Erdheim-Chester Disease With Eyelid and Orbital Involvement: A Review of Treatment Modalities at One Institution From 2014 to 2022.

PURPOSE: To review all cases of Erdheim-Chester disease (ECD) with orbital involvement treated at Bascom Palmer Eye Institute in Miami, Florida from 2014 to 2022 and compare presentations, treatment modalities, and outcomes. METHODS: A retrospective chart review of all patients diagnosed with ECD who presented to Bascom Palmer Eye Institute from 2014 to 2022 was performed. Data collected included demographics, pretreatment history and ophthalmic examination, pathology report, treatment, subsequent examination, and relevant laboratory results. Histopathology, treatments, and outcomes were reviewed and compared between patients. RESULTS: Four cases were included. Primary treatments included vemurafenib (n = 2), cobimetinib (n = 1), and prednisone (n = 1). All patients demonstrated improvement of ophthalmic symptoms. Vemurafenib was the only medical treatment that was tolerated well and resulted in significant improvement in proptosis despite some reported dry eye; all other medications were discontinued due to intolerable side effects. CONCLUSIONS: BRAF inhibitors such as vemurafenib have been used as novel therapy in the treatment of ECD. Vemurafenib demonstrated its utility in reducing proptosis in ECD patients at one ophthalmic institution. Vemurafenib may be a favorable treatment option for BRAF-positive ECD patients presenting with orbital disease.

Redefining Perineural Invasion in Head and Neck Cutaneous Squamous Cell Carcinoma.

OBJECTIVE: Perineural invasion (PNI) negatively affects disease-specific survival in patients with head and neck cutaneous squamous cell carcinoma (HNcSCC). We aim to analyze the prognostic implications of PNI-related features. STUDY DESIGN: Retrospective cohort study. SETTING: Academic tertiary care hospital. METHODS: Retrospective chart review was performed on 104 patients diagnosed with HNcSCC between January 2011 and October 2019 who underwent resection, parotidectomy, and neck dissection with more than 1 year of follow-up. PNI was classified as incidental (identified on histopathology alone) or clinical (present on radiography and/or physical exam). Primary outcome measures were overall survival and disease-free survival (DFS). Kaplan-Meier analysis, logistic regression, and Cox regression were performed. RESULTS: The overall 5-year DFS was 57.9%. Sixty-one patients had PNI. On histopathology, 28 lesions showed complete nerve encirclement, 10 involved >5 nerves, and 12 involved named nerves. Patients with facial weakness (P = .026) and positive margins (P = .0029) had a higher likelihood of histopathologic PNI, and positive margins retained significance on multivariable analysis (P = .0079). Worse DFS was seen in patients with PNI (P = .004), advanced tumor stage (P = .049), positive margins (P = .014), and >5 nerves involved (P = .0061). Furthermore, histopathologic PNI was a predictor of DFS (hazard ratio [HR], 3.07; 95% CI, 0.33-1.38; P = .0061) overall and in the clinical PNI cohort (HR, 3.43; 95% CI, 1.65-7.10; P = .00091). CONCLUSION: DFS was significantly worse in patients with PNI, facial nerve weakness, advanced T stage, positive margins, and multiple nerve involvement. Further characterization of PNI features may help improve prognostic predictions and identify patients who may benefit from more aggressive treatment.

Ga-68 DOTATATE PET/CT in the Evaluation of Paragangliomas and Other Indeterminate Lesions in the Head and Neck.

