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International Medical Case Reports... 2024Giant Clinically Non-Functioning Pituitary Adenomas (GCNFPA) are pituitary neuroendocrine tumours spanning beyond 4 cm in diameter without clinically apparent secretory...
BACKGROUND
Giant Clinically Non-Functioning Pituitary Adenomas (GCNFPA) are pituitary neuroendocrine tumours spanning beyond 4 cm in diameter without clinically apparent secretory function. They elicit insidious growth pertaining to its asymptomatic nature and present at large sizes from mass effect. Certain clinical features such as headache and visual disturbances are common presentations of GCNFPAs owing to their size, while others such as seizures are extremely rare.
CASE REPORT
A 63-year-old woman presented with back-to-back generalized tonic clonic seizures to the A&E and was treated with Levetiracetam. Following initial normal blood investigations, a visual field analysis revealed a bitemporal upper quadrantanopia and further evaluation using MRI found a giant pituitary lesion with suprasellar extension through the third ventricle into the lateral ventricles with significant mass effect. She underwent neuro-navigation guided endonasal transsphenoidal subtotal resection 2 weeks later. The histological diagnosis of null cell adenoma with a Ki67 of 3% was made. At 3 months of follow-up, she is symptom free and monitored with serial MRIs.
CONCLUSION
Seizures are an uncommon presentation of GCNFPAs limited to a few case reports. This illustrates the importance of careful evaluation of patient presentations to correctly diagnose pituitary neoplasms and prioritizing symptom relief in choosing surgical approaches.
PubMed: 38799383
DOI: 10.2147/IMCRJ.S465564 -
Medicina (Kaunas, Lithuania) Apr 2024: A magnetic resonance imaging (MRI) scan is part of the diagnostic protocol in pituitary adenoma patients. The goal of the present study is to present and analyse the...
: A magnetic resonance imaging (MRI) scan is part of the diagnostic protocol in pituitary adenoma patients. The goal of the present study is to present and analyse the MRI appearances of the sphenoid sinus (SS) in patients with non-functioning pituitary adenoma (NFPA). : This is a retrospective case-control study conducted between January 2015 and December 2023 in a tertiary referral hospital. Forty NFPA patients were included in the study group, while the control group consisted of 30 age- and gender-matched cases. : The sellar type of SS pneumatization was the most frequently encountered pattern among both groups. The presence of the lateral recess of the SS, mucosal cysts, and sphenoethmoidal cells was similar in both patient groups. The proportion of patients with SS mucosal thickness greater than 3 mm was 42.5% in NFPA group and 3% in the control group, and this difference was statistically significant ( < 0.001). The space between the two optic nerves was significantly larger in the NFPA group as compared to the control group ( < 0.001). : Our study was able to establish a statistically significant association between the presence of NFPA and both the thickening of the SS mucosa and increased space between optic nerves.
Topics: Humans; Sphenoid Sinus; Male; Female; Pituitary Neoplasms; Retrospective Studies; Magnetic Resonance Imaging; Middle Aged; Case-Control Studies; Adult; Adenoma; Aged
PubMed: 38792891
DOI: 10.3390/medicina60050708 -
The Immune Microenvironment Landscape of Pituitary NeuroEndocrine Tumors, a Transcriptomic Approach.Genes Apr 2024Pituitary neuroendocrine tumors (PitNET) are known to be variably infiltrated by different immune cells. Nonetheless, their role in pituitary oncogenesis has only begun...
Pituitary neuroendocrine tumors (PitNET) are known to be variably infiltrated by different immune cells. Nonetheless, their role in pituitary oncogenesis has only begun to be unveiled. The immune microenvironment could determine the biological and clinical behavior of a neoplasm and may have prognostic implications. To evaluate the expression of immune-related genes and to correlate such expression with the presence of infiltrating immune cells in forty-two PitNETs of different lineages, we performed whole transcriptome analysis and RT-qPCR. Deconvolution analysis was carried out to infer the immune cell types present in each tumor and the presence of immune cells was confirmed by immunofluorescence. We found characteristic expression profiles of immune-related genes including those encoding interleukins and chemokines for each tumor lineage. Genes such as , , , , and were upregulated in all PitNETS, whereas , , and characterize the , -, and -derived tumors, respectively. Transcriptome deconvolution analysis showed that M2 macrophages, CD4+ T cells, CD8+ T cells, NK cells, and neutrophils can potentially infiltrate PitNET. Furthermore, CD4+ and CD8+ T cells and NK cells infiltration was validated by immunofluorescence. Expression of , and as well as macrophage tumor infiltration could identify patients who can potentially benefit from treatment with immune checkpoint inhibitors.
