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Open access

Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case

Bianca M Marin, Nathan K Leclair, Erica Shen, Avery Buehler, Upendra P Hegde, Qian Wu, Kevin Becker, Lei Li, Seth Brown, Leo J Wolansky, Hilary Onyiuke, David Choi, and Ketan R Bulsara

BACKGROUND

Esthesioneuroblastoma (ENB) is a rare neoplasm of the sinonasal tract. Currently, the optimal treatment includes maximal resection combined with radiotherapy and/or chemotherapy. Although ENBs often recur and have an aggressive clinical course, spinal metastases are extremely rare and the underlying molecular mechanisms are poorly understood.

OBSERVATIONS

Here, the authors describe a 50-year-old male with an aggressive ENB, initially treated with resection and chemotherapy/radiation, who developed multiple thoracic and lumbar spinal metastases. The authors performed targeted exome sequencing on both the resected primary tumor and biopsied spinal metastases, which revealed 12 total variants of unknown clinical significance in genes associated with the PI3K/AKT/mTOR pathway, chromatin remodeling, DNA repair, and cell proliferation. Six of these variants were restricted to the metastatic lesion and included missense mutations with predicted functional effects in GRM3, DNMT3B, PLCG2, and SPEN.

LESSONS

This report discusses the potential impact of these variants on tumor progression and metastasis, as well as the implications for identifying potential new biomarkers and therapies.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 23 (Dec 2023)

Open access

Spinal metastases of pineal region glioblastoma with primitive neuroectodermal features highlighting the importance of molecular diagnoses: illustrative case

Aaryan Shah, Neelan J Marianayagam, Aroosa Zamarud, David J Park, Amit R Persad, Scott G Soltys, Steven D Chang, and Anand Veeravagu

BACKGROUND

Glioblastoma (GBM) is the most common primary brain tumor with poor patient prognosis. Spinal leptomeningeal metastasis has been rarely reported, with long intervals between the initial discovery of the primary tumor in the brain and eventual spine metastasis.

OBSERVATIONS

Here, the authors present the case of a 51-year-old male presenting with 7 days of severe headache, nausea, and vomiting. Magnetic resonance imaging of the brain and spine demonstrated a contrast-enhancing mass in the pineal region, along with spinal metastases to T8, T12, and L5. Initial frozen-section diagnosis led to the treatment strategy for medulloblastoma, but further molecular analysis revealed characteristics of isocitrate dehydrogenase–wild type, grade 4 GBM.

LESSONS

Glioblastoma has the potential to show metastatic spread at the time of diagnosis. Spinal imaging should be considered in patients with clinical suspicion of leptomeningeal spread. Furthermore, molecular analysis should be confirmed following pathological diagnosis to fine-tune treatment strategies.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 20 (Nov 2023)

Open access

Awake resection of recurrent astroblastoma with intraoperative 5-ALA–induced fluorescence: illustrative case

Anthony Price, Sean O’Leary, Kseniia Malkova, Preston D’Souza, Christian Ogasawara, Michelle M Felicella, and Patrick J Karas

BACKGROUND

Astroblastoma is a rare neoplasm characterized as a circumscribed glial neoplasm most often arising in the frontoparietal cerebral hemispheres in older children.

OBSERVATIONS

We report an intriguing case of an astroblastoma recurrence 21 years after gross-total resection and radiation. A 32-year-old right-handed female presented to the emergency department for a generalized tonic-clonic seizure. She had a history of bipolar disorder, intractable migraines, and prior seizures linked to an astroblastoma previously resected three times. Magnetic resonance imaging on the current visit showed growth of the recurrent lesion to a 3.8-cm maximal diameter. Left-sided awake craniotomy was performed to remove the tumor while using speech mapping and 5-aminolevulinic acid (5-ALA). Targeted next-generation sequencing of the tumor revealed in-frame MN1::BEND2 fusion transcripts.

