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Meningioma: Molecular Updates from the 2021 WHO Classification of CNS Tumors and Imaging Correlates.AJNR. American Journal of Neuroradiology Jun 2024Meningiomas, the most common primary intracranial neoplasms, account for over a third of primary CNS tumors. While traditionally viewed as benign, meningiomas can be... (Review)
Review
Meningiomas, the most common primary intracranial neoplasms, account for over a third of primary CNS tumors. While traditionally viewed as benign, meningiomas can be associated with considerable morbidity, and specific meningioma subgroups display more aggressive behavior with higher recurrence rates. The risk stratification for recurrence has been primarily associated with the World Health Organization (WHO) histopathological grade and extent of resection. However, a growing body of literature has highlighted the value of molecular characteristics in assessing recurrence risk. While maintaining the previous classification system, the 5th edition of the 2021 WHO CNS tumor (CNS5) book expands upon the molecular information in meningiomas to help guide management. The WHO CNS5 stratifies meningioma into three grades (1-3) based on histopathology criteria and molecular profile. pTERT mutations and CDKN2A/B deletions now signify a grade 3 meningioma with increased recurrence risk. Tumor location also correlates with underlying mutations. Convexity and most spinal meningiomas carry 22q deletion and/or NF2 mutations, while skull base meningiomas have AKT1, TRAF7, SMO, and/or PIK3CA mutations. MRI is the primary imaging modality for diagnosing and treatment planning of meningiomas, while DOTATATE-PET imaging offers supplementary information beyond anatomical imaging. Herein, we review the evolving molecular landscape of meningiomas, emphasizing imaging/genetic biomarkers, and treatment strategies relevant to neuroradiologists.ABBREVIATIONS: AKT1=AKT serine/threonine kinase 1; BAP1=BRCA1-associated protein 1; CDK4/6=Cyclin-dependent kinases 4 and 6; KLF4=Krüppel-like factor 4; NF2=Neurofibromatosis type 2; PIK3CA=Phosphatidylinositol-4,5-Bisphosphate 3-Kinase catalytic subunit alpha; POLR2A=RNA polymerase II subunit A; SMO: Smoothened, frizzled class receptor; SMARCB1=SWItch/sucrose non-fermentable related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1; TERT=Telomerase reverse transcriptase; TRAF7=TNF receptor-associated factor 7.
PubMed: 38844366
DOI: 10.3174/ajnr.A8368 -
Frontiers in Surgery 2024Hemangiopericytoma (HPC) constitutes less than 1% of all primary central nervous system tumors. It is a vascular neoplasm with potential malignancy that, in rare...
UNLABELLED
Hemangiopericytoma (HPC) constitutes less than 1% of all primary central nervous system tumors. It is a vascular neoplasm with potential malignancy that, in rare instances, manifests as a primary lesion within the brain. Typically, it originates from the meninges. Here, we describe an exceptionally uncommon sellar region solitary fibrous tumor/hemangiopericytoma (SFT/HPC) that mimicked a nonfunctional pituitary adenoma.
CASE PRESENTATION
A 54-year-old male was referred to our hospital due to progressive blurred vision in the left eye over the past year. A homogeneous iso-dense extra-axial intrasellar round mass with extension into the suprasellar region, mainly on the left side, along with bony erosion and osteolysis around the sellar region, was observed on a brain computed tomography (CT) scan. Brain magnetic resonance imaging (MRI) revealed a well-defined 251,713 mm mass with iso-signal on T1-weighted images and hypersignal on T2-weighted images, originating from the pituitary gland within the sella turcica. The mass avidly enhanced following Gadolinium injection and adhered to both carotid arteries without vascular compression or invasion. It extended to the suprasellar cistern and compressed the optic chiasm. The diagnosis was nonfunctional pituitary macroadenoma, leading to the decision for Endoscopic Trans-Sphenoidal Surgery (ETSS). A non-sustainable, soft, grayish mass was grossly and totally resected during the operation. Subsequently, there was a significant improvement in visual acuity during the early postoperative period. Histopathologic examination confirmed hemangiopericytoma (WHO grade II).
CONCLUSION
Due to its malignant nature, hemangiopericytoma should be included in the differential diagnosis of a sellar mass, both from a clinical and morphological perspective.
PubMed: 38840972
DOI: 10.3389/fsurg.2024.1359787 -
Surgical Neurology International 2024Chordomas are rare, locally aggressive neoplasms recognized as derivatives of the notochord vestiges. These tumors typically involve the midline axial skeleton, and...
BACKGROUND
Chordomas are rare, locally aggressive neoplasms recognized as derivatives of the notochord vestiges. These tumors typically involve the midline axial skeleton, and intracranial chordomas exhibit proclivity for the spheno-occipital region. However, purely intrasellar occurrences are extremely rare. We report a case of intrasellar chordoma, which masqueraded as a pituitary neuroendocrine tumor.
