Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA.
Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA; Division of Pediatric Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, WA.
Genet Med. 2022 Nov;24(11):2318-2328. doi: 10.1016/j.gim.2022.07.026. Epub 2022 Sep 6.
PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL). We describe prospective treatment of 5 children with PIK3CA-associated HNLMs or head and neck FIL with alpelisib monotherapy.
A total of 5 children with PIK3CA-associated HNLMs (n = 4) or FIL (n = 1) received alpelisib monotherapy (aged 2-12 years). Treatment response was determined by parental report, clinical evaluation, diary/questionnaire, and standardized clinical photography, measuring facial volume through 3-dimensional photos and magnetic resonance imaging.
All participants had reduction in the size of lesion, and all had improvement or resolution of malformation inflammation/pain/bleeding. Common invasive therapy was avoided (ie, tracheotomy). After 6 or more months of alpelisib therapy, facial volume was reduced (range 1%-20%) and magnetic resonance imaging anomaly volume (range 0%-23%) were reduced, and there was improvement in swallowing, upper airway patency, and speech clarity.
Individuals with head and neck PROS treated with alpelisib had decreased malformation size and locoregional overgrowth, improved function and symptoms, and fewer invasive procedures.
头颈部 PI3KCA 相关过度生长谱（PROS）疾病的治疗颇具挑战。传统上，这些疾病需要多次侵入性干预，但畸形清除不完全，存在毁容风险，且可能导致功能障碍。先前已证实 PI3K 抑制剂阿培利司在 PROS 中有效，但其在 PI3KCA 相关头颈部淋巴管瘤（HNLMs）或头颈部浸润性脂肪瘤（FIL）中的应用尚未见报道。我们描述了使用阿培利司单药治疗 5 例 PI3KCA 相关 HNLMs 或头颈部 FIL 患儿的前瞻性治疗。
5 例 PI3KCA 相关 HNLMs（n=4）或 FIL（n=1）患儿接受阿培利司单药治疗（年龄 2-12 岁）。通过家长报告、临床评估、日记/问卷和标准化临床摄影来确定治疗反应，通过 3 维照片和磁共振成像测量面部体积，以评估面部体积。
所有参与者的病变大小均缩小，所有参与者的畸形炎症/疼痛/出血均改善或消退。避免了常见的侵入性治疗（如气管切开术）。在接受阿培利司治疗 6 个月或更长时间后，面部体积缩小（范围 1%-20%），磁共振成像异常体积缩小（范围 0%-23%），吞咽、上呼吸道通畅性和言语清晰度改善。
用阿培利司治疗头颈部 PROS 的个体，其畸形大小和局部过度生长减少，功能和症状改善，侵入性操作减少。
