在患有 I 型神经纤维瘤病 (NF1) 的儿童和青少年/年轻人 (CAYA) 中，人体测量值、丛状神经纤维瘤 (pNF) 肿瘤体积 (TV) 和治疗史之间的关联尚不清楚。我们回顾性研究了 CAYA 中关于国家癌症的人体测量学研究所 (NCI) NF1 自然史研究通过影像学评估 pNF TV（n = 106）。我们确定了 CDC 身高/体重百分位数并估计了 Preece-Baines (PB) 身高生长曲线参数。我们评估了可能影响身高/体重的变量，包括：(1) pNF 体积，(2) pNF 定向治疗，以及 (3) 血清 IGF-1.23% 的男性和 20% 的女性身高<5%； 13% 的男性体重低于第 5 个百分位。估计男性最终成年身高中位数为 171.6 厘米（CDC 第 23 个百分位），女性为 156.2 厘米（CDC 第 14 个百分位）。观察到身高和体重百分位数与 pNF 体积之间呈负相关（Spearman 的 r = -0.277、-0.216，分别）。接受 MEK 抑制剂 pNF 定向治疗的患者对估计的中位最终身高没有显着影响。 52% 的低血清 IGF-1 测量结果与身高百分位数 < 5 分位数同时发生。身高/体重 < 5 百分位数的患者百分比高于预期，最终成人身高中位数 < CDC 25 百分位数。 pNF 体积与身高/体重百分位数呈负相关。在研究医院就诊的患有 I 型神经纤维瘤病 (NF1) 的儿童和青少年/年轻人的身高和体重百分位数低于正常人群。生长百分位与丛状神经纤维瘤肿瘤体积呈负相关，并且在这部分患者中受 MEKi 治疗史的影响很小。这些发现与之前对 NF1 人群增长的调查结果一致，但也是首次检查与肿瘤负担之间的关系。© 2024。作者获得国际儿科研究基金会 (International Pediatric Research Foundation, Inc.) 的独家许可。

In children and adolescents/young adults (CAYA) with neurofibromatosis type I (NF1), associations between anthropometric measurements, plexiform neurofibroma (pNF) tumor volume (TV), and treatment history are unknown.We retrospectively investigated anthropometrics in CAYA on the National Cancer Institute (NCI) NF1 Natural History Study who had pNF TV assessed by imaging (n = 106). We determined CDC height/weight percentiles and estimated Preece-Baines (PB) height growth curve parameters. We evaluated variables that could impact height/weight including: (1) pNF volume, (2) pNF directed therapy, and (3) serum IGF-1.23% of males and 20% of females had height <5th percentile; 13% of males had weight <5th percentile. Estimated median final adult height for males was 171.6 cm (CDC 23rd percentile) and for females was 156.2 cm (CDC 14th percentile). Inverse associations between height and weight percentiles and pNF volume were observed (Spearman's r = -0.277, -0.216, respectively). Estimated median final height was not meaningfully affected by patients who received pNF-directed treatment with MEK inhibitor. 52% of low serum IGF-1 measurements were concurrent with a height percentile <5th.Greater than expected percentages of patients had height/weight <5th percentile, and median final adult heights were