CASE DESCRIPTION
An 87-year-old female presented with an acutely altered mental state after a few-week course of headaches and decreased left vision. Adrenal insufficiency was evident, and magnetic resonance imaging revealed an intrasellar lesion with heterogeneous contrast enhancement and marked T2 hyperintensity. Central adrenal insufficiency due to an intrasellar lesion was suspected. Cortisol replacement was initiated, and transsphenoidal surgery was performed. Anterosuperior displacement of the normal pituitary gland and the absence of the bony dorsum sellae were notable during the procedure. Histological examination led to a diagnosis of conventional chordoma, and upfront adjuvant stereotactic radiosurgery was executed. She has been free from tumor progression for 12 months.
CONCLUSION
This case and literature review suggested that the pathognomonic features of intrasellar chordoma were heterogeneous contrast enhancement, marked T2 hyperintensity, osteolytic destruction of the dorsum sellae, and anterosuperior displacement of the pituitary gland. Clinical outcomes seemed slightly worse than those of all skull base chordomas, which were the rationale for upfront radiosurgery in our case. Neurosurgeons should include intrasellar chordomas in the differential diagnosis of intrasellar lesions, carefully dissect them from the adjacent critical anatomical structures, and consider upfront radiosurgery to achieve optimal patient outcomes.
PubMed: 38840611
DOI: 10.25259/SNI_116_2024 -
Journal of Drugs in Dermatology : JDD Jun 2024
Topics: Humans; Male; Middle Aged; Carcinoma, Basal Cell; Combined Modality Therapy; Orbital Neoplasms; Patient Care Team; Skin Neoplasms
PubMed: 38834208
DOI: 10.36849/JDD.7970 -
La Revue Du Praticien May 2024
Topics: Humans; Ameloblastoma; Jaw Neoplasms
PubMed: 38833232
DOI: No ID Found -
Hong Kong Medical Journal = Xianggang... Jun 2024
Topics: Humans; Lymphoma, Large B-Cell, Diffuse; Hemangioma, Cavernous; Orbital Neoplasms; Male; Female; Middle Aged; Neoplasms, Multiple Primary; Magnetic Resonance Imaging
PubMed: 38831747
DOI: 10.12809/hkmj2210588 -
International Forum of Allergy &... Jul 2024Sinonasal malignancies (SNMs) frequently present with orbital invasion. Orbital exenteration (OE) can lead to significant morbidity. Induction chemotherapy (IC) is a... (Review)
Review
BACKGROUND
Sinonasal malignancies (SNMs) frequently present with orbital invasion. Orbital exenteration (OE) can lead to significant morbidity. Induction chemotherapy (IC) is a promising treatment alternative that may allow for orbit preserving (OP) treatments without compromising patient survival. This systematic review was conducted to synthesize the published data on SNM patients with orbital invasion who underwent IC, including tumor response, orbital outcomes, and survival.
METHODS
The study protocol was designed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Databases Embase, Cochrane, Medline, and Scopus, from inception to July 17, 2023, were searched.
RESULTS
Nineteen studies were included, encompassing 305 SNM patients with orbital invasion treated with IC. Fourteen studies reported an overall IC response rate (positive response defined as complete or partial tumor volume reduction) of 77.2%. Among included studies, OE rates after IC ranged from 0 to 40%. Three studies reported a high rate of posttreatment functional orbital preservation (89.8-96.0%). Five studies specifically reported that 62.5% (60 out of 96) of patients were downgraded from planned OE to OP treatment following IC. Three studies reported a significant overall survival (OS) improvement in IC responders versus IC nonresponders. Following IC, 5-year OS ranged from 44.2 to 55.5%. Patients with olfactory neuroblastoma demonstrated the highest IC response rate and lowest OE rate (100 and 0%, respectively) versus those with sinonasal undifferentiated carcinomas (68.4 and 0%) or squamous cell carcinomas (76.7 and 16%).
CONCLUSIONS
For select patients, IC may allow for OP in locally advanced SNMs with orbital involvement.
Topics: Humans; Paranasal Sinus Neoplasms; Induction Chemotherapy; Orbital Neoplasms; Neoplasm Invasiveness; Treatment Outcome; Orbit
PubMed: 38829173
DOI: 10.1002/alr.23380 -
The Canadian Veterinary Journal = La... Jun 2024A 6-year-old neutered male mixed-breed dog underwent curative-intent surgical resection of a hard palatal multilobular osteochondrosarcoma and closure of the defect...
A 6-year-old neutered male mixed-breed dog underwent curative-intent surgical resection of a hard palatal multilobular osteochondrosarcoma and closure of the defect using bilateral buccal mucosal flaps. However, failure of the flaps resulted in a massive hard palatal defect that was subsequently repaired using a haired skin angularis oris axial pattern flap. This report describes the clinical outcome using this surgical approach and novel complications encountered. Key clinical message: The haired skin angularis oris axial pattern flap appears to be a suitable and robust option for reconstruction of large palatal defects.