LESSONS

We found that 5-ALA can be used in astroblastoma patients to assist in gross-total resection, which is important for long-term survival. Our astroblastoma case demonstrated classic astroblastoma morphology, with typical perivascular astroblastic rosettes, and was brightly fluorescent after 5-ALA administration.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 18 (Oct 2023)

Open access

Clinical, imaging, and molecular features of radiation-induced glioblastomas developing more than 20 years after radiation therapy for intracranial germinomatous germ cell tumor: illustrative cases

Yoshihiro Tsukamoto, Manabu Natsumeda, Haruhiko Takahashi, Asuka Ueno, Kiichi Sakai, Kazuki Shida, Hiroki Seto, Taiki Saito, Satoshi Shibuma, Yoko Nakayama, Yuki Tanaka, Toshimichi Nakano, Atsushi Ohta, Katsuya Maruyama, Masayasu Okada, Takeyoshi Eda, Yasuhiro Seki, Yuichirou Yoneoka, Hiroshi Shimizu, Kouichirou Okamoto, Akiyoshi Kakita, and Makoto Oishi

BACKGROUND

Germinomatous germ cell tumor is highly sensitive to chemoradiotherapy; patients are expected to survive for decades. Many radiation-induced malignant gliomas (RIMGs) occur >10 years after radiotherapy. Standard therapy for RIMGs has not been established because of the lesion’s rarity, the patient’s shorter survival period, and the risk of radiation necrosis by repeat radiation.

OBSERVATIONS

Two patients, a 32-year-old man and a 50-year-old man, developed glioblastomas more than 20 years after radiation monotherapy for germinoma with or without mature teratoma. The first patient showed a tumor in the left frontotemporal region with disseminated lesions and died 2 months after partial resection of the tumor without responding to the chemotherapy with temozolomide and bevacizumab. Methylation classifier analysis classified the pathology as closest to diffuse pediatric-type high-grade glioma, Rtk1 subtype. The second patient showed a tumor mass in the brainstem and left cerebellar peduncle, which worsened progressively during chemotherapy with temozolomide and bevacizumab. The tumor transiently responded to stereotactic radiotherapy with the CyberKnife. However, the patient died of RIMG recurrence-related aspiration pneumonia 11 months after the biopsy. Methylation classifier analysis classified the pathology as closest to infratentorial pilocytic astrocytoma.

LESSONS

Chemoradiotherapy may improve the survival of patients with RIMGs. Furthermore, molecular features may influence the clinical, locoregional, and pathological features of RIMG.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 16 (Oct 2023)

Open access

Diffusely invasive supratentorial rosette-forming glioneuronal tumor: illustrative case

Brittany Owusu-Adjei, Constance J Mietus, Jeewoo Chelsea Lim, William Lambert, Rrita Daci, David Cachia, Thomas W Smith, and Peter S Amenta

BACKGROUND

Rosette-forming glioneuronal tumors (RGNTs) are rare tumors composed of mixed glial and neurocytic components. Most lesions are confined to the posterior fossa, especially in the region of the fourth ventricle, in young adults. In few instances, diffuse involvement of the supratentorial region is identified, thereby creating significant challenges in diagnosis, surgical intervention, and prognostication.

OBSERVATIONS

The authors present a 23-year-old female with chronic headaches, papilledema, and hydrocephalus who underwent radiographic evaluation revealing obstructive hydrocephalus and diffuse supratentorial enhancing and nonenhancing cystic and nodular lesions. The patient underwent a right frontal craniotomy and septostomy. An exophytic nonenhancing right frontal horn lesion was resected, and an enhancing third-ventricular lesion was biopsied. Final pathology of both of the lesions sampled was consistent with RGNT. Next-generation sequencing demonstrated tumor alterations in the FGFR-1 and PIK3CA genes. Targeted therapy with the FGFR inhibitor erdafitinib demonstrated a partial remission.

