Case report on an extremely rare type of ependymoma arising from the thigh.

INTRODUCTION: Ependymomas are neuroepithelial neoplasms of the central nervous system that arise from the precursor cells lining the ventricular system and the central canal of the spinal cord. Herein, we report a case of an extremely rare type of ependymoma arising from the thigh. Then, a literature review was performed. PRESENTATION OF CASE: An 87-year-old female Japanese patient presented with a chief complaint of a mass on the medial aspect of her right thigh. Pathology revealed a grade 2 extra-neural ependymoma. PET-CT and brain MRI showed no neoplastic lesions in the central nervous system, and the tumor was localized only in the right thigh. The tumor was growing and was treated as a low-grade tumor with extensive resection and postoperative adjuvant radiotherapy. The patient has been alive for 3 years, without postoperative recurrence or complications. DISCUSSION: This case presents a rare extra-neural ependymoma of central nervous system origin arising in the thigh. The pathogenesis is unknown, but a search for neoplastic lesions in the cerebrospinal cord is warranted. Extra-neural ependymomas should be treated as low-grade tumors because they are more prone to recurrence and metastasis than ordinary ependymomas. CONCLUSION: We experienced an extremely rare extra-neural ependymoma arising in the thigh. A search for tumors in the central nervous system region of the cerebrospinal cord, previous literature, and clinical, imaging, and pathological findings should be consulted to determine a treatment strategy.

Treatment of Extraneural Metastases of Myxopapillary Ependymomas With Dose-Dense Temozolomide and Lapatinib.

Myxopapillary ependymomas (MPEs) are rare tumors of the central nervous system, and outcomes are generally worse with recurrent disease. These tumors can rarely metastasize outside the neuraxis. We present a case of a 35-year-old female with a history of MPEs who developed extraneural metastases 11 years after her initial gross total resection. Sites of metastases included multiple bilateral intrapulmonary and pleural-based masses with pleural effusion and a pelvic mass. The patient was treated with dose-dense TMZ and lapatinib and had a mixed radiographic response after 12 cycles of treatment. This is the first known case of extraneural metastases of MPEs to demonstrate a radiographic response to dose-dense TMZ and lapatinib. This case presentation discusses the need to establish optimal treatment of extraneural ependymal metastases, duration of treatment, and strategy for the management of recurrent diseases.

Cervical Lymph Node Metastasis From Medulloblastoma in a Young Adult: Case Report and Literature Review.

Medulloblastoma, an embryonal tumor located in the posterior fossa of the brain, originates from the neuro-epidermal layer of the cerebellum. It is the most prevalent malignant tumor in children, while it is rare in adults and predominantly affects males. Multimodal therapeutic interventions, such as surgery, radiotherapy, and chemotherapy, have substantially enhanced the prognosis of this condition. Extraneural metastases are infrequent. We present a case of medulloblastoma relapse with nodal metastasis in a 28-year-old adult.

Metastatic glioblastoma to the lungs: a case report and literature review.

Glioblastoma is the most common malignant primary brain tumor. Despite its infiltrative nature, extra-cranial glioblastoma metastases are rare. We present a case of a 63-year-old woman with metastatic glioblastoma in the lungs. Sarcomatous histology, a reported risk factor for disseminated disease, was found. Genomic alterations of TP53 mutation, TERT mutation, PTEN mutation, and +7/-10 were also uncovered. Early evidence suggests these molecular aberrations are common in metastatic glioblastoma. Treatment with third-line lenvatinib resulted in a mixed response. This case contributes to the growing body of evidence for the role of genomic alterations in predictive risk in metastatic glioblastoma. There remains an unmet need for treatment of metastatic glioblastoma.

Glioblastoma is the most common malignant primary brain tumor. Glioblastoma can spread into healthy tissue, but metastases beyond the brain are rare. We present a case of a 63-year-old woman with metastatic glioblastoma in the lungs. We identified risk factors associated with spread beyond the brain, including factors related to tissue structure and specific molecular alterations. Treatment with third-line lenvatinib resulted in a mixed response. This case adds to the limited existing data for the use of molecular alterations to serve as risk factors for metastatic glioblastoma. Treatment options are needed for this devastating disease.

