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BioMed Research International 2024[This retracts the article DOI: 10.1155/2022/8740408.].
[This retracts the article DOI: 10.1155/2022/8740408.].
PubMed: 38550181
DOI: 10.1155/2024/9850107 -
Hereditary Cancer in Clinical Practice Mar 2024Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients... (Review)
Review
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies. Regarding hereditary tumors, some patients with ACC are associated with with Li-Fraumeni syndrome (LFS), and those with PPGL with multiple endocrine neoplasia type 2. Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germline TP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type. As an example, R337H variant found in Brazilian is known as low penetrant. While 50-80% of pediatric ACC patients harbored a LFS, such a strong causal relationship is not observed in adult patients, which suggests different pathophysiologies between the two populations. As for PPGL, because multiple driver genes, such as succinate dehydrogenase (SDH)-related genes, RET, NF1, and VHL have been identified, universal multi-gene germline panel testing is warranted as a comprehensive and cost-effective approach. PPGL pathogenesis is divided into three molecular pathways (pseudohypoxia, Wnt signaling, and kinase signaling), and this classification is expected to result in personalized medicine based on genomic profiles. It remains unknown whether clinical characteristics differ between cases derived from genetic predisposition syndromes and sporadic cases, or whether the surveillance strategy should be changed depending on the genetic background or whether it should be uniform. Close cooperation among medical genomics experts, endocrinologists, oncologists, and early investigators is indispensable for improving the clinical management for multifaceted ACC and PPGL.
PubMed: 38532453
DOI: 10.1186/s13053-024-00276-6 -
Reports of Practical Oncology and... 2023The objective was to retrospectively evaluate the contribution of fluorodeoxyglucose [F] positron emission tomography/computed tomography (FDG-PET/CT) to the re-staging...
BACKGROUND
The objective was to retrospectively evaluate the contribution of fluorodeoxyglucose [F] positron emission tomography/computed tomography (FDG-PET/CT) to the re-staging of adrenocortical carcinoma (ACC).
MATERIALS AND METHODS
A total of 16 patients (10 males and 6 females), who underwent adrenalectomy due to adrenocortical carcinoma and FDG-PET/CT scan to re-stage the tumor between July 2007 and April 2013, were included in the present study. The mean age was 53.37 ± 13.91 years (min: 30, max: 74) The patients were required to fast for six hours prior to scanning, and whole-body PET scanning from the skull base to the upper thighs was performed approximately 1 h after the intravenous injection of 555 MBq of F-18 FDG. Whole body CT scanning was performed in the cranio-caudal direction. FDG-PET images were reconstructed using CT data for attenuation correction. Suspicious recurrent or metastatic lesions were confirmed by histopathology or clinical follow-up.
RESULTS
Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of FDG-PET/CT were 100%, 83.3%, 90.9%, 83.3%, and 93.7%, respectively.
CONCLUSION
FDG-PET/CT detects local recurrence and/or distant metastases with high accuracy in the re-staging of operated adrenocortical carcinoma. It is considered that the procedure could play an important role in treatment decision after the operation and post-operative follow-up and could influence the entire decision-making process.
PubMed: 38515818
DOI: 10.5603/rpor.98727 -
Frontiers in Endocrinology 2024Adrenal tumors are common, but adrenocortical carcinomas (ACCs) are a rare and challenging form of cancer to diagnose and manage.This study aimed to explore the critical...
OBJECTIVES
Adrenal tumors are common, but adrenocortical carcinomas (ACCs) are a rare and challenging form of cancer to diagnose and manage.This study aimed to explore the critical role of mitochondrial quality in maintaining cellular function and the implications of the abnormal expression of mitochondrial metabolism-related proteins observed in ACC patients. We focused on identifying the connection between mitochondrial quality and the development of ACC at molecular and genomic levels.
METHODS
We compared mitochondrial quality-related genes (MQRGs) across ACC subtypes using overall survival (OS) and disease-free survival (DFS) as evaluation indicators. Furthermore, a novel MQRG score was developed to predict clinical prognosis and guide immunotherapy responses accurately.
