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1例罕见的巨大颅内卵黄囊瘤表现为婴儿眼眶肿物:病例报告及文献复习

A rare case of huge intracranial yolk sac tumor presenting as an orbital mass in an infant: case report and literature review.

作者信息

Arega Gashaw, Moges Melaku, Tirist Abinzer, Hailemariam Tseganesh Mekonnen, Abdo Isa Salo, Abrar Fadil Nuredin, Aliye Ilili Amin

机构信息

Department of Pediatrics and Child Health, Division of Hematology and Oncology, Addis Ababa University, Addis Ababa, Ethiopia.

Department of Surgery, Neurosurgery Unit, Addis Ababa University, Addis Ababa, Ethiopia.

出版信息

Discov Oncol. 2024 Dec 18;15(1):755. doi: 10.1007/s12672-024-01673-y.

Abstract

Primary intracranial yolk sac tumor (YST) with orbital involvement is an exceedingly rare extragonadal germ cell tumor, with only a limited number of cases reported in the literature. Clinically, primary intracranial yolk sac tumor with orbital involvement may present with symptoms that mimic more common benign or malignant orbital disorders in children, potentially leading to diagnostic delays that can adversely impact survival. Diagnostic imaging modalities, including computed tomography (CT) and magnetic resonance imaging (MRI), are instrumental for assessing the tumor's size, precise localization, and extent. Definitive diagnosis relies on serum and cerebrospinal fluid (CSF) alpha-fetoprotein (AFP) levels and histopathological evaluation of biopsy samples. Multimodal therapy with surgery, chemotherapy, and radiotherapy is the cornerstone of therapy. Our case report showed a primary intracranial yolk sac tumor with orbital extension in a 10-month-old infant, and brain Magnetic Resonance Imaging (MRI) revealed a heterogenous suprasellar, parasellar mass with orbital extension. The infant underwent radical left globe exenteration, left pterional craniotomy, and subtotal resection of the tumor. The histopathology and the elevated AFP biomarkers confirmed the diagnosis of the primary intracranial yolk sac tumor.

摘要

原发性颅内卵黄囊瘤(YST)合并眼眶受累是一种极为罕见的性腺外生殖细胞肿瘤,文献中报道的病例数量有限。临床上,原发性颅内卵黄囊瘤合并眼眶受累可能表现出类似于儿童更常见的良性或恶性眼眶疾病的症状,这可能导致诊断延迟,进而对生存产生不利影响。包括计算机断层扫描(CT)和磁共振成像(MRI)在内的诊断成像方式有助于评估肿瘤的大小、精确位置和范围。明确诊断依赖于血清和脑脊液(CSF)甲胎蛋白(AFP)水平以及活检样本的组织病理学评估。手术、化疗和放疗的多模式治疗是治疗的基石。我们的病例报告显示一名10个月大婴儿患有原发性颅内卵黄囊瘤并累及眼眶,脑部磁共振成像(MRI)显示鞍上、鞍旁有一个异质性肿块并累及眼眶。该婴儿接受了左侧眼球根治性摘除术、左侧翼点开颅术和肿瘤次全切除术。组织病理学检查和升高的AFP生物标志物证实了原发性颅内卵黄囊瘤的诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa14/11655776/2e3eae5ab596/12672_2024_1673_Fig1_HTML.jpg

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本文引用的文献

1
Yolk sac tumours of the orbit and sinonasal tract.眼眶和鼻窦道的卵黄囊瘤。
Orbit. 2022 Dec;41(6):680-686. doi: 10.1080/01676830.2022.2106375. Epub 2022 Aug 8.
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Primary orbital yolk sac tumor presenting as fungating mass.原发性眼眶卵黄囊瘤表现为蕈样肿块。
Orbit. 2023 Aug;42(4):459-462. doi: 10.1080/01676830.2022.2037142. Epub 2022 Mar 8.
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Yolk sac tumor of upper lip: A case report.上唇卵黄囊瘤:一例报告。
Oncol Lett. 2017 Nov;14(5):6238-6242. doi: 10.3892/ol.2017.6918. Epub 2017 Sep 8.
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Primary orbital yolk sac tumor: report of a case and review of literature.原发性眼眶卵黄囊瘤:1例报告并文献复习
Int Ophthalmol. 2016 Jun;36(3):435-44. doi: 10.1007/s10792-015-0142-y. Epub 2015 Oct 19.
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