Metastatic extraneural glioblastoma diagnosed with molecular testing.

Glioblastoma, the most common malignant brain tumor in adults, is associated with a median overall survival duration of less than 2 years. Extraneural metastases occur in less than 1% of all patients with glioblastoma. The mechanism of extraneural metastasis is unclear. We present a case of extensive extraneural, extraosseous, epidural, and soft-tissue metastasis of glioblastoma. The diagnosis of metastatic glioblastoma was made only after next-generation sequencing (NGS) of the metastatic paraspinal lesions was completed. The CDK4, pTERT, PTEN, and TP53 molecular alterations seen in the initial intracranial glioblastoma were found in the paraspinal tumor, along with the addition of MYC, which is implicated in angiogenesis and epidermal-to-mesenchymal transition. Immunohistochemical stains showed that neoplastic cells were negative for GFAP. In conclusion, this case raises awareness about the role of NGS in the diagnosis of extraneural glioblastoma. This diagnosis was not possible with histology alone and only became evident after molecular profiling of the metastatic lesions and its comparison to the original tumor.

A systematic review of extraneural meningioma metastasis: timing, evolution and outlook.

PURPOSE: Extraneural meningioma metastasis is a rare occurrence and may pose a clinical challenge due to its unclear prognosis. In this systematic review, we analyze patient demographics, clinical characteristics, management strategies, and outcomes. METHODS: PubMed, EMBASE, Scopus, Cochrane, and Web of Science databases were searched from inception to February 23, 2024 for cases of metastatic meningioma according to PRISMA guidelines. Descriptive statistics, Mann-Whitney U test, Fisher's exact tests, Kaplan-Meier curves, and log-rank tests were used for selected analyses. RESULTS: A total of 288 patients (52% male) were included with an average age of 49 years at meningioma diagnosis. Tumors were distributed across WHO grade 1 (38%), 2 (36%), and 3 (26%). Most patients experienced intracranial recurrence (79%) and mean time to first metastasis was approximately 8 years. No change in WHO grade between primary and metastasis was observed for most cases (65%). Treatment of the initial metastasis was most often with surgery (43%), chemotherapy (20%), or no treatment (14%). Half of the patients were alive (50%) with an average follow-up of 3 years following metastasis. Overall median survival was 36 months for the entire cohort. This differed significantly between WHO grade 1 versus 2/3 meningioma primaries (168 vs. 15 months, p < 0.005). CONCLUSION: Metastatic meningioma appears to be associated with more positive prognosis than other brain tumor types with extra-neural metastasis or metastasis in general. This is particularly true for cases arising from a WHO grade 1 meningioma.

Pediatric H3K27M­mutant diffuse midline glioma with vertebral metastasis: A case report and literature review.

H3K27M-mutant diffuse midline glioma (DMG) is a type of high-grade glial tumor, which occurs in the midline structure and develops mostly in children. Extraneural metastases (ENM) are exceedingly rare in patients with H3K27M-mutant DMG. A 9-year-old male patient presented with a headache, nausea and vomiting. Following magnetic resonance imaging and immunohistochemical molecular testing examination, the patient was diagnosed with H3K27M-mutant DMG and received chemoradiotherapy plus five cycles of chemotherapy with temozolomide intermittently as an adjuvant therapy. The treatment resulted in a slight reduction of the tumor volume. However, 2 months later, the patient was admitted to hospital with complaints of drooping of the mouth, and waist and back pain. Magnetic resonance imaging and positron-emission tomography-computed tomography revealed an unusual presentation with multiple vertebral metastases and craniospinal leptomeningeal dissemination. Following discussion between the members of a multidisciplinary medical team, the patient underwent one cycle of chemotherapy with cyclophosphamide, vincristine and cisplatin. However, the condition did not improve and the patient died 4 weeks after the diagnosis of ENM. The mechanisms underlying the development of these rare metastases remain unclear. The present case report provides insights into the clinical characteristics and potential metastasis mechanisms of this aggressive disease and may help to elucidate new pathways for the management of ENM.

