ABSTRACT
Allergic fungal rhinosinusitis (AFRS) is a subtype of chronic noninvasive sinusitis accounting for 7.8% (0.2%-26.7%) of all chronic rhinosinusitis cases. A definitive diagnosis is usually made after sinus surgery. Successful treatment requires a combination of surgical and medical management. Although orbital involvement is relatively common, reports on optic neuropathy and acute vision loss are limited. Herein, we present a series of 3 patients with AFRS who presented with acute visual loss as the chief complaint. All 3 patients were otherwise healthy adults in their early 20s with extensive nasal polyps on endoscopic nasal examination and bone erosion in the bilateral orbits and lateral wall of the sphenoid sinus on the affected side on imaging. One of the 3 patients had bilateral cranial nerve IV defects in addition to cranial nerve III defects. All patients underwent endoscopic sinus surgery with orbital decompression and were followed up postoperatively by both otolaryngology and ophthalmology services with endoscopic and radiologic evaluation. Unfortunately, no meaningful improvement in vision was observed in any patient despite successful nerve decompression. Prompt diagnosis and early medical and surgical intervention are warranted to prevent complications in patients with AFRS with orbital extension.
ABSTRACT
Central nervous system (CNS) metastasis is the most common brain tumor type in adults. Compared to their primary tumors, these metastases undergo a variety of genetic changes to be able to survive and thrive in the complex tissue microenvironment of the brain. In clinical settings, the majority of traditional chemotherapies have shown limited efficacy against CNS metastases. However, the discovery of potential driver mutations, and the development of drugs specifically targeting affected signaling pathways, could change the treatment landscape of CNS metastasis. Genetic studies of brain tumors have so far focused mainly on common cancers in western populations. In this study, we performed Next Generation Sequencing (NGS) on 50 pairs of primary tumors, including but not limited to colorectal, breast, renal and thyroid tumors, along with their brain metastatic tumor tissue counterparts, from three different local tertiary centers in Saudi Arabia. We identified potentially clinically relevant mutations in brain metastases that were not detected in corresponding primary tumors, including mutations in the PI3K, CDK, and MAPK pathways. These data highlight the differences between primary cancers and brain metastases and the importance of acquiring and analyzing brain metastatic samples for further clinical management.
