Kosteniuk Suzanne Elizabeth, Michaiel George, Dunham Christopher
Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB T2N 4Z6, Canada.
Division of Hematology/Oncology/BMT, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, BC V6H 3N1, Canada.
Brain Sci. 2023 Jul 8;13(7):1040. doi: 10.3390/brainsci13071040.
syndrome is a tumor predisposition syndrome caused by abnormal micro-RNA processing which leads to a variety of benign and malignant neoplasms in many organ systems, including the central nervous system. This paper reports the case of a primary intracranial sarcoma, -mutant, in a patient with a germline variant thought most likely to be de novo. The patient is a ten-year-old boy who presented acutely with altered level of consciousness, emesis, and left-sided weakness. Imaging revealed a large right frontal hemorrhagic lesion, which was urgently debulked. Histology demonstrated a high-grade sarcomatous lesion. Molecular studies revealed compound heterozygous variants (a frame shift insertion and a missense mutation), and a KRAS missense mutation. The final pathologic diagnosis was rendered to be "primary intracranial sarcoma, -mutant". Germline genetic testing revealed that the patient possessed a germline variant (parental testing was negative). A dramatic reduction in tumor size was precipitated via chemotherapy (ifosfamide, carboplatin, and etoposide) and radiotherapy (focal proton beam therapy). There was no evidence of residual disease at the primary site at the end of the therapy.
综合征是一种由微小RNA加工异常引起的肿瘤易感性综合征，可导致许多器官系统出现多种良性和恶性肿瘤，包括中枢神经系统。本文报告了一例原发性颅内肉瘤患者，该患者存在种系变异，最有可能是新发变异，为-突变型。患者是一名10岁男孩，急性起病，有意识水平改变、呕吐和左侧肢体无力症状。影像学检查发现右侧额叶有一个大的出血性病变，遂紧急进行了肿瘤减积手术。组织学检查显示为高级别肉瘤样病变。分子研究发现了复合杂合变异（一个移码插入和一个错义突变）以及一个KRAS错义突变。最终病理诊断为“原发性颅内肉瘤，-突变型”。种系基因检测显示患者存在种系变异（父母检测为阴性）。通过化疗（异环磷酰胺、卡铂和依托泊苷）和放疗（局部质子束治疗），肿瘤大小显著缩小。治疗结束时，原发部位没有残留疾病的证据。