LESSONS

Diffuse supratentorial spread of RGNT is an extremely rare presentation of an already uncommon pathology. In some cases, gross-total resection may not be feasible. Goals of surgery include acquiring tissue for diagnosis, maximizing safe resection, and treating any associated hydrocephalus. FGFR inhibitors may be of benefit in cases of disease progression.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 16 (Oct 2023)

Open access

Intraoperative and postoperative complications for repeat high-grade glioma resections with concurrent chemotherapy: patient series

Kenneth Ong, Celine Hounjet, and Serge Makarenko

BACKGROUND

High-grade gliomas are aggressive primary brain tumors, the most common of which is glioblastoma multiforme. Despite advances in treatment, the prognosis for these patients remains poor. The most common chemotherapeutic agents used in the treatment of this pathology include temozolomide (TMZ), procarbazine, lomustine, and vincristine. It is unclear whether chemotherapy should be held during resection for high-grade gliomas, because the perioperative risk profile is not clearly defined.

OBSERVATIONS

The authors report a case series of 18 surgeries to investigate the effects of concurrent TMZ and lomustine chemotherapy on surgical complications in patients undergoing repeat resection for recurrent high-grade gliomas. The authors found no postoperative infections, self-limiting postoperative complications, or excessive intraoperative blood loss and found one intraoperative complication.

LESSONS

There may not be a need to pause TMZ and lomustine chemotherapy during recurrent resections for high-grade gliomas, and continuing these medications throughout the perioperative period may be appropriate. This case series suggests that patients receiving TMZ and lomustine chemotherapy who need a repeat resection for recurrent high-grade gliomas should consider remaining on their chemotherapy regimen because it has been shown in the literature to improve recurrence-free survival time.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 16 (Oct 2023)

Open access

Novel combination of GammaTile cesium-131 brachytherapy with 5-aminolevulinic acid fluorescence–guided resection in the re-irradiation of pediatric recurrent high-grade glioma: illustrative case

Julian A. Gordon, Melisa Pasli, Cathleen M. Cook, Rainor Connor, Philip J. Boyer, Andrew W. Ju, K. Stuart Lee, Kathleen E. Knudson, and M. Sean Peach

BACKGROUND

Herein, the authors describe the successful utilization of 5-aminolevulinic acid (5-ALA) and the first case of GammaTile cesium-131 therapy in a pediatric patient with recurrent high-grade glioma. 5-ALA was utilized to optimize gross-total resection prior to GammaTile implantation. After conversion to an equivalent dose in 2-Gy fractions (EQD2), a composite was made of the GammaTile dose with the initial external beam radiotherapy. Two hypothetical plans consisting of a standard hypofractionated strategy for glioma reirradiation and a CyberKnife plan using GammaTile’s planning target volume were developed and likewise underwent EQD2 conversion and composite plan generation with the initial radiotherapy.

OBSERVATIONS

5-ALA was useful in achieving gross-total resection with no acute toxicity from the surgery or GammaTile irradiation. When compared with the hypothetical composite doses, GammaTile’s composite, axium point dose (D0.03cc) to the brainstem was 32.9 Gy less than the hypofractionated and the CyberKnife composite plans at 38.7 Gy and 40.2 Gy, respectively. The right hippocampus demonstrated a substantially reduced composite plan dose with GammaTile with a D0.03cc of 62.4 Gy versus 71.7 and 80.7 Gy for the hypofractionated and CyberKnife composite plans, respectively.

LESSONS

Utilization of 5-ALA and GammaTile therapy yielded clinically superior tumor debulking and effective radiotherapy dose localization with sparing of organs at risk, respectively.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 16 (Oct 2023)

Open access

Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case

Caren M Stuebe, Amanda V Jenson, Tanner W Lines, Ashley M Holloman, Matthew D Cykowski, Steve H Fung, Ronald E Fisher, Kenneth L McClain, and David S Baskin

BACKGROUND

Erdheim-Chester disease (ECD) is a rare non–Langerhans cell histiocytosis characterized histologically by foamy histiocytes and Touton giant cells in a background of fibrosis. Bone pain with long bone osteosclerosis is highly specific for ECD. Central nervous system involvement is rare, although dural, hypothalamic, cerebellar, brainstem, and sellar region involvement has been described.

