Chik Constance L, van Landeghem Frank K H, Easaw Jacob C, Mehta Vivek
Division of Endocrinology and Metabolism, Department of Medicine, University of Alberta, Edmonton, AB T6G 2G3, Canada.
Department of Laboratory Medicine & Pathology, University of Alberta, Walter Mackenzie Health Sciences Centre, Edmonton, AB T6G 2B7, Canada.
J Endocr Soc. 2021 Mar 16;5(5):bvab043. doi: 10.1210/jendso/bvab043. eCollection 2021 May 1.
The papillary subtype of craniopharyngioma (CP) rarely occurs in children and commonly presents as a suprasellar lesion. Patients with papillary CPs frequently harbor the -V600E mutation, and treatment with a BRAF inhibitor results in tumor shrinkage in several patients. Herein, we report a patient with childhood-onset papillary CP treated with vemurafenib for 40 months after multiple surgeries. At age 10, he presented with growth failure secondary to an intrasellar cystic lesion. He had 3 transsphenoidal surgeries before age 12 and a 4 surgery 25 years later for massive tumor recurrence. Pathology showed a papillary CP with positive -V600E mutation. Rapid tumor regrowth 4 months after surgery led to treatment with vemurafenib that resulted in tumor reduction within 6 weeks. Gradual tumor regrowth occurred after a dose reduction of vemurafenib because of elevated liver enzymes. He had further surgeries and within 7 weeks after stopping vemurafenib, there was massive tumor recurrence. He resumed treatment with vemurafenib before radiation therapy and similar tumor shrinkage occurred within 16 days. In this patient with childhood-onset papillary CP that was refractory to multiple surgeries, the use of vemurafenib resulted in significant tumor shrinkage that allowed for the completion of radiation therapy and tumor control.
颅咽管瘤（CP）的乳头型在儿童中很少见，通常表现为鞍上病变。乳头型CP患者经常携带-V600E突变，使用BRAF抑制剂治疗可使部分患者肿瘤缩小。在此，我们报告一名儿童期发病的乳头型CP患者，在多次手术后接受维莫非尼治疗40个月。10岁时，他因鞍内囊性病变出现生长发育迟缓。12岁前他接受了3次经蝶窦手术，25年后因肿瘤大量复发接受了第4次手术。病理显示为乳头型CP，-V600E突变呈阳性。术后4个月肿瘤迅速复发，导致使用维莫非尼治疗，6周内肿瘤缩小。由于肝酶升高，维莫非尼剂量减少后肿瘤逐渐复发。他又接受了进一步手术，在停用维莫非尼7周内，肿瘤大量复发。在放疗前他重新开始使用维莫非尼治疗，16天内肿瘤出现类似缩小。在这名对多次手术难治的儿童期发病的乳头型CP患者中，使用维莫非尼导致肿瘤显著缩小，从而能够完成放疗并控制肿瘤。