Recurrent intracranial anaplastic ependymoma with late-onset giant scalp metastasis.

Key Clinical Message: Ependymomas are primary brain tumors that predominantly affect individuals between 0 and 4 years of age. Although ependymomas have a propensity for recurrence and the potential to spread within the central nervous system through cerebrospinal fluid (resulting in drop metastases), reports of extra-neural metastatic localizations are exceedingly rare in the existing literature. This case report presents a unique and rare instance of recurrent intracranial anaplastic ependymoma with a late-onset giant scalp metastasis. Abstract: A 55-year-old male patient with a medical history of partial resection of an atypical supratentorial left temporal ependymoma presented with a recurrent anaplastic ependymoma, which had been managed with surgery and radiotherapy. After a 4-year follow-up, the patient developed a subcutaneous mass in the left parietal region of the scalp. A multidisciplinary team of neurosurgeons and plastic surgeons performed a surgical procedure, which included en bloc removal of the scalp lesion, resection of 1 cm of unaffected skin, and craniotomy to address an osteolytic area in the parietal skull bone. Skin autografts were used for reconstruction. Histological examination confirmed metastasis of anaplastic ependymoma in the scalp. After a delay in starting chemotherapy due to concerns related to the COVID-19 pandemic, the patient eventually initiated chemotherapy, leading to disease stability at a short-term follow-up. Scalp metastases from ependymoma are rarely reported in the literature. Management of such cases necessitates aggressive surgical resection, followed by adjuvant chemotherapy and radiotherapy. A multidisciplinary approach is recommended to ensure effective and targeted therapy, with a focus on preserving aesthetics, particularly in pediatric cases.

Medulloblastoma with Subcutaneous Spread: A Rare Entity.

Medulloblastoma is the most common malignant pediatric brain tumor. Histological subclassification and adjuvant therapy have improved prognostication and outcome. Extraneural metastasis remains a poor prognostic factor and subcutaneous seeding is rarely encountered and reported in the pediatric population. We report a 3-year-old child who rapidly presented with subcutaneous seeding a month following gross total resection of his tumor.

A rare case of a sporadic retroperitoneal hemangioblastoma.

Hemangioblastoma is a rare, benign, and morphologically distinctive tumor. In most cases, the tumor involves the central nervous system. Extraneural occurrences are rare, with just a few reports of hemangioblastoma situated outside of neural tissue, such as the retroperitoneum. We report a case of sporadic retroperitoneal hemangioblastoma in an 87-year-old male patient, diagnosed as an incidental finding in a CT scan performed because of kidney stone disease. The CT scan showed a mass in the retroperitoneum posterior to the inferior vena cava. The patient reported no remarkable symptoms. We describe our path to diagnosis, the possible differential diagnosis for retroperitoneal masses, and the histopathologic features of the tumor. There are <250 reported extra neuraxial hemangioblastomas and just 14 reported cases situated outside of the neural tissue. Our case is the eighth case report of a hemangioblastoma arising from the soft tissue of the retroperitoneum.

Extra-Neural Metastases of Glioblastoma: A Case Series.

Glioblastoma (GBM) is the most common brain tumor and has a median survival of less than two years. The current standard of care consists of surgery followed by concomitant radio and chemotherapy with temozolomide. Although it is an aggressive tumor, distant metastases are extremely rare. The dissemination mechanisms are not fully understood and currently there is no standard of care for its treatment. In this study, the authors present a comprehensive analysis of all the existing cases of extra-neural metastases of GBM in a tertiary care center over the last five years, along with the procedures carried out in each case.

Extra Neural Metastasis Of Glioblastoma Multiforme: A Literature Review.

Extra-neural metastases of glioblastoma multiforme are uncommon with unidentified metastatic mechanism. There is no consensus over optimum treatment regimen. The current narrative review was planned to illuminate the presence criteria, sites of metastatic spread, incidence, mechanism, risk factors and management.

Open Carpal Tunnel Release With a Z-plasty Rearrangement for Median Nerve Mononeuropathy Secondary to Traumatic Scar Contracture.

