Intracranial angioleiomyoma mimicking meningioma: an uncommon tumor with favorable outcome and frequent GJA4 mutation.

Autor: Ren L; Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.; Institute of Neurosurgery, Fudan University, Shanghai, China., Wang H; Department of Anesthesiology, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, China., Zhang J; Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China., Wu T; Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China., Deng J; Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.; Institute of Neurosurgery, Fudan University, Shanghai, China., Hua L; Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.; Institute of Neurosurgery, Fudan University, Shanghai, China., Cheng H; Department of Pathology, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, China., Wakimoto H; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Xie Q; Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.; Institute of Neurosurgery, Fudan University, Shanghai, China.; Department of Anesthesiology, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, China., Gong Y; Department of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China. drgongye@163.com.; Department of Critical Care Medicine, Shanghai Medical College, Huashan Hospital, Fudan University, Shanghai, China. drgongye@163.com.
Jazyk: angličtina
Zdroj: Neurosurgical review [Neurosurg Rev] 2024 Nov 11; Vol. 47 (1), pp. 842. Date of Electronic Publication: 2024 Nov 11.
DOI: 10.1007/s10143-024-03079-4
Abstrakt: Intracranial angioleiomyoma (IALM) is a rare neoplasm mimicking meningioma. We aimed to explore the clinical and molecular characteristics of IALMs. We included 40 patients with IALMs who had tumor resection at our center from 2009 to 2022. Clinicopathological and radiological characteristics were extracted and analyzed thoroughly. GJA4 mutation status was detected and correlated with clinical characteristics. IALMs accounted for about 10% of all angioleiomyoma and had a significant male predominance compared to extracranial angioleiomyoma (p=0.04). However, there was no age difference between extracranial angioleiomyomas and IALMs. In our IALM cohort, orbital (35%) were the most common tumor location, followed by tentorium (25.0%), cavernous sinuous (17.5%). Vision decrease, diplopia and exophthalmos (40%) were the most common symptom. The radiological characteristics of ILAMs were similar to meningiomas; 20 patients (57.1%) in our cohort were misdiagnosed as meningioma preoperatively. Gross total resection was achieved in all patients. The postoperative pathology showed median Ki-67 index was 1% (range: 0-10%). Vision improvement or exophthalmos relief was achieved in 12 of 16 patients (75.0%). During the long-term follow-up (mean 70.3 months, range 30 - 128 months), no patient experienced tumor recurrence or died of tumor progression, indicating that IALM was clinically benign. GJA4 mutation (p. Gly41Cys) was detected in 17 (42.5%) patients. Of note, the correlations analysis revealed that orbital and cavernous sinus areas (64.7%) were the leading location that harbor GJA4 mutations. Tumors with mutant GJA4 were associated with positive progesterone receptor (PR) expression (p=0.02). This first large case series demonstrated that IALM predominantly affected males, was located in the cavernous sinus and orbital areas, and often manifested visual impairment and diplopia. IALM had favorable outcome. Notably, IALMs frequently exhibited a GJA4 mutation, which was linked to the cavernous sinus and orbital locations, as well as PR expression.
Competing Interests: Declarations Ethics approval and consent to participate This study used publicly available datasets and the ethics approval and consent to participate was not applicable. Consent for publication The authors consent for publication. Competing interests The authors declare no competing interests.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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