patients\' lives.
This work highlights the importance of prospective collection of QoL and functional metrics alongside robust clinical and molecular correlates in individuals with craniopharyngioma. Such comprehensive measures will facilitate biologically relevant therapeutic strategies that also prioritize patient needs.
Clinical, genomic, and outcome data for a retrospective cohort of patients with craniopharyngioma were collected and reviewed through the Children\'s Brain Tumor Network (CBTN) database. An anonymous survey was distributed to patients and families with a diagnosis of craniopharyngioma to understand their experiences throughout diagnosis and treatment.
The CBTN repository revealed a large proportion of patients (40 - 70%) with specimens that are available for sequencing but lacked relevant quality of life (QoL) and functional outcomes. Frequencies of reported patient comorbidities ranged from 20-35%, which is significantly lower than historically reported. Survey results from 159 patients/families identified differences in treatment considerations at time of diagnosis versus time of recurrence. In retrospective review, patients and families identified preference for therapy that would improve QoL, rather than decrease risk of recurrence (mean 3.9 vs. 4.4 of 5) and identified endocrine issues as having the greatest impact on patients\' lives.
This work highlights the importance of prospective collection of QoL and functional metrics alongside robust clinical and molecular correlates in individuals with craniopharyngioma. Such comprehensive measures will facilitate biologically relevant therapeutic strategies that also prioritize patient needs.
摘要：
背景：颅咽管瘤是一种罕见的，位于大脑鞍上区域的低度肿瘤，靠近脑垂体等关键结构。这里,我们同时调查了颅咽管瘤回顾性队列中的临床和基因组数据状况以及基于调查的数据,以更好地了解与现有治疗相关的患者相关结局,并为新的治疗策略提供依据.
方法：临床，基因组，我们通过儿童脑肿瘤网络(CBTN)数据库收集并审查了颅咽管瘤患者回顾性队列的结果数据.向诊断为颅咽管瘤的患者和家庭分发了一项匿名调查，以了解他们在整个诊断和治疗过程中的经验。
结果：CBTN存储库显示大部分患者（40-70％）的标本可用于测序，但缺乏相关的生活质量（QoL）和功能结局。报告的患者合并症的频率范围为20％至25％，显着低于历史报道。来自159名患者/家庭的调查结果确定了诊断时与复发时治疗考虑因素的差异。在回顾性审查中，患者和家庭确定了对改善QoL的治疗的偏好，而不是降低复发风险(平均3.9vs.4.4of5)andidentifiedendorcissuesashavethegreatestimpactonpatients\'lives.
结论：这项工作强调了在颅咽管瘤患者中前瞻性收集QoL和功能指标以及稳健的临床和分子相关性的重要性。这样的综合措施将促进也优先考虑患者需求的生物学相关治疗策略。
方法：临床，基因组，我们通过儿童脑肿瘤网络(CBTN)数据库收集并审查了颅咽管瘤患者回顾性队列的结果数据.向诊断为颅咽管瘤的患者和家庭分发了一项匿名调查，以了解他们在整个诊断和治疗过程中的经验。
结果：CBTN存储库显示大部分患者（40-70％）的标本可用于测序，但缺乏相关的生活质量（QoL）和功能结局。报告的患者合并症的频率范围为20％至25％，显着低于历史报道。来自159名患者/家庭的调查结果确定了诊断时与复发时治疗考虑因素的差异。在回顾性审查中，患者和家庭确定了对改善QoL的治疗的偏好，而不是降低复发风险(平均3.9vs.4.4of5)andidentifiedendorcissuesashavethegreatestimpactonpatients\'lives.
结论：这项工作强调了在颅咽管瘤患者中前瞻性收集QoL和功能指标以及稳健的临床和分子相关性的重要性。这样的综合措施将促进也优先考虑患者需求的生物学相关治疗策略。
