Pediatric Hematology/Oncology and Bone Marrow Transplantation Program, Children's Hospital of Michigan, Central Michigan University and Wayne State University School of Medicine.
Pediatric Neurosurgery Department, Children's Hospital of Michigan, Wayne State University School of Medicine.
J Pediatr Hematol Oncol. 2023 Apr 1;45(3):e406-e409. doi: 10.1097/MPH.0000000000002518. Epub 2022 Aug 30.
DICER1 syndrome is a rare inherited tumor predisposition syndrome associated with an increased risk for several malignant and benign tumors. We present a patient with pineal parenchymal tumor of intermediate differentiation who was found to have a germline pathogenic variant in DICER1 gene. Pineoblastoma is a known DICER1-related tumor; however, the association between pineal parenchymal tumor of intermediate differentiation and DICER1 mutation is rare with only 1 recent large molecular study that has reported this association. This report adds to the evolving tumor spectrum of DICER1 and highlights the importance of molecular evaluation of pediatric brain tumors, for both therapeutic decisions and long-term surveillance.
DICER1 综合征是一种罕见的遗传性肿瘤易感性综合征，与多种恶性和良性肿瘤的风险增加有关。我们报告了一例具有中等分化的松果体实质肿瘤的患者，该患者在 DICER1 基因中发现了种系致病性变异。成松果体细胞瘤是一种已知的 DICER1 相关肿瘤；然而，只有最近的一项大型分子研究报道了中等分化的松果体实质肿瘤与 DICER1 突变之间的关联，这种关联非常罕见。本报告增加了 DICER1 的不断发展的肿瘤谱，并强调了对儿科脑肿瘤进行分子评估的重要性，这对于治疗决策和长期监测都很重要。