We present the case of a 56-year-old woman who developed carpal tunnel syndrome and palmar scar contracture secondary to a left-hand palmar laceration in a pedestrian versus motor vehicle accident. The patient underwent carpal tunnel release and a Z-plasty rearrangement to restore normal thumb movement. The patient reported significant improvement in thumb mobility, resolution of median neuropathy symptoms, and no pain along the scar at her three-month follow-up. Our case illustrates the effectiveness of a Z-plasty in relieving tension along scars and potential management for traction-type extraneural neuropathy arising from scar contracture.

Application of Drug Testing Platforms in Circulating Tumor Cells and Validation of a Patient-Derived Xenograft Mouse Model in Patient with Primary Intracranial Ependymomas with Extraneural Metastases.

Primary intracranial ependymoma is a challenging tumor to treat despite the availability of multidisciplinary therapeutic modalities, including surgical resection, radiotherapy, and adjuvant chemotherapy. After the completion of initial treatment, when resistant tumor cells recur, salvage therapy needs to be carried out with a more precise strategy. Circulating tumor cells (CTCs) have specifically been detected and validated for patients with primary or recurrent diffused glioma. The CTC drug screening platform can be used to perform a mini-invasive liquid biopsy for potential drug selection. The validation of potential drugs in a patient-derived xenograft (PDX) mouse model based on the same patient can serve as a preclinical testing platform. Here, we present the application of a drug testing model in a six-year-old girl with primary ependymoma on the posterior fossa, type A (EPN-PFA). She suffered from tumor recurrence with intracranial and spinal seeding at 2 years after her first operation and extraneural metastases in the pleura, lung, mediastinum, and distant femoral bone at 4 years after initial treatment. The CTC screening platform results showed that everolimus and entrectinib could be used to decrease CTC viability. The therapeutic efficacy of these two therapeutic agents has also been validated in a PDX mouse model from the same patient, and the results showed that these two therapeutic agents significantly decreased tumor growth. After precise drug screening and the combination of focal radiation on the femoral bone with everolimus chemotherapy, the whole-body bone scan showed significant shrinkage of the metastatic tumor on the right femoral bone. This novel approach can combine liquid biopsy, CTC drug testing platforms, and PDX model validation to achieve precision medicine in rare and challenging tumors with extraneural metastases.

Recurrent Extraneural Metastatic Medulloblastoma in an Adult Presenting With a Superscan and Treated With Radium-223.

A 32-year-old man with medulloblastoma was initially treated with subtotal resection and craniospinal irradiation. He developed recurrent metastatic disease three years later with extensive bone-only metastases. Biopsy of the bone lesions confirmed metastatic medulloblastoma and restaging investigations demonstrated a superscan with no evidence of recurrence in the craniospinal axis. Extraneural metastatic medulloblastoma is rare, and the presentation with diffuse bone-only metastases with a superscan on imaging is unique. The patient had diffusely painful bone metastases requiring multiple hospitalizations for poor pain control. He declined chemotherapy and was treated with radium-223, an alpha particle emitting radionuclide therapy typically used in metastatic castrate-resistant prostate cancer. The patient received three out of a planned six cycles of radium-223 before it was discontinued due to myelosuppression requiring multiple blood transfusions, and restaging demonstrated local recurrence in the posterior fossa. This is the first report to our knowledge describing the use of radium-223 in a patient with extraneural bone-only metastatic medulloblastoma. Further research into the effect of radium-223 in patients with diffuse bone-only metastases from non-prostate cancer primary tumors is warranted.

A rare case of H3K27-altered diffuse midline glioma with multiple osseous and spinal metastases at the time of diagnosis.

BACKGROUND: H3K27-altered diffuse midline gliomas are uncommon central nervous system tumors with extremely poor prognoses. CASE PRESENTATION: We report the case of a 24-year-old man patient with multiple, inter alia osseous metastases who presented with back pain, hemi-hypoesthesia, and hemi-hyperhidrosis. The patient underwent combined radio-chemotherapy and demonstrated temporary improvement before deteriorating. CONCLUSIONS: H3K27-altered diffuse midline glioma presents an infrequent but crucial differential diagnosis and should be considered in cases with rapid neurological deterioration and multiple intracranial and intramedullary tumor lesions in children and young adults. Combined radio-chemotherapy delayed the neurological deterioration, but unfortunately, progression occurred three months after the diagnosis.

