Endoscopic endonasal approach for resection of sellar leiomyosarcoma metastasis: illustrative case.

BACKGROUND: Leiomyosarcoma (LMS) is a rare neoplasm that arises from tissues of embryonic mesodermal origin. Primary tissues of origin can include smooth muscle cells of the abdominopelvic viscera, blood vessels, or arrector pili muscles. LMS is known to metastasize to the lungs, with few reported cases of spread to the central nervous system. OBSERVATIONS: A 66-year-old male with cutaneous LMS of the left forearm with metastases to the lungs and kidney that had been treated with chemoradiation presented with worsening headaches. Magnetic resonance imaging revealed a sellar lesion. An endocrine workup was unremarkable. Imaging over 6 months revealed rapid interval growth. Positron emission tomography demonstrated moderate uptake. Given the rapid growth, the patient was offered an endoscopic endonasal approach for resection. Pathology confirmed LMS. LESSONS: To the authors' knowledge, this is the first documented case of LMS metastasis to the sella. Pituitary carcinoma or metastases to the sellar region should be in the differential among patients with sellar region tumors with a rapid growth rate, bony erosion, or findings of lesions in the upper cervical lymph nodes or soft tissue. Tumors that show significant interval growth should raise suspicion for nonadenomatous lesions, and surgical intervention should be considered even in the absence of endocrinological dysfunction or cranial neuropathies. https://thejns.org/doi/10.3171/CASE2435.

Management of recurrent giant hemangiopericytoma: illustrative cases.

BACKGROUND: Hemangiopericytoma (HPC) is a rare malignancy accounting for 0.4% of intracranial tumors. HPCs are characterized by local aggressiveness, high rates of recurrence, and a tendency to metastasize to extracranial sites. These features make management of HPCs challenging, often requiring a combination of radical resection and radiation. Given their rarity, optimal treatment algorithms remain undefined. OBSERVATIONS: The authors report a series of four patients who underwent resection of intracranial HPC. Mean age at presentation was 49.3 years. Three patients had reoperation for progression of residual tumor, and one patient was surgically retreated for recurrence. One patient received adjuvant radiotherapy following initial resection, and three patients received adjuvant radiotherapy following resection of recurrent or residual disease. There was one death in the series. Average progression-free survival and overall survival following the index procedure were 32.8 and 82 months, respectively. Progression occurred locally in all patients, with metastatic recurrence in one patient. LESSONS: The current gold-standard treatment for intracranial HPC consists of gross-total resection followed by radiation therapy. This approach allows satisfactory local control; however, given the tendency for these tumors to recur either locally or distally within or outside of the central nervous system, there is a need for salvage therapies to improve long-term outcomes for patients.

Microvascular Decompression for Trigeminal Neuralgia Caused by Vascular Compression on the Trigeminal Sensory Nucleus and Descending Trigeminal Tract.

BACKGROUND: Trigeminal neuralgia (TN) is characterized by paroxysmal episodes of severe shocklike orofacial pain typically resulting from arterial compression on the trigeminal root entry zone. However, neurovascular conflict in more proximal parts of the trigeminal pathway within the pons is extremely rare. METHODS: The authors present a case of microvascular decompression for TN caused by dual arterial compression on the dorsolateral pons, along with a brief literature review. RESULTS: Our patient was a 74-year-old man with episodic left-sided facial stabbing pain. Brain magnetic resonance imaging revealed a dual arterial compression on dorsolateral pons, the known site of the trigeminal sensory nucleus and descending trigeminal tract. Microvascular decompression was performed via a retrosigmoid approach. Complete pain relief and partial improvement of the facial hypesthesia were achieved immediately after surgery and the Barrow Neurological Institute (BNI) pain intensity score improved from V to I, and the BNI hypesthesia score decreased from III to II within a month following surgery. The literature review identified 1 case of TN secondary to an arteriovenous malformation in root entry zone with lateral pontine extension. One month following partial coagulation of the draining vein, the patient was reportedly able to reduce medication dosage by half to achieve an improvement of BNI pain intensity score from V to IIIa. CONCLUSIONS: Neurovascular compression in the trigeminal tract and nucleus is a rare but potential cause of TN. A thorough investigation of the trigeminal pathway should be considered during preoperative evaluation and intraoperative inspection, particularly if no clear offending vessel is identified.

Intradural Pituitary Hemitransposition: Technical Note and Case Series Illustration.