Topics: Animals; Dogs; Male; Dog Diseases; Surgical Flaps; Palate, Hard; Osteosarcoma; Bone Neoplasms; Palatal Neoplasms; Oral Fistula; Postoperative Complications
PubMed: 38827590
DOI: No ID Found -
The American Journal of Case Reports Jun 2024BACKGROUND Orbital metastasis originating from hepatocellular carcinoma (HCC), particularly as an initial manifestation in patients without a known history of HCC, is... (Review)
Review
Orbital Metastasis as the First Manifestation of Hepatocellular Carcinoma, and Its Effective Treatment with Combined Dual Immunotherapy: A Case Report and Review of the Literature.
BACKGROUND Orbital metastasis originating from hepatocellular carcinoma (HCC), particularly as an initial manifestation in patients without a known history of HCC, is rare. Few reports exist on the treatment of patients having HCC with orbital metastasis using targeted therapy or immunotherapy. CASE REPORT We report a case of advanced-stage HCC in a 65-year-old man who first presented with progressive, painless blurred vision and proptosis of the right eye for 2 weeks. The patient had no history of chronic liver disease or cancer. Computed tomography revealed an enhancing hyperdense extraconal mass in the right orbit; a biopsy revealed metastatic HCC. Abdominal CT, which was performed to investigate the primary cancer, revealed a 1.2×1.6-cm arterial-enhancing nodule with venous washout in hepatic segment 5, associated with liver cirrhosis. The patient's serum alpha-fetoprotein level was 70.27 ng/dL. Chest computed tomography revealed lung metastasis. Thus, first-line systemic therapy combining durvalumab and tremelimumab was initiated alongside palliative radiotherapy targeting the right orbit, which began 1 week after the first dose of dual immunotherapy. The patient had significant clinical improvement, reduced proptosis, and serum alpha-fetoprotein levels. CONCLUSIONS Although orbital metastasis is a rare manifestation of HCC, physicians should recognize and consider aggressive investigations for early diagnosis, especially in patients with existing risk factors for HCC. Dual immunotherapy with durvalumab and tremelimumab in combination with radiotherapy can be considered a potential treatment option for managing advanced HCC with orbital metastasis.
Topics: Humans; Male; Carcinoma, Hepatocellular; Liver Neoplasms; Aged; Orbital Neoplasms; Antibodies, Monoclonal, Humanized; Antibodies, Monoclonal; Immunotherapy; Antineoplastic Combined Chemotherapy Protocols; Tomography, X-Ray Computed; Antineoplastic Agents, Immunological
PubMed: 38825807
DOI: 10.12659/AJCR.944002 -
Journal of Translational Medicine May 2024Olfactory neuroblastoma is a rare malignancy of the anterior skull base typically treated with surgery and adjuvant radiation. Although outcomes are fair for low-grade...
BACKGROUND
Olfactory neuroblastoma is a rare malignancy of the anterior skull base typically treated with surgery and adjuvant radiation. Although outcomes are fair for low-grade disease, patients with high-grade, recurrent, or metastatic disease oftentimes respond poorly to standard treatment methods. We hypothesized that an in-depth evaluation of the olfactory neuroblastoma tumor immune microenvironment would identify mechanisms of immune evasion in high-grade olfactory neuroblastoma as well as rational targetable mechanisms for future translational immunotherapeutic approaches.
METHODS
Multispectral immunofluorescence and RNAScope evaluation of the tumor immune microenvironment was performed on forty-seven clinically annotated olfactory neuroblastoma samples. A retrospective chart review was performed and clinical correlations assessed.
RESULTS
A significant T cell infiltration was noted in olfactory neuroblastoma samples with a stromal predilection, presence of myeloid-derived suppressor cells, and sparse natural killer cells. A striking decrease was observed in MHC-I expression in high-grade olfactory neuroblastoma compared to low-grade disease, representing a mechanism of immune evasion in high-grade disease. Mechanistically, the immune effector stromal predilection appears driven by low tumor cell MHC class II (HLA-DR), CXCL9, and CXCL10 expression as those tumors with increased tumor cell expression of each of these mediators correlated with significant increases in T cell infiltration.
CONCLUSION
These data suggest that immunotherapeutic strategies that augment tumor cell expression of MHC class II, CXCL9, and CXCL10 may improve parenchymal trafficking of immune effector cells in olfactory neuroblastoma and augment immunotherapeutic responses.
Topics: Humans; Esthesioneuroblastoma, Olfactory; Chemokine CXCL10; Immunotherapy; Female; Male; Middle Aged; Chemokine CXCL9; Tumor Microenvironment; HLA-DR Antigens; Aged; Nose Neoplasms; Adult; Gene Expression Regulation, Neoplastic
PubMed: 38822345
DOI: 10.1186/s12967-024-05339-9