RESULTS
The majority of MQRGs were upregulated in the ACC samples, correlating to poor prognosis. The MQRG score was confirmed as an independent prognostic factor for ACC, with the high-risk MQRG score group showing a significantly shorter overall survival period.
CONCLUSIONS
Multilayer alterations in MQRGs are associated with patient prognosis and immune cell infiltration characteristics. This comprehensive analysis of MQRGs can contribute to a deeper understanding of potential differences in ACC patients' tumor microenvironment. This can influence clinical decision-making and advanced prognosis prediction, thereby offering new insights into personalized treatments in ACC.
Topics: Humans; Adrenocortical Carcinoma; Prognosis; Adrenal Cortex Neoplasms; Disease-Free Survival; Tumor Microenvironment
PubMed: 38505747
DOI: 10.3389/fendo.2024.1222281 -
Heliyon Mar 2024The Adhesion G protein receptor E5 (ADGRE5) gene is involved in a wide range of biological functions in human tumors; however, its specific molecular mechanism and...
PURPOSE
The Adhesion G protein receptor E5 (ADGRE5) gene is involved in a wide range of biological functions in human tumors; however, its specific molecular mechanism and significance in the analysis of human tumors have not yet been determined. Here, we provide a comprehensive genomic architecture of ADGRE5 in the tumor immune microenvironment and its clinical relevance across a broad range of solid tumors.
METHODS
In this study, we used publicly available bioinformatics databases, with a primary focus on The Cancer Genome Atlas (TCGA) database and GTEx data, to conduct a comprehensive analysis of the impact on patient prognosis associated with ADGRE5.
RESULTS
Statistics of more than 30 solid tumors from TCGA and Cancer Cell Line Encyclopedia (CCLE) were examined. ADGRE5 was differentially expressed in several cancers and was significantly associated with survival outcomes. Higher ADGRE5 levels were associated with worse prognosis in adrenocortical carcinoma, low grade glioma of the brain (LGG), lung squamous cell carcinoma, liver hepatocellular carcinoma, and uveal melanoma (UVM). Additionally, ADGRE5 was found to be an independent risk factor for LGG and UVM. The clinical relevance of ADGRE5 in tumor immunogenicity was further investigated. The expression level of ADGRE5 was not only strongly associated with tumor infiltration, such as tumor-infiltrating immune cells and immune subtypes, but also with tumor mutation burden, pyroptosis, and epithelial-mesenchymal transition in various types of cancer (P < 0.05). Furthermore, we noted that ADGRE5 exhibited a positive association with targeted drug sensitivity and conversely, a negative association with traditional chemotherapeutic drug sensitivity. Thus, ADGRE5 is expected to be a guiding marker gene for clinical prognosis and personalized tumor immunotherapy.
PubMed: 38501000
DOI: 10.1016/j.heliyon.2024.e27459 -
Heliyon Mar 2024Endoplasmic reticulum (ER) stress-related genes are closely related to the occurrence, development, and immunotherapy response of tumors. This study provides a...
Endoplasmic reticulum (ER) stress-related genes are closely related to the occurrence, development, and immunotherapy response of tumors. This study provides a comprehensive assessment of HSPA5 from a pan-cancer perspective using multi-omics data. We analyzed the function of HSPA5 in multiple tumor types using multiple databases. Finally, immunohistochemistry was used to examine the relationship between HSPA5 expression in tissue microarrays from 100 patients with bladder cancer and the prognosis of patients with bladder cancer. Using the TCGA database, we were able to determine that HSPA5 is significantly elevated in a number of common malignancies and is linked with a bad prognosis. Cox regression analysis showed that the high expression of HSPA5 was correlated with OS, progression free survival (PFS), disease free survival (DFS), and disease special survival (DSS) of adrenocortical carcinoma (ACC). In addition, we discovered significant disparities in HSPA5 methylation and phosphorylation levels between various malignancies and normal tissues. HSPA5 expression was significantly correlated with the levels of infiltrating cells and immune checkpoint genes. HSPA5 is highly expressed in bladder cancer and patients with high HSPA5 expression have a poor prognosis. Our study provides a basis for further understanding of the role of ER stress-related gene HSPA5 in different tumor genesis and development. HSPA5 has also been shown to be a prognostic biomarker for bladder cancer patients.
