Department of Neurosurgery, The Aga Khan University, Karachi, Pakistan.
Department of Paediatric Oncology, The Aga Khan University, Karachi, Pakistan.
J Pak Med Assoc. 2024 Mar;74(3 (Supple-3)):S135-S144. doi: 10.47391/JPMA.S3.GNO-16.
Pineal region tumours are rare and mainly arise at a younger age. They can be categorized into various types: germ cell tumours (GCT), pineal parenchymal tumours (PPT), meningiomas, gliomas, pineoblastoma, pineal parenchymal tumours of intermediate differentiation, papillary tumours of the pineal region, and SMARCB1- mutant desmoplastic myxoid tumour. Within GCT, germinomas are the most prevalent, comprising the majority of tumours in this region, while nongerminomatous GCTs are also present. In rare instances, metastases from other sites may manifest. These tumours often lead to obstructive hydrocephalus and commonly exhibit symptoms related to mass effect, including headache, nausea, vomiting, and impaired gait stability. Different subtypes of pineal region tumours exhibit distinct radiological characteristics, thus imaging remains the primary diagnostic tool. Histologic diagnosis necessitates biopsy, unless in cases of germ cell tumours, particularly germinomas, which can be identified through elevated levels of tumour markers like alpha-fetoprotein (AFP) and human chorionic gonadotropin (HCG) in both cerebrospinal fluid (CSF) and serum. While benign tumours might be effectively treated with radical resection alone, malignant tumours demand additional chemotherapy and radiotherapy following surgical removal.
松果体区肿瘤较为罕见，主要发生于较年轻的人群。它们可以分为多种类型：生殖细胞肿瘤（GCT）、松果体实质肿瘤（PPT）、脑膜瘤、神经胶质瘤、成松果体细胞瘤、中分化的松果体实质肿瘤、松果体区乳头状肿瘤和 SMARCB1 突变型富于细胞性黏液样肿瘤。在 GCT 中，生殖细胞瘤最为常见，占该区域大多数肿瘤，同时也存在非生殖细胞瘤性 GCT。在罕见情况下，可能会出现其他部位的转移。这些肿瘤常导致阻塞性脑积水，并常表现出与肿块效应相关的症状，包括头痛、恶心、呕吐和步态不稳。不同类型的松果体区肿瘤具有不同的影像学特征，因此影像学仍然是主要的诊断工具。组织学诊断需要活检，除非是生殖细胞肿瘤，特别是生殖细胞瘤，它们可以通过脑脊液（CSF）和血清中肿瘤标志物如甲胎蛋白（AFP）和人绒毛膜促性腺激素（HCG）的升高来识别。良性肿瘤可能仅通过根治性切除即可有效治疗，而恶性肿瘤则需要在手术切除后进行额外的化疗和放疗。