Topics: Humans; Pituitary Neoplasms; Tumor Microenvironment; Neuroendocrine Tumors; Transcriptome; Gene Expression Regulation, Neoplastic; Gene Expression Profiling; Male; Female; Lymphocytes, Tumor-Infiltrating; Middle Aged; Adult
PubMed: 38790160
DOI: 10.3390/genes15050531 -
World Journal of Surgical Oncology May 2024Craniopharyngiomas (CPs) are generally derived from the craniopharyngeal duct epithelium, accounting for 38% and 24.5% of mortality in pediatric and adult patients,... (Meta-Analysis)
Meta-Analysis Review
Endoscopic endonasal transsphenoidal approach improves endocrine function and surgical outcome in primary craniopharyngioma resection: a systematic review and meta-analysis.
BACKGROUND
Craniopharyngiomas (CPs) are generally derived from the craniopharyngeal duct epithelium, accounting for 38% and 24.5% of mortality in pediatric and adult patients, respectively. At present, the widespread application of the endoscopic endonasal transsphenoidal approach (EEA) has led to controversy between the traditional microscopic transcranial approach (TCA) and EEA in relation to the surgical management of CPs.
OBJECT AND METHOD
We performed a systematic review and meta-analysis comparing the complications, surgical outcomes, and endocrine functions of patients with CPs to provide evidence-based decision-making in their surgical management.
RESULT
Overall, 11 observational studies with 12,212 participants were included in the meta-analysis, in which five of them only included an adult population, three of them only included a child population, and the other three studies included a mixed population (adult and child). In pediatric patients, the EEA achieved a higher gross total resection (GTR) rate (odds ratio (OR) = 5.25, 95%CI: 1.21-22.74), lower recurrence rate (OR = 0.54, 95%CI: 0.31-0.94, p = 0.030), and less hypopituitarism (OR = 0.34, 95%CI: 0.12-0.97, p = 0.043). In adult patients, EEA significantly improved mortality (OR = 0.09, 95%CI: 0.06-0.15, p < 0.001) and visual outcomes (visual improvement: OR = 3.42, 95%CI: 1.24-9.40, p = 0.017; visual deficit: OR = 0.30, 95%CI: 0.26-0.35) with decreases in postoperative stroke (OR = 0.58, 95%CI: 0.51-0.66, p < 0.001), hydrocephalus, and infections (OR = 0.32, 95%CI: 0.24-0.42, p < 0.001).
CONCLUSION
Compared with the traditional TCA in primary CP resection, the development and wide application of EEA optimistically decreased the recurrence rate of CP, alleviated hypopituitarism with improvement in the GTR rate of pediatric patients, and significantly improved the visual outcomes, hydrocephalus, postoperative stroke, survival, and infection rates of the patients. Therefore, EEA is an optimal approach for primary CP resection.
Topics: Humans; Craniopharyngioma; Pituitary Neoplasms; Postoperative Complications; Prognosis; Treatment Outcome; Neoplasm Recurrence, Local; Endoscopy
PubMed: 38790064
DOI: 10.1186/s12957-024-03411-8 -
BMC Cancer May 2024Brachytherapy has been indicated as an alternative option for treating cystic craniopharyngiomas (CPs). The potential benefits of brachytherapy for CPs have not yet been... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Brachytherapy has been indicated as an alternative option for treating cystic craniopharyngiomas (CPs). The potential benefits of brachytherapy for CPs have not yet been clarified. The purpose of this work was to conduct a meta-analysis to analyze the long-term efficacy and adverse reactions profile of brachytherapy for CPs.