OBSERVATIONS

A 59-year-old man with a history of ureteral obstruction, medically managed petit mal seizures, and a left temporal lesion followed with serial magnetic resonance imaging (MRI) presented with worsening seizure control. Repeat MRI identified bilateral amygdala region lesions. Gradual growth of the left temporal lesion over 1 year with increasing seizure frequency prompted resection. A non–Langerhans cell histiocytosis with a BRAF V600E mutation was identified on pathology. Imaging findings demonstrated retroperitoneal fibrosis and long bone osteosclerosis with increased fluorodeoxyglucose uptake that, together with the neuropathologic findings, were diagnostic of ECD.

LESSONS

This case of biopsy-proven ECD is unique in that the singular symptom was seizures well controlled with medical management in the presence of similarly located bilateral anterior mesial temporal lobe lesions. Although ECD is rare intracranially, its variable imaging presentation, including the potential to mimic seizure-associated medial temporal lobe tumors, emphasizes the need for a wide differential diagnosis.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 16 (Oct 2023)

Open access

Symptomatic radionecrosis after postoperative but not preoperative stereotactic radiosurgery in a single patient: illustrative case

Bryce J Laurin, Michael Straza, George Noid, Jennifer M Connelly, Wade M Mueller, Joseph Bovi, and Max O Krucoff

BACKGROUND

Standard of care for brain metastases involves stereotactic radiosurgery (SRS). For cases that also require surgery because of lesion size, edema, or neurological symptoms, whether to provide pre- or postoperative SRS has become a prevalent debate.

OBSERVATIONS

Herein, the unique case of a patient with brain metastases of the same pathology and similar size in two different brain locations at two different times is described. The patient underwent surgery with preoperative SRS for the first lesion and surgery with postoperative SRS for the second lesion. Although both treatments resulted in successful local control, the location that received postoperative SRS developed symptomatic and rapidly progressive radiation necrosis (RN) requiring a third craniotomy.

LESSONS

Large randomized controlled trials are ongoing to compare pre- versus postoperative SRS for the treatment of symptomatic brain metastases (e.g., study NRG-BN012). Recent interest in preoperative SRS has emerged from its theoretical potential to decrease rates of postoperative RN and leptomeningeal disease. This valuable case in which both therapies were applied in a single patient with a single pathology and similar lesions provides evidence supportive of preoperative SRS.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 16 (Oct 2023)

Open access

Surgical management of metastatic Hürthle cell carcinoma to the skull base, cortex, and spine: illustrative case

N. U. Farrukh Hameed, Meagan M Hoppe, Ahmed Habib, Jeffrey Head, Regan Shanahan, Bradley A Gross, Sandra Narayanan, Georgios Zenonos, and Pascal Zinn

BACKGROUND

Hürthle cell carcinoma (HCC) is an unusual and aggressive variant of the follicular type of differentiated thyroid cancer (DTC), accounting for less than 3% of DTCs but posing the highest risk of metastasis. Brain metastases are uncommonly reported in the literature but pose a poor prognosis. The low rate of brain metastases from HCC coupled with ambiguous treatment protocols for the extracranial disease complicate successful disease management and definitive treatment strategy. The authors present the case of a patient with HCC metastasis to the skull base, cortex, and spine with recent tibial metastasis.

OBSERVATIONS

Despite the presence of metastasis to the cortex, skull base, and spine, the patient responded very well to radiation therapy, sellar mass resection, and cervical spine decompression and fixation and has made a remarkable recovery.

LESSONS

The authors’ multidisciplinary approach to the patient’s care, including a diverse team of specialists from oncology, neurosurgery, orthopedic surgery, radiology, endocrinology, and collaboration with clinical trial researchers, was fundamental to her successful outcome, demonstrating the utility of intersecting specialties in successful outcomes in neuro-oncological patient care.

In Journal of Neurosurgery: Case Lessons Volume 6 (2023): Issue 15 (Oct 2023)