Bernstock Joshua D, Karandikar Paramesh V, Chen Jason A, Seidlitz Jakob, Friedman Gregory K, Meredith David M, Liu Kevin X, Haas-Kogan Daphne, Reardon David A, Peruzzi Pier Paolo
Department of Neurosurgery, Brigham and Women's Hospital, Boston, MA, United States.
Department of Neurosurgery, Boston Children's Hospital, Boston, MA, United States.
Front Surg. 2024 May 22;11:1356660. doi: 10.3389/fsurg.2024.1356660. eCollection 2024.
Intrinsic, expansile pontine tumors typically occur in the pediatric population. These tumors characteristically present as diffuse intrinsic pontine glioma (DIPG), which is now considered as diffuse midline glioma (DMG), H3K27-mutated of the pons. DIPG has limited treatment options and a poor prognosis, and the value of tissue diagnosis from an invasive biopsy remains controversial. This study presents the case of a 19-year-old female with clinical and imaging hallmarks of DIPG, who underwent a biopsy of a tumor in the region of the right middle cerebellar peduncle. Her lesional cells were negative for H3K27M alterations and had low-grade histologic features. Next-generation sequencing revealed a frameshift mutation in the gene as the likely driver mutation. These features suggest a diagnosis of a low-grade glioma associated with loss of function, with far-reaching consequences regarding both treatment strategy and prognosis. This case provides support for the utility of diagnostic tissue biopsy in cases of suspected DIPG.
脑干原发性膨胀性肿瘤通常发生于儿童群体。这些肿瘤典型地表现为弥漫性脑干胶质瘤（DIPG），现被认为是弥漫性中线胶质瘤（DMG），即脑桥H3K27突变型。DIPG的治疗选择有限且预后较差，通过侵入性活检进行组织诊断的价值仍存在争议。本研究报告了一名19岁女性病例，该患者具有DIPG的临床和影像学特征，其右中小脑脚区域的肿瘤接受了活检。她的病变细胞H3K27M改变呈阴性，具有低级别组织学特征。二代测序显示该基因存在移码突变，可能是驱动突变。这些特征提示诊断为与功能丧失相关的低级别胶质瘤，这对治疗策略和预后都有深远影响。该病例为疑似DIPG病例中诊断性组织活检的实用性提供了支持。