MATERIALS AND METHODS
The relevant databases were searched to collect the clinical trials on brachytherapy in patients with CPs. Included studies were limited to publications in full manuscript form with at least 5-year median follow-up, and adequate reporting of treatment outcomes and adverse reactions data. Stata 12.0 was used for data analysis.
RESULTS
According to the inclusion and exclusion criteria, a total of 6 clinical trials involving 266 patients with CPs were included in this meta-analysis. The minimum average follow-up was 5 years. The results of the meta-analysis showed that 1-year, 2-3 years and 5 years progression free survival rates (PFS) are 75% (95%CI: 66-84%), 62% (95%CI: 52-72%) and 57% (95%CI: 22-92%), respectively. At the last follow-up, less than 16% of patients with visual outcomes worser than baseline in all included studies. While, for endocrine outcomes, less than 32% of patients worser than baseline level.
CONCLUSION
In general, based on the above results, brachytherapy should be considered as a good choice for the treatment of CP.
Topics: Humans; Brachytherapy; Craniopharyngioma; Follow-Up Studies; Pituitary Neoplasms; Treatment Outcome; Progression-Free Survival
PubMed: 38790011
DOI: 10.1186/s12885-024-12397-1 -
Clinical and Translational Medicine May 2024The three-dimensional (3D) genome architecture plays a critical role inregulating gene expression. However, the specific alterations in thisarchitecture within...
BACKGROUND
The three-dimensional (3D) genome architecture plays a critical role inregulating gene expression. However, the specific alterations in thisarchitecture within somatotroph tumors and their implications for gene expression remain largely unexplored.
METHODS
We employed Hi-C and RNA-seq analyses to compare the 3D genomic structures of somatotroph tumors with normal pituitary tissue. This comprehensive approachenabled the characterization of A/B compartments, topologically associateddomains (TADs), and chromatin loops, integrating these with gene expression patterns.
RESULTS
We observed a decrease in both the frequency of chromosomal interactions andthe size of TADs in tumor tissue compared to normal tissue. Conversely, the number of TADs and chromatin loops was found to be increased in tumors. Integrated analysis of Hi-C and RNA-seq data demonstrated that changes inhigher-order chromat in structure were associated with alterations in gene expression. Specifically, genes in A compartments showed higher density and increased expression relative to those in B compartments. Moreover, the weakand enhanced insulation boundaries were identified, and the associated genes were enriched in the Wnt/β-Catenin signaling pathway. We identified the gainedand lost loops in tumor and integrated these differences with transcriptional changes to examine the functional relevance of the identified loops. Notably, we observed an enhanced insulation boundary and a greater number of loops in the TCF7L2 gene region within tumors, which was accompanied by an upregulation of TCF7L2 expression. Subsequently, TCF7L2 expression was confirmed through qRT-PCR, and upregulated TCF7L2 prompted cell proliferation and growth hormone (GH) secretion in vitro.
CONCLUSION
Our results provide comprehensive 3D chromatin architecture maps of somatotroph tumors and offer a valuable resource for furthering the understanding of the underlying biology and mechanisms of gene expression regulation.
Topics: Humans; Chromatin; Pituitary Neoplasms; Somatotrophs
PubMed: 38769659
DOI: 10.1002/ctm2.1682 -
Acta Neuropathologica May 2024Pituitary neuroendocrine tumors (PitNETs) exhibiting aggressive, treatment-refractory behavior are the rare subset that progress after surgery, conventional medical...