Background and Purpose: Paragangliomas (PGLs) are rare neuroendocrine tumors with imaging features that can overlap with other entities. This study hypothesizes that given overexpression of somatostatin receptor (SSTR) 2, PGLs can be differentiated on Ga-68 DOTATATE positron emission tomography/computed tomography (PET/CT) from other benign or malignant lesions. Materials and Methods: Ninety-six patients with known tumors of the head and neck who underwent Ga-68 DOTATATE PET/CT from May 2017 to December 2021 were retrospectively reviewed from a single institution. Of these, 43 patients had histopathological confirmation and 66 positive lesions were discovered on PET/CT. For each lesion, the SUV max, the SUV lesion to liver ratio, and the SUV lesion to spleen ratio were analyzed. Results: PGLs (n = 37) showed the most intense uptake, and the mean of SUVmax was 69.3 (range 3.7-225.9). Metastatic PGL and metastasis from other neuroendocrine tumors (n = 13) demonstrated intermediate uptake, the mean of SUVmax was 15.16 (range 2.3-40.3). Meningiomas (n = 3) had intermediate uptake, and the mean of SUVmax was 12.37 (range 2.5-19.4). One patient with esthesioneuroblastoma had 5 lesions in the head and neck, and the mean of SUVmax was 18.9 (range 6.9-49.4). Schwannomas (n = 4) had very low uptake, and the mean of SUVmax was 1.75 (range 1.1-2.2). Other rare cases with low uptake included 1 each of osteosarcoma, acinic cell carcinoma, ectopic thyroid tissue, and plasmacytoma, and the mean of SUVmax was 4.75 (range 2.3-6.1). Conclusions: Ga-68 DOTATATE PET/CT can be a useful adjunct in differentiating tumors in the head and neck. PGLs demonstrate the highest uptake. Meningioma, esthesioneuroblastoma, and neuroendocrine tumor metastasis have intermediate uptake. Schwannomas and other rare tumors exhibit low uptake.

Incidence of high grade gliomas presenting as radiographically non-enhancing lesions: experience in 111 surgically treated non-enhancing gliomas with tissue diagnosis.

PURPOSE: Although non-enhancing lesions suspicious for glioma are usually assumed to be low grade glioma (LGG), some high grade glioma (HGG) do not enhance, which may lead to a delay in biopsy and/or resection, diagnosis, and treatment initiation. Thus, there is a clear need for a large-sample study that quantifies the rate of malignant, non-enhancing gliomas. METHODS: We retrospectively reviewed our series of 561 consecutive surgically treated gliomas with tissue diagnosis, 111 of which were non-enhancing, to determine the prevalence of high-grade histology in radiographically presumed LGG. Relative expression of tumor markers were also reported for non-enhancing lesions to investigate genetic correlates. RESULTS: We identified 561 surgically treated gliomas with tissue diagnosis from August 2012 to July 2018 and found that 111 patients (19.8%) demonstrated non-enhancing lesions suspicious for glioma on preoperative MRI. Thirty-one (27.9%) of the non-enhancing lesions were classified as HGGs (WHO Grade III or IV). Non-enhancing lesions were four times more likely to be HGG in patients older than 60 years than patients younger than 35 years (41.2% vs. 11.4%, Pearson Chi2 p < 0.001). Binomial logistic regression showed a significant inverse effect of age on the presence of IDH mutation in non-enhancing HGGs (p = 0.007). CONCLUSION: A clinically significant proportion (27.9%) of non-enhancing lesions were found to be HGG on final pathologic diagnosis. Thus, in patients with good functional and health status, especially those older than 60 years, we recommend obtaining tissue diagnosis of all lesions suspected to be glioma, even those that are non-enhancing, to guide diagnosis as well as early initiation of chemotherapy and radiation therapy.

Imaging Characteristics of a Hypervascular Pituitary Spindle Cell Oncocytoma on Magnetic Resonance Imaging and Digital Subtraction Angiography.

BACKGROUND: Spindle cell oncocytomas (SCOs) are rare neuroendocrine tumors of the posterior pituitary that are often misdiagnosed as nonfunctional pituitary tumors. Fewer than 50 cases of SCOs have been described in the literature, and many of these reports have documented the tumors to be hypervascular on imaging or histology. CASE DESCRIPTION: We present the first cerebral angiography imaging findings of an SCO before primary resection. The discovery of a prominent tumor blush, enlarged meningohypophyseal feeders bilaterally, and prominent tumor draining veins aided in preoperative planning and subsequent successful endoscopic transsphenoidal surgical resection. CONCLUSIONS: Despite being a rare entity, SCOs should be included in the differential diagnosis when working up a hypervascular sellar tumor. Flow voids may be present on initial magnetic resonance imaging evaluation. Subsequent digital subtraction angiography can be used to further investigate abnormal vasculature and aid in surgical planning.

Wooden Foreign Body in the Skull Base: How Did We Miss It?

