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Neuroendocrinology 2022Pituitary neuroendocrine tumors (PitNETs) are the most common intracranial neoplasms. Although generally benign, they can show a clinically aggressive course, with local... (Review)
Review
Pituitary neuroendocrine tumors (PitNETs) are the most common intracranial neoplasms. Although generally benign, they can show a clinically aggressive course, with local invasion, recurrences, and resistance to medical treatment. No universally accepted biomarkers of aggressiveness are available yet, and predicting clinical behavior of PitNETs remains a challenge. In rare cases, the presence of germline mutations in specific genes predisposes to PitNET formation, as part of syndromic diseases or familial isolated pituitary adenomas, and associates to more aggressive, invasive, and drug-resistant tumors. The vast majority of cases is represented by sporadic PitNETs. Somatic mutations in the α subunit of the stimulatory G protein gene (gsp) and in the ubiquitin-specific protease 8 (USP8) gene have been recognized as pathogenetic factors in sporadic GH- and ACTH-secreting PitNETs, respectively, without an association with a worse clinical phenotype. Other molecular factors have been found to significantly affect PitNET drug responsiveness and invasive behavior. These molecules are cytoskeleton and/or scaffold proteins whose alterations prevent proper functioning of the somatostatin and dopamine receptors, targets of medical therapy, or promote the ability of tumor cells to invade surrounding tissues. The aim of the present review is to provide an overview of the genetic and molecular alterations that can contribute to determine PitNET clinical behavior. Understanding subcellular mechanisms underlying pituitary tumorigenesis and PitNET clinical phenotype will hopefully lead to identification of new potential therapeutic targets and new markers predicting the behavior and the response to therapeutic treatments of PitNETs.
Topics: Humans; Neuroendocrine Tumors; Pituitary Neoplasms
PubMed: 33524974
DOI: 10.1159/000514862 -
The Neuroradiology Journal Feb 2015Intraventricular schwannoma in either infra or supratentorial location is an extremely rare tumor with less than 20 cases described in the literature to date. There is...
Intraventricular schwannoma in either infra or supratentorial location is an extremely rare tumor with less than 20 cases described in the literature to date. There is no consensus regarding the origin of this tumor. This paper describes an excised supratentorial schwannoma located on the wall of the left lateral ventricle. The relevant literature is reviewed. A 34-year-old man with no significant medical history presented with a recent episode of right focal motor seizures and weakness of the right lower extremity. Magnetic resonance imaging of the brain demonstrated a heterogeneous enhancing mass in the body of left lateral ventricle mass lesion with vasogenic edema in the adjacent brain parenchyma. The patient underwent a left frontoparietal parasagittal craniotomy with neuronavigational guidance to avoid damage to the primary motor cortex. The tumor originated from the ependymal layer and extended to the body of lateral ventricle. Complete surgical excision of the tumor was achieved. Intraventricular schwannomas are rare tumors amenable to complete surgical excision, having a good prognosis without the need for adjuvant therapy. The recognition of this benign and potentially curable neoplasm and its differentiation from other less favorable tumors is of obvious importance.
Topics: Adult; Humans; Lateral Ventricles; Magnetic Resonance Imaging; Male; Neurilemmoma; Supratentorial Neoplasms
PubMed: 25924172
DOI: 10.15274/NRJ-2014-10104 -
AJNR. American Journal of Neuroradiology Apr 2022Pediatric supratentorial tumors such as embryonal tumors, high-grade gliomas, and ependymomas are difficult to distinguish by histopathology and imaging because of...
BACKGROUND AND PURPOSE
Pediatric supratentorial tumors such as embryonal tumors, high-grade gliomas, and ependymomas are difficult to distinguish by histopathology and imaging because of overlapping features. We applied machine learning to uncover MR imaging-based radiomics phenotypes that can differentiate these tumor types.
MATERIALS AND METHODS
Our retrospective cohort of 231 patients from 7 participating institutions had 50 embryonal tumors, 127 high-grade gliomas, and 54 ependymomas. For each tumor volume, we extracted 900 Image Biomarker Standardization Initiative-based PyRadiomics features from T2-weighted and gadolinium-enhanced T1-weighted images. A reduced feature set was obtained by sparse regression analysis and was used as input for 6 candidate classifier models. Training and test sets were randomly allocated from the total cohort in a 75:25 ratio.
RESULTS
The final classifier model for embryonal tumor-versus-high-grade gliomas identified 23 features with an area under the curve of 0.98; the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 0.85, 0.91, 0.79, 0.94, and 0.89, respectively. The classifier for embryonal tumor-versus-ependymomas identified 4 features with an area under the curve of 0.82; the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 0.93, 0.69, 0.76, 0.90, and 0.81, respectively. The classifier for high-grade gliomas-versus-ependymomas identified 35 features with an area under the curve of 0.96; the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 0.82, 0.94, 0.82, 0.94, and 0.91, respectively.