Pituitary neuroendocrine tumors (PitNETs) exhibiting aggressive, treatment-refractory behavior are the rare subset that progress after surgery, conventional medical therapies, and an initial course of radiation and are characterized by unrelenting growth and/or metastatic dissemination. Two groups of patients with PitNETs were sequenced: a prospective group of patients (n = 66) who consented to sequencing prior to surgery and a retrospective group (n = 26) comprised of aggressive/higher risk PitNETs. A higher mutational burden and fraction of loss of heterozygosity (LOH) was found in the aggressive, treatment-refractory PitNETs compared to the benign tumors (p = 1.3 × 10 and p = 8.5 × 10, respectively). Within the corticotroph lineage, a characteristic pattern of recurrent chromosomal LOH in 12 specific chromosomes was associated with treatment-refractoriness (occurring in 11 of 14 treatment-refractory versus 1 of 14 benign corticotroph PitNETs, p = 1.7 × 10). Across the cohort, a higher fraction of LOH was identified in tumors with TP53 mutations (p = 3.3 × 10). A machine learning approach identified loss of heterozygosity as the most predictive variable for aggressive, treatment-refractory behavior, outperforming the most common gene-level alteration, TP53, with an accuracy of 0.88 (95% CI: 0.70-0.96). Aggressive, treatment-refractory PitNETs are characterized by significant aneuploidy due to widespread chromosomal LOH, most prominently in the corticotroph tumors. This LOH predicts treatment-refractoriness with high accuracy and represents a novel biomarker for this poorly defined PitNET category.
Topics: Humans; Loss of Heterozygosity; Pituitary Neoplasms; Neuroendocrine Tumors; Male; Female; Middle Aged; Adult; Aged; Retrospective Studies; Mutation; Prospective Studies
PubMed: 38758238
DOI: 10.1007/s00401-024-02736-8 -
Frontiers in Endocrinology 2024The 2022 World Health Organization (WHO) classification of pituitary neuroendocrine tumour (PitNET) supersedes the previous one in 2017 and further consolidates the role...
BACKGROUND
The 2022 World Health Organization (WHO) classification of pituitary neuroendocrine tumour (PitNET) supersedes the previous one in 2017 and further consolidates the role of transcription factors (TF) in the diagnosis of PitNET. Here, we investigated the clinical utility of the 2022 WHO classification, as compared to that of 2017, in a cohort of patients with non-functioning PitNET (NF-PitNET).
METHODS
A total of 113 NF-PitNET patients who underwent resection between 2010 and 2021, and had follow-up at Queen Mary Hospital, Hong Kong, were recruited. Surgical specimens were re-stained for the three TF: steroidogenic factor (SF-1), T-box family member TBX19 (TPIT) and POU class 1 homeobox 1 (Pit-1). The associations of different NF-PitNET subtypes with tumour-related outcomes were evaluated by logistic and Cox regression analyses.
RESULTS
Based on the 2022 WHO classification, the majority of NF-PitNET was SF-1-lineage tumours (58.4%), followed by TPIT-lineage tumours (18.6%), tumours with no distinct lineage (16.8%) and Pit-1-lineage tumours (6.2%). Despite fewer entities than the 2017 classification, significant differences in disease-free survival were present amongst these four subtypes (Log-rank test p=0.003), specifically between SF-1-lineage PitNET and PitNET without distinct lineage (Log-rank test p<0.001). In multivariable Cox regression analysis, the subtype of PitNET without distinct lineage (HR 3.02, 95% CI 1.28-7.16, p=0.012), together with tumour volume (HR 1.04, 95% CI 1.01-1.07, p=0.017), were independent predictors of a composite of residual or recurrent disease.
CONCLUSION
The 2022 WHO classification of PitNET is a clinically useful TF and lineage-based system for subtyping NF-PitNET with different tumour behaviour and prognosis.
Topics: Humans; World Health Organization; Female; Male; Middle Aged; Pituitary Neoplasms; Neuroendocrine Tumors; Adult; Aged; Prognosis; Young Adult; Follow-Up Studies; T-Box Domain Proteins
PubMed: 38756997
DOI: 10.3389/fendo.2024.1368944 -
BMC Medical Imaging May 2024Brain tumor classification using MRI images is a crucial yet challenging task in medical imaging. Accurate diagnosis is vital for effective treatment planning but is...