BACKGROUND: Timely detection of intraorbital and skull base wooden foreign bodies is crucial. Wooden foreign bodies are difficult to detect on imaging. The radiologist may fail to identify wooden foreign bodies on two thirds of initial scans and can miss them in almost one third of total cases. CASE DESCRIPTION: A 66-year-old woman sustained a penetrating injury through the left upper eyelid with a small tree branch. The branch was immediately removed in the field, and she was provided with prompt medical care at a local hospital. Initial computed tomography (CT) scan diagnosis was "posttraumatic sinusitis," and this was treated empirically with vancomycin and piperacillin/tazobactam. On the eighth day after injury, she developed progressive swelling and pain of her eyelid with left trigeminal/supraorbital numbness and complete left ophthalmoplegia. A new CT scan showed an open "track" from the region of the left upper orbit/superior rectus to the contralateral sphenoid sinus, which raised suspicion for a retained foreign body. Further imaging confirmed the suspicion. Endoscopic sinus surgery was performed with extraction of the wooden object and evacuation of the left orbital infection. CONCLUSIONS: This case indicates that intraorbital and skull base wooden foreign bodies are elusive, demanding a high index of suspicion from both clinicians and radiologists to identify retained material in the setting of ocular or sinus trauma. For better identification of wooden foreign bodies, bone windows on CT should have a width of -1000 Hounsfield units with a soft tissue window level of -500 Hounsfield units.

Spinal imaging findings in spontaneous intracranial hypotension.

OBJECTIVE: spontaneous intracranial hypotension is a syndrome of postural headaches that arises as a result of CSF leakage and without previous lumbar puncture. The purpose of this study was to review and describe the spinal imaging findings of this entity. MATERIALS AND METHODS: The spinal MRI and CT myelographic imaging findings of 13 patients with spontaneous intracranial hypotension were retrospectively reviewed. Spinal images were evaluated for spinal fluid collections, dural enhancement, dilated epidural veins, a thickened or enlarged ventral lateral epidural venous plexus, high T2 signal intensity between the spinous processes of C1 and C2 (C1-C2 sign), structural abnormalities, canal attenuation or cord compression, and active contrast extravasation. When available, brain MRI findings were reviewed. Surgical correlation was made in the cases of four patients. RESULTS: The patients were found to have spinal fluid collections (11 of 13 patients), dural enhancement (eight of 10 patients undergoing contrast administration), dilated epidural veins (10 of 13 patients), an enlarged epidural venous plexus (nine of 13 patients), C1-C2 sign (seven of 13 patients), structural abnormalities (four of 13 patients), canal attenuation or cord compression (five of 13 patients), and active contrast extravasation (four of 13 patients). CONCLUSION: Spinal imaging is likely to show one or more findings in patients with spontaneous intracranial hypotension and may be of particular value to patients with equivocal clinical or brain imaging findings and patients who need surgery. Encountering these findings on spinal images may suggest the diagnosis of spontaneous intracranial hypotension and therefore can influence patient treatment.

Imaging for spine tumors and new applications.

OBJECTIVES: Discuss intramedullary, intradural/extramedullary, and extradural spinal tumors including imaging characteristics with emphasis on MR and advances in treatment. METHODS: Literature and institutional review. RESULTS: Spinal tumors: intramedullary, intradural/extramedullary, and extradural, comprise a wide range of histological tumors with an even wider range of clinical symptoms and prognostic features. They are relatively rare and if left untreated, can cause serious neurological deficits and disability. An accurate diagnosis is therefore crucial in determining prognosis and directing therapy. Magnetic resonance imaging (MRI) has revolutionized the diagnosis of intraspinal tumors, allowing for early detection and improved anatomical localization. Magnetic resonance has also become an integral part in staging of both primary and metastatic neoplasms of the spine for guiding therapy and is an excellent modality for follow-up. Advances in MRI (perfusion and molecular imaging) may help refine and describe these neoplasms for accurate treatment and prognosis in the future. Surveillance protocols and role of magnetic resonance are not well established. CONCLUSIONS: Magnetic resonance plays an integral role in evaluation of spinal tumors with increasing role in staging and treatment.