CONCLUSIONS
In this multi-institutional study, we identified distinct radiomic phenotypes that distinguish pediatric supratentorial tumors, high-grade gliomas, and ependymomas with high accuracy. Incorporation of this technique in diagnostic algorithms can improve diagnosis, risk stratification, and treatment planning.
Topics: Brain Neoplasms; Child; Ependymoma; Glioma; Humans; Magnetic Resonance Imaging; Neoplasms, Germ Cell and Embryonal; Neuroectodermal Tumors, Primitive; Retrospective Studies; Supratentorial Neoplasms
PubMed: 35361575
DOI: 10.3174/ajnr.A7481 -
World Neurosurgery Jun 2020The operative microscope, a commonly used tool in neurosurgery, is critical in many supratentorial tumor cases. However, use of operating microscope for supratentorial...
BACKGROUND
The operative microscope, a commonly used tool in neurosurgery, is critical in many supratentorial tumor cases. However, use of operating microscope for supratentorial tumor varies by surgeon.
OBJECTIVES
To assess complication rates, readmissions, and costs associated with operative microscope use in supratentorial resections.
METHODS
A retrospective analysis was conducted using a national administrative database to identify patients with glioma or brain metastases who underwent supratentorial resection between 2007 and 2016. Univariate and multivariate analyses were used to assess 30-day complications, readmissions, and costs between patients who underwent resection with and without use of microscope.
RESULTS
The cohort included 12,058 glioma patients and 5433 metastasis patients. Rates of microscope use varied by state from 19.0% to 68.6%. Microscope use was associated with $5228.90 in additional costs of index hospitalization among glioma patients (P <0.001), and $2824.00 among metastasis patients (P <0.001). Rates of intraoperative cerebral edema were lower among the microscope cohort than among the nonmicroscope cohort (P <0.027). Microscope use was associated with a slight reduction in 30-day rates of neurological complications (14.7% vs. 16.7%, P = 0.048), specifically in nonspecific cerebrovascular complications. There were no differences in rates of other complications, readmissions, or 30-day postoperative costs.
CONCLUSIONS
Use of operative microscope for supratentorial resections varies by state and is associated with higher cost of surgery. Microscope use may be associated with lower rates of intraoperative cerebral edema and some cerebrovascular complications, but is not associated with significant differences in other complications, readmissions, or 30-day costs.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Cerebrovascular Disorders; Cohort Studies; Costs and Cost Analysis; Female; Glioma; Humans; Male; Microscopy; Microsurgery; Middle Aged; Neoplasm Metastasis; Neurosurgical Procedures; Patient Readmission; Postoperative Complications; Retrospective Studies; Supratentorial Neoplasms; Young Adult
PubMed: 32171932
DOI: 10.1016/j.wneu.2020.03.021 -
Cirugia Y Cirujanos 2017Pilocytic astrocytoma is a rare tumour, usually occurring in paediatric ages, and mainly located in the posterior fossa. It can cause hydrocephalus and intracranial... (Review)
Review
BACKGROUND
Pilocytic astrocytoma is a rare tumour, usually occurring in paediatric ages, and mainly located in the posterior fossa. It can cause hydrocephalus and intracranial hypertension and, less frequently, seizures, or a focal neurological deficit. The main imaging study by magnetic resonance imaging, which shows a tumour with solid and cystic components without peri-lesional swelling. The election treatment is surgical, and the patient is considered cured if a total resection is accomplished.
CLINICAL CASE
The case is presented of 22-year-old female patient with a supratentorial pilocytic astrocytoma and epilepsy. Histopathology reported a low grade glial proliferation, with an extensive fibrillar matrix, small cells without atypia, extensive calcifications and piloid areas consisting of bipolar fusiform cells, and some Rosenthal fibres. There were also spongiotic areas consisting of multipolar cells and associated microcysts. The final report was a pilocytic astrocytoma.
CONCLUSIONS
Pilocytic astrocytoma is more frequent in paediatric patients and in the posterior fossa. The case presented is of a young female adult with supratentorial location, making it a special case. The surgery achieved a total resection. The long-term prognosis is good, but it is necessary to perform a follow-up, particularly in adult patients because of a higher risk of recurrence.