Brain tumor classification using MRI images is a crucial yet challenging task in medical imaging. Accurate diagnosis is vital for effective treatment planning but is often hindered by the complex nature of tumor morphology and variations in imaging. Traditional methodologies primarily rely on manual interpretation of MRI images, supplemented by conventional machine learning techniques. These approaches often lack the robustness and scalability needed for precise and automated tumor classification. The major limitations include a high degree of manual intervention, potential for human error, limited ability to handle large datasets, and lack of generalizability to diverse tumor types and imaging conditions.To address these challenges, we propose a federated learning-based deep learning model that leverages the power of Convolutional Neural Networks (CNN) for automated and accurate brain tumor classification. This innovative approach not only emphasizes the use of a modified VGG16 architecture optimized for brain MRI images but also highlights the significance of federated learning and transfer learning in the medical imaging domain. Federated learning enables decentralized model training across multiple clients without compromising data privacy, addressing the critical need for confidentiality in medical data handling. This model architecture benefits from the transfer learning technique by utilizing a pre-trained CNN, which significantly enhances its ability to classify brain tumors accurately by leveraging knowledge gained from vast and diverse datasets.Our model is trained on a diverse dataset combining figshare, SARTAJ, and Br35H datasets, employing a federated learning approach for decentralized, privacy-preserving model training. The adoption of transfer learning further bolsters the model's performance, making it adept at handling the intricate variations in MRI images associated with different types of brain tumors. The model demonstrates high precision (0.99 for glioma, 0.95 for meningioma, 1.00 for no tumor, and 0.98 for pituitary), recall, and F1-scores in classification, outperforming existing methods. The overall accuracy stands at 98%, showcasing the model's efficacy in classifying various tumor types accurately, thus highlighting the transformative potential of federated learning and transfer learning in enhancing brain tumor classification using MRI images.
Topics: Humans; Brain Neoplasms; Magnetic Resonance Imaging; Deep Learning; Neural Networks, Computer; Machine Learning; Image Interpretation, Computer-Assisted
PubMed: 38750436
DOI: 10.1186/s12880-024-01261-0 -
PloS One 2024Cardiovascular diseases (CVDs) and cancer are the two main leading causes of death and disability worldwide. Suboptimal diet, poor in vegetables, fruits, legumes and... (Review)
Review
CONTEXT
Cardiovascular diseases (CVDs) and cancer are the two main leading causes of death and disability worldwide. Suboptimal diet, poor in vegetables, fruits, legumes and whole grain, and rich in processed and red meat, refined grains, and added sugars, is a primary modifiable risk factor. Based on health, economic and ethical concerns, plant-based diets have progressively widespread worldwide.
OBJECTIVE
This umbrella review aims at assessing the impact of animal-free and animal-products-free diets (A/APFDs) on the risk factors associated with the development of cardiometabolic diseases, cancer and their related mortalities.
DATA SOURCES
PubMed and Scopus were searched for reviews, systematic reviews, and meta-analyses published from 1st January 2000 to 31st June 2023, written in English and involving human subjects of all ages. Primary studies and reviews/meta-analyses based on interventional trials which used A/APFDs as a therapy for people with metabolic diseases were excluded.
DATA EXTRACTION
The umbrella review approach was applied for data extraction and analysis. The revised AMSTAR-R 11-item tool was applied to assess the quality of reviews/meta-analyses.
RESULTS
Overall, vegetarian and vegan diets are significantly associated with better lipid profile, glycemic control, body weight/BMI, inflammation, and lower risk of ischemic heart disease and cancer. Vegetarian diet is also associated with lower mortality from CVDs. On the other hand, no difference in the risk of developing gestational diabetes and hypertension were reported in pregnant women following vegetarian diets. Study quality was average. A key limitation is represented by the high heterogeneity of the study population in terms of sample size, demography, geographical origin, dietary patterns, and other lifestyle confounders.
CONCLUSIONS
Plant-based diets appear beneficial in reducing cardiometabolic risk factors, as well as CVDs, cancer risk and mortality. However, caution should be paid before broadly suggesting the adoption of A/AFPDs since the strength-of-evidence of study results is significantly limited by the large study heterogeneity alongside the potential risks associated with potentially restrictive regimens.
Topics: Humans; Neoplasms; Diet, Vegetarian; Cardiovascular Diseases; Risk Factors; Diet, Vegan
PubMed: 38748667
DOI: 10.1371/journal.pone.0300711