BACKGROUND AND OBJECTIVES: Lesions located in the retrosellar region, interpeduncular cistern, and petroclival region are among the most difficult to access in neurosurgery. Transcranial approaches are useful; however, the large distance between the surgeon and the lesion as well as the presence of major neurovascular structures surrounding the lesion may limit surgical exposure. A midline transsphenoidal route avoids transgression of the neurovascular plane and provides direct access to the interpeduncular cistern. To safely access the interpeduncular fossa, it requires mobilization of the pituitary gland. The pituitary hemitransposition technique permits mobilization of the gland, while preserving its venous drainage and arterial supply to the gland on one of its sides, preserving gland function. The authors aim to describe the intradural pituitary hemitransposition technique and to demonstrate its safe application for resection of skull base tumors in the retrosellar space. METHODS: The authors describe the surgical technique and illustrate its application in 5 cases of different types of skull base tumors, including a video demonstrating all the steps to perform this approach. In addition, the authors discuss the advantages and limitations of this technique compared with other approaches to the retrosellar space. RESULTS: The intradural pituitary hemitransposition technique was used to safely resect a chondrosarcoma, chordoma, craniopharyngioma, teratoma, and meningioma involving the parasellar and retrosellar spaces, while minimizing endocrine morbidity. We had one patient with mild, albeit permanent hyperprolactinemia and hypothyroidism after surgery. No other patients had permanent dysfunction related to surgery. CONCLUSION: The endonasal endoscopic intradural pituitary hemitransposition approach is an effective technique for resection of lesions located within the retrosellar and petroclival regions, allowing adequate exposure while potentially optimizing the preservation of the pituitary function.

Real-time ultrasound guidance in the endoscopic endonasal resection of a retro-odontoid pannus: Technical note and case illustration.

Background and Objectives: Odontoidectomy is a surgical procedure indicated in the setting of various pathologies, with the main goal of decompressing the ventral brain stem and spinal cord as a result of irreducible compression at the craniovertebral junction. The endoscopic endonasal approach has been increasingly used as an alternative to the transoral approach as it provides a straightforward, panoramic, and direct approach to the odontoid process. In addition, intraoperative ultrasound (US) guidance is a technique that can optimize safety and surgical outcomes in this context. It is used as an adjunct to neuronavigation and provides intraoperative confirmation of decompression of craniovertebral junction structures in real time. The authors aim to present the use and safe application of real-time intraoperative US guidance during endonasal endoscopic resection of a retro-odontoid pannus. Methods: A retrospective chart review of a single case was performed and presented herein as a case report and narrated operative video. Results: A minimally invasive US transducer was used intraoperatively to guide the resection of a retro-odontoid pannus and confirm spinal cord decompression in real time. Postoperative examination of the patient revealed immediate neurological improvement. Conclusions: Intraoperative ultrasonography is a well described and useful modality in neurosurgery. However, the use of intraoperative US guidance during endonasal endoscopic approaches to the craniovertebral junction has not been previously described. As demonstrated in this technical note, the authors show that this imaging modality can be added to the ever-evolving armamentarium of neurosurgeons to safely guide the decompression of neural structures within the craniocervical junction with good surgical outcomes.

Identification of potential blood biomarkers associated with suicide in major depressive disorder.

Suicides have increased to over 48,000 deaths yearly in the United States. Major depressive disorder (MDD) is the most common diagnosis among suicides, and identifying those at the highest risk for suicide is a pressing challenge. The objective of this study is to identify changes in gene expression associated with suicide in brain and blood for the development of biomarkers for suicide. Blood and brain were available for 45 subjects (53 blood samples and 69 dorsolateral prefrontal cortex (DLPFC) samples in total). Samples were collected from MDD patients who died by suicide (MDD-S), MDDs who died by other means (MDD-NS) and non-psychiatric controls. We analyzed gene expression using RNA and the NanoString platform. In blood, we identified 14 genes which significantly differentiated MDD-S versus MDD-NS. The top six genes differentially expressed in blood were: PER3, MTPAP, SLC25A26, CD19, SOX9, and GAR1. Additionally, four genes showed significant changes in brain and blood between MDD-S and MDD-NS; SOX9 was decreased and PER3 was increased in MDD-S in both tissues, while CD19 and TERF1 were increased in blood but decreased in DLPFC. To our knowledge, this is the first study to analyze matched blood and brain samples in a well-defined population of MDDs demonstrating significant differences in gene expression associated with completed suicide. Our results strongly suggest that blood gene expression is highly informative to understand molecular changes in suicide. Developing a suicide biomarker signature in blood could help health care professionals to identify subjects at high risk for suicide.

Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.

Deletions in the 16.6 kb mitochondrial genome have been implicated in numerous disorders that often display muscular and/or neurological symptoms due to the high-energy demands of these tissues. We describe a catalogue of 4489 putative mitochondrial DNA (mtDNA) deletions, including their frequency and relative read rate, using a combinatorial approach of mitochondria-targeted PCR, next-generation sequencing, bioinformatics, post-hoc filtering, annotation, and validation steps. Our bioinformatics pipeline uses MapSplice, an RNA-seq splice junction detection algorithm, to detect and quantify mtDNA deletion breakpoints rather than mRNA splices. Analyses of 93 samples from postmortem brain and blood found (i) the 4977 bp 'common deletion' was neither the most frequent deletion nor the most abundant; (ii) brain contained significantly more deletions than blood; (iii) many high frequency deletions were previously reported in MitoBreak, suggesting they are present at low levels in metabolically active tissues and are not exclusive to individuals with diagnosed mitochondrial pathologies; (iv) many individual deletions (and cumulative metrics) had significant and positive correlations with age and (v) the highest deletion burdens were observed in major depressive disorder brain, at levels greater than Kearns-Sayre Syndrome muscle. Collectively, these data suggest the Splice-Break pipeline can detect and quantify mtDNA deletions at a high level of resolution.