Delineation of molecular characteristics in pediatric PFA ependymoma involving rare osseous and pulmonary metastases: A case report and literature review.

Ependymoma is the third most common pediatric primary brain tumor, with its most aggressive subtype being posterior fossa group A (PFA). Extraneural metastasis of pediatric PFA ependymoma is rare. Herein, we present a case of a 9-year-old girl with PFA ependymoma characterized by a lack of trimethylation of histone H3 at lysine 27 and elevated chromosome X open reading frame 67 expression. Despite multiple surgeries and radiotherapies, the patient had a rapid recurrence and developed osseous and pulmonary metastases, which may be attributed to the homozygous deletion of cyclin-dependent kinase (CDK) inhibitor 2A/B and CDK12 mutation. Importantly, the CDK12 mutation observed in the patient may be indicative of the need for further work-up to consider chemotherapy rather than administering poly (adenosine diphosphate-ribose) polymerase inhibitors. Taken together, this is the first report of pediatric PFA ependymoma with extraneural metastases, wherein we clarified the diagnostic procedures of this newly identified PFA ependymoma and provided new cues to study the invasiveness of this disease and treatment selection for such patients.

Case report: Fulminant extraneural metastasis of glioblastoma through venous sinus.

Background: Extraneural metastasis (ENM) of glioblastoma are rare. However, as patient overall survival improves, the incidence of ENM has gradually increased. Although several risk factors have been proposed, venous sinus invasion was regarded as a very exceptional route for ENM. Case description: We report a 60-year-old man with glioblastoma in the temporal lobe, invading the transverse and sigmoid venous sinus. After gross total tumor resection, the patient received the standard chemoradiation therapy. Systemic evaluation for persistent shoulder and back pain revealed widespread metastasis to lymph nodes and multiple bones 9 months after surgery. Despite spine radiation therapy, the patient became paraplegic and died 1 year after surgery. Conclusions: Venous sinus invasion should be kept in mind by physicians, as a risk factor for glioblastoma ENM. Systemic evaluation of these patients with extracranial symptoms should be performed without hesitation.

Extra-Neural Metastases From Primary Intracranial Ependymomas: A Systematic Review.

Background: Primary intracranial ependymomas (IE) are rare brain tumors rarely metastasizing outside the central nervous system. We systematically reviewed the literature on extra-neural metastases from primary IEs. Methods: PubMed, Scopus, Web-of-Science, and Cochrane were searched following the PRISMA guidelines to include studies of extra-neural metastases from primary IEs. Clinical features, management strategies, and survival were analyzed. Results: We collected 48 patients from 43 studies. Median age was 13 years (range, 2-65). Primary IEs were frequently located in the parietal (22.9%) and frontal (16.7%) lobes, and mostly treated with resection (95.8%) and/or radiotherapy (62.5%). Most IEs were of grade-III (79.1%), and few of grade-I (6.3%) or grade-II (14.6%). 45 patients experienced intracranial recurrences, mostly treated with resection (86.7%), radiotherapy (60%), and/or chemotherapy (24.4%). Median time-interval from primary IEs was 28 months (range, 0-140). Most extra-neural metastases were diagnosed at imaging (37.5%) or autopsy (35.4%). Extra-neural metastases were multifocal in 38 patients (79.1%), mostly involving cervical or hilar lymph-nodes (66.7%), lung/pleura (47.9%), and/or scalp (29.1%). Surgical resection (31.3%), chemotherapy (31.3%) and locoregional radiotherapy (18.8%) were the most common treatments for extra-neural metastases, but 28 (58.3%) patients were not treated. At last follow-up, 37 patients died with median overall-survivals from primary IEs of 36 months (range, 1-239), and from extra-neural metastases of 3 months (range, 0.1-36). Overall-survival was significantly longer in patients with grade-I and II IEs (P=0.040). Conclusion: Extra-neural metastases from primary IEs are rare, but mostly occur at later disease stages. Multidisciplinary management strategies should be intended mostly for palliation.