Topics: Anticonvulsants; Astrocytoma; Cholecystitis, Acute; Craniotomy; Female; Humans; Levetiracetam; Magnetic Resonance Imaging; Neuroimaging; Piracetam; Remission Induction; Seizures; Supratentorial Neoplasms; Young Adult
PubMed: 27417707
DOI: 10.1016/j.circir.2016.05.009 -
World Neurosurgery Sep 2018This study aimed to summarize the diagnosis, therapy, and prognosis of pituitary metastasis. (Review)
Review
OBJECTIVE
This study aimed to summarize the diagnosis, therapy, and prognosis of pituitary metastasis.
METHODS
Ten patients from the Department of Neurosurgery of the Peking Union Medical College Hospital from April 1997 to August 2014 were retrospectively analyzed.
RESULTS
The participants included 7 males (70%) and 3 females (30%), with an average age of 60.4 years. The most common initial clinical feature was visual disability (50%). The postoperative pathology reports indicated 1 case (10%) of metastatic large-cell pulmonary carcinoma, 2 cases (20%) of metastatic small cell pulmonary carcinoma, 2 cases (20%) of clear cell renal carcinoma metastasis, and 5 cases (50%) of metastasis of adenocarcinomas from different areas. All the patients underwent a thorough follow-up, and the average survival was 144 days.
CONCLUSIONS
Pituitary metastasis is a rare disease. Its diagnosis depends on the clinical manifestations and radiologic results. The primary therapeutic method is surgery and subsequent radiotherapy and chemotherapy; however, the prognosis of this disease is poor.
Topics: Adult; Aged; Female; Follow-Up Studies; Humans; Male; Middle Aged; Pituitary Neoplasms; Prognosis; Retrospective Studies
PubMed: 29883826
DOI: 10.1016/j.wneu.2018.05.205 -
The Journal of Clinical Endocrinology... Jun 2023Aggressive pituitary tumors (APTs) and pituitary carcinomas (PCs) are heterogeneous with regard to clinical presentation, proliferative markers, clinical course, and...
Aggressive pituitary tumors (APTs) and pituitary carcinomas (PCs) are heterogeneous with regard to clinical presentation, proliferative markers, clinical course, and response to therapy. Half of them show an aggressive course only many years after the first apparently benign presentation. APTs and PCs share several properties, but a Ki67 index greater than or equal to 10% and extensive p53 expression are more prevalent in PCs. Mutations in TP53 and ATRX are the most common genetic alterations; their detection might be of value for early identification of aggressiveness. Treatment requires a multimodal approach including surgery, radiotherapy, and drugs. Temozolomide is the recommended first-line chemotherapy, with response rates of about 40%. Immune checkpoint inhibitors have emerged as second-line treatment in PCs, with currently no evidence for a superior effect of dual therapy compared to monotherapy with PD-1 blockers. Bevacizumab has resulted in partial response (PR) in few patients; tyrosine kinase inhibitors and everolimus have generally not been useful. The effect of peptide receptor radionuclide therapy is limited as well. Management of APT/PC is challenging and should be discussed within an expert team with consideration of clinical and pathological findings, age, and general condition of the patient. Considering that APT/PCs are rare, new therapies should preferably be evaluated in shared standardized protocols. Prognostic and predictive markers to guide treatment decisions are needed and are the scope of ongoing research.
Topics: Humans; Pituitary Neoplasms; Temozolomide; Bevacizumab
PubMed: 36856733
DOI: 10.1210/clinem/dgad098 -
Hormone Research in Paediatrics 2014Pituitary adenomas, although rare in the paediatric age range and mostly benign, represent very challenging disorders for diagnosis and management. The recent... (Review)
Review
Pituitary adenomas, although rare in the paediatric age range and mostly benign, represent very challenging disorders for diagnosis and management. The recent identification of genetic alterations in young individuals with pituitary adenomas has broadened the scope of molecular investigations and contributed to the understanding of mechanisms of tumorigenesis. Recent identification of causative mutations of genes such as GNAS, PRKAR1A, MEN1 and AIP has introduced the concept of molecular screening of young apparently healthy family members. Population-based studies have reported a significantly higher number of affected subjects and genetic variations than expected. Radiological techniques have advanced, yet many microadenomas remain undetectable on scanning. However, experience with transsphenoidal and endoscopic pituitary surgery has led to higher rates of cure. Prolactinomas, corticotroph and somatotroph adenomas remain the most prevalent, with each diagnosis presenting its own challenges. As paediatric pituitary adenomas occur very infrequently within the paediatric age range, paediatric endocrine units cannot provide expert management in isolation. Consequently, close co-operation with adult endocrinology colleagues with experience of pituitary disease is strongly recommended.
