AlAnsari Ghada A, Bukhari Nedal, Abdulkader Marwah M, Alotain Ibrahim, Taha Mahmoud S
Department of Neurosurgery, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Department of Medical Oncology, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
AME Case Rep. 2022 Oct 30;6:36. doi: 10.21037/acr-22-8. eCollection 2022.
Meningiomas are usually associated with neurofibromatosis type 2 (NF-2), while gliomas are usually associated with neurofibromatosis type 1 (NF-1). NF-1 is an autosomal dominant genetic disorder associated with skin manifestations, bone conditions, and different types of benign and malignant tumors. Grade 3 anaplastic meningiomas are rare tumors with a poor prognosis. Systemic treatments in grade 3 meningiomas are experimental, with some reports suggestive of minimal clinical benefits. They are used occasionally for recurrent cases with no surgical or radiotherapy roles. In our case, we will focus the discussion on grade 3 anaplastic meningioma in a patient with NF-1, using chemotherapy for this aggressive, recurrent tumor. To our knowledge, this is the first case of NF-1 associated with malignant anaplastic meningioma in English literature.
In this case report, we present a 25-year-old left-handed female patient who fits the diagnostic criteria for NF-1. She presented with focal seizure and was diagnosed with grade 3 anaplastic meningioma, a highly aggressive tumor. She experienced a rapid recurrence after her initial surgery and eventually received multiple lines of treatments, including radiation and chemotherapy [temozolomide (TMZ)].
Systemic therapy in grade 3 meningiomas is still experimental and may have a slight clinical benefit. As a result, further prospective, multicentric studies are needed to ascertain these outcomes. Patients should be included in prospective trials because of the poor prognosis and aggressive nature of grade 3 meningiomas. In addition, discovering specific molecular biomarkers will allow us to suggest an individualized treatment. This case suggests that the differential diagnosis of a mass in a patient with NF-1 should include tumors known to be associated with the syndrome as well as sporadic, unrelated neoplasms.
脑膜瘤通常与2型神经纤维瘤病（NF - 2）相关，而胶质瘤通常与1型神经纤维瘤病（NF - 1）相关。NF - 1是一种常染色体显性遗传病，与皮肤表现、骨骼疾病以及不同类型的良性和恶性肿瘤有关。3级间变性脑膜瘤是罕见肿瘤，预后较差。3级脑膜瘤的全身治疗仍处于试验阶段，一些报告显示临床获益甚微。它们偶尔用于不适合手术或放疗的复发病例。在我们的病例中，我们将重点讨论一名患有NF - 1的患者的3级间变性脑膜瘤，针对这种侵袭性复发性肿瘤采用化疗。据我们所知，这是英文文献中首例与恶性间变性脑膜瘤相关的NF - 1病例。
在本病例报告中，我们介绍了一名符合NF - 1诊断标准的25岁左利手女性患者。她因局灶性癫痫发作就诊，被诊断为3级间变性脑膜瘤，这是一种高度侵袭性肿瘤。她在初次手术后迅速复发，最终接受了多种治疗，包括放疗和化疗[替莫唑胺（TMZ）]。
3级脑膜瘤的全身治疗仍处于试验阶段，可能仅有轻微临床获益。因此，需要进一步开展前瞻性、多中心研究以确定这些结果。由于3级脑膜瘤预后差且具有侵袭性，患者应纳入前瞻性试验。此外，发现特定的分子生物标志物将有助于我们提出个体化治疗方案。该病例表明，对NF - 1患者肿块的鉴别诊断应包括已知与该综合征相关的肿瘤以及散发性、不相关的肿瘤。
