Department of Pediatric Oncology Comprehensive Cancer Centre, King Fahad Medical City, Riyadh 12231, Saudi Arabia.
Pediatric Neurosurgical Department, King Fahad Medical City, Riyadh 12231, Saudi Arabia.
Curr Oncol. 2022 Oct 10;29(10):7558-7568. doi: 10.3390/curroncol29100595.
The clinical behaviors, prognosis, and appropriate treatments of papillary tumors of the pineal region (PTPR) are not fully defined due to the rarity of these tumors. At diagnosis, PTPR may present with clinical symptoms, including headache with obstructive hydrocephalus, diplopia, vomiting, and lethargy, as well as neurological signs, including Argyll Robertson pupils and Parinaud's syndrome due to compression of the dorsal midbrain, specifically the periaqueductal region with horizontal nystagmus. Radiological assessment of pineal region lesions is challenging, with a wide range of potential differential diagnoses. PTPR typically presents as a heterogeneous, well-circumscribed mass in the pineal region, which might contain cystic areas, calcifications, hemorrhages, or protein accumulations. Here, we report three female pediatric patients with PTPR treated in King Fahad Medical City (KFMC) in Saudi Arabia. Histological and immunohistochemical diagnosis was confirmed by analysis of genome-wide DNA methylation profiles. This case series expands on the available reports on the clinical presentations of PTPR and provides important information on the responses to different treatment modalities.
由于松果体区乳头状肿瘤(PTPR)极为罕见,其临床行为、预后和适当的治疗方法尚未完全确定。在诊断时,PTPR 可能出现头痛伴梗阻性脑积水、复视、呕吐和嗜睡等临床症状,以及由于中脑背侧,特别是导水管周围区域的压迫而出现的阿-罗瞳孔和 Parinaud 综合征等神经体征,伴有水平性眼球震颤。松果体区域病变的放射学评估具有挑战性,存在广泛的潜在鉴别诊断。PTPR 通常表现为松果体区域内边界清楚的异质性肿块,可能包含囊性区域、钙化、出血或蛋白积聚。在此,我们报告了 3 例在沙特阿拉伯法赫德国王医疗城(KFMC)治疗的 PTPR 女性儿科患者。通过全基因组 DNA 甲基化谱分析确认了组织学和免疫组织化学诊断。本病例系列扩展了关于 PTPR 临床表现的现有报告,并提供了有关不同治疗方式反应的重要信息。