Topics: Adolescent; Child; Child, Preschool; Endoscopy; Female; Humans; Infant; Male; Mutation; Neoplasm Proteins; Pituitary Neoplasms; Prevalence
PubMed: 24525527
DOI: 10.1159/000357673 -
Endonasal endoscopic transsphenoidal excision of tuberculum sellae meningiomas: a systematic review.Journal of Neurosurgical Sciences Dec 2016The endonasal endoscopic approach (EEA) for the resection of tuberculum sellae meningiomas (TSMs) has, more recently, been advocated as an alternative approach to deal... (Review)
Review
INTRODUCTION
The endonasal endoscopic approach (EEA) for the resection of tuberculum sellae meningiomas (TSMs) has, more recently, been advocated as an alternative approach to deal with this challenging tumor. The aim of this study was to conduct a systematic review of publications of TSMs excised through the transsphenoidal route in the past 10 years and review data on the extent of excision, visual outcomes and complication rates.
EVIDENCE ACQUISITION
We performed a thorough systematic review of the medical literature following the PRISMA guidelines. A medical librarian retrieved a list of 3443 articles published from 2006-2015 from the MEDLINE, EMBASE and Cochrane Central databases. Two of the authors independently screened for titles and abstracts and excluded 3340 of them. We reviewed the full text of the remaining 103 articles and included in our analysis 12 that met the following inclusion criteria: 1) 5 or more cases reported; 2) the extent of resection, visual outcomes and complication rates that were specifically documented for TSMs excised through the transsphenoidal route.
EVIDENCE SYNTHESIS
Twelve studies that included 150 patients were analyzed. The mean age was 55 years. The mean tumor volume, reported in 2 studies, was 6.6 cc and mean maximum diameter, reported in 11 studies, was 25 mm. The gross total resection rate was 77.2%. Vision improved in 79.5% of cases and deteriorated in 7.3%. CSF leak postoperatively occurred in 15.3% of patients. In the 11 studies that reported hormonal outcomes, there was a 9.4% transient hyponatremia or diabetes insipidus and 2.2% of patients developed a new permanent endocrine dysfunction. A symptomatic vascular injury was reported in 2.6% of patients. There was one mortality (0.6%).
CONCLUSIONS
The endonasal endoscopic transsphenoidal excision of TSMs is a feasible, safe and effective surgical option with a low morbidity and mortality. The use of this approach has evolved in the last 10 years and in some centers has replaced the transcranial route for selected cases. Given the limited availability and heterogeneity of comparative observational studies, a direct comparison with transcranial approaches was not performed for the purpose of this review analysis. Likewise, from an epidemiological and statistical perspective a meta-analysis was deemed inappropriate.
Topics: Endoscopy; Humans; Meningeal Neoplasms; Meningioma; Neurosurgical Procedures; Skull Base Neoplasms; Supratentorial Neoplasms
PubMed: 27280544
DOI: No ID Found -
Brain Tumor Pathology Jan 2022Although ependymomas (EPNs) have similar histopathology, they are heterogeneous tumors with diverse immunophenotypes, genetics, epigenetics, and different clinical...
Although ependymomas (EPNs) have similar histopathology, they are heterogeneous tumors with diverse immunophenotypes, genetics, epigenetics, and different clinical behavior according to anatomical locations. We reclassified 141 primary EPNs from a single institute with immunohistochemistry (IHC) and next-generation sequencing (NGS). Supratentorial (ST), posterior fossa (PF), and spinal (SP) EPNs comprised 12%, 41%, and 47% of our cohort, respectively. Fusion genes were found only in ST-EPNs except for one SP-EPN with ZFTA-YAP1 fusion, NF2 gene alterations were found in SP-EPNs, but no driver gene was present in PF-EPNs. Surrogate IHC markers revealed high concordance rates between L1CAM and ZFTA-fusion and H3K27me3 loss or EZHIP overexpression was used for PFA-EPNs. The 7% cut-off of Ki-67 was sufficient to classify EPNs into two-tiered grades at all anatomical locations. Multivariate analysis also delineated that a Ki-67 index was the only independent prognostic factor in both overall and progression-free survivals. The gain of chromosome 1q and CDKN2A/2B deletion were associated with poor outcomes, such as multiple recurrences or extracranial metastases. In this study, we propose a cost-effective schematic diagnostic flow of EPNs by the anatomical location, three biomarkers (L1CAM, H3K27me3, and EZHIP), and a cut-off of a 7% Ki-67 labeling index.
Topics: Ependymoma; Humans; Infratentorial Neoplasms; Ki-67 Antigen; Neural Cell Adhesion Molecule L1; Oncogene Proteins; Prognosis; Spinal Neoplasms; Supratentorial Neoplasms
PubMed: 34812989
DOI: 10.1007/s10014-021-00417-y