AI Article Synopsis
- Over 70% of patients with neurofibromatosis type 1 (NF1) exhibit various central nervous system abnormalities, including tumors and non-neoplastic conditions.
- In a study of three cases, lesions initially thought to be non-neoplastic turned out to be jelly-like masses during surgery, suggesting a possible neoplastic nature, despite microscopic analyses showing traits aligning with normal arachnoid cells.
- Molecular tests revealed no definitive signs of cancer, leading researchers to propose that these lesions might represent a rare form of hyperplasia of arachnoid trabecular cells associated with NF1.
Article Abstract
Central nervous system manifestations, a variety of benign and malignant tumors as well as non-neoplastic abnormalities, are found in over 70% of neurofibromatosis type 1 (NF1) patients. Herein, we report hitherto undescribed space-occupying lesions in the setting of NF1. We aimed to clarify their characteristics, especially whether they represent neoplastic or non-neoplastic (hyperplastic) lesions. All 3 cases were preoperatively assessed as non-neoplastic; 2 and 1 cases were suspected to be arachnoid cysts and dilation of subarachnoid space, respectively. However, all lesions were revealed to be whitish jelly-like masses by operation, and the histology composed of spindle cells resembling arachnoid trabecular cells with moderate cellularity and cellular uniformity gave an impression that these lesions may be neoplastic. In contrast, electron microscopic analysis showed that the characteristics of these cells were compatible with those of normal arachnoid trabecular cells. Furthermore, whole-exome sequencing and array comparative genomic hybridization did not show any obvious alterations suggestive of their neoplastic nature. DNA methylation analysis demonstrated that these lesions were epigenetically distinct not only from meningiomas but also from normal healthy meninges. In conclusion, considering the clinicopathologic aspects of the present lesions and the results of the molecular analysis that failed to suggest their neoplastic nature, they may represent previously unrecognized rare hyperplasia of arachnoid trabecular cells, which may be associated with NF1.
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| http://dx.doi.org/10.1097/PAS.0000000000002056 | DOI Listing |
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