PubMed: 38496902
DOI: 10.1016/j.heliyon.2024.e27184 -
BMC Pediatrics Mar 2024The aim of this study was to investigate the clinical features and treatment options for pediatric adrenal incidentalomas(AIs) to guide the diagnosis and treatment of...
BACKGROUND
The aim of this study was to investigate the clinical features and treatment options for pediatric adrenal incidentalomas(AIs) to guide the diagnosis and treatment of these tumors.
METHODS
The clinical data of AI patients admitted to our hospital between December 2016 and December 2022 were collected and retrospectively analyzed. All patients were divided into neonatal and nonneonatal groups according to their age at the time of the initial consultation.
RESULTS
In the neonatal group, 13 patients were observed and followed up, and the masses completely disappeared in 8 patients and were significantly reduced in size in 5 patients compared with the previous findings. Four patients ultimately underwent surgery, and the postoperative pathological diagnosis was neuroblastoma in three patients and teratoma in one patient. In the nonneonatal group, there were 18 cases of benign tumors, including 9 cases of ganglioneuroma, 2 cases of adrenocortical adenoma, 2 cases of adrenal cyst, 2 cases of teratoma, 1 case of pheochromocytoma, 1 case of nerve sheath tumor, and 1 case of adrenal hemorrhage; and 20 cases of malignant tumors, including 10 cases of neuroblastoma, 9 cases of ganglioneuroblastoma, and 1 case of adrenocortical carcinoma.
CONCLUSIONS
Neuroblastoma is the most common type of nonneonatal AI, and detailed laboratory investigations and imaging studies are recommended for aggressive evaluation and treatment in this population. The rate of spontaneous regression of AI is high in neonates, and close observation is feasible if the tumor is small, confined to the adrenal gland and has no distant metastasis.
Topics: Humans; Infant, Newborn; Adrenal Gland Neoplasms; Neuroblastoma; Retrospective Studies; Teratoma
PubMed: 38491421
DOI: 10.1186/s12887-024-04673-7 -
Translational Cancer Research Feb 2024Solute carrier family 31 (copper transporter), member 1 () is a key factor in maintaining intracellular copper concentration and an important factor affecting cancer...
BACKGROUND
Solute carrier family 31 (copper transporter), member 1 () is a key factor in maintaining intracellular copper concentration and an important factor affecting cancer energy metabolism. Therefore, exploring the potential biological function and value of could provide a new direction for the targeted therapy of tumors.
METHODS
This study assessed gene expression levels, survival, clinicopathology, gene mutations, methylation levels, the tumor mutational burden (TMB), microsatellite instability (MSI), and the immune cell infiltration of in pan-cancer using the Tumor Immune Estimation Resource 2.0 (TIMER2.0), Gene Expression Profiling Interactive Analysis (GEPIA), University of Alabama at Birmingham CANcer (UALCAN) data analysis portal, and cBioPortal databases. To further understand the potential biological mechanisms of in different cancers, single-cell level sequencing and a Gene Ontology/Kyoto Encyclopedia of Genes and Genomes (GO/KEGG) enrichment analysis of were also performed. Finally, real-time quantitative polymerase chain reaction (RT-qPCR) and western blotting (WB) were used to validate the expression of in cancers, such as gastric cancer.
RESULTS
was expressed in most cancer tissues. In kidney renal clear cell carcinoma (KIRC), the high expression of was associated with good overall survival (OS), while in adrenocortical carcinoma (ACC), breast invasive carcinoma (BRCA), lower grade glioma (LGG), mesothelioma (MESO), and skin cutaneous melanoma (SKCM), the low expression of was associated with good OS. The highest frequency of amplification was observed in ACC. In addition, missense mutations accounted for a major portion of the mutation types. The truncation mutation S105Y may be a putative cancer driver. affected methylation levels in cancer and was associated with the TMB, MSI, and the level of infiltration of various immune cells. Additionally, the single-cell sequencing results showed that was associated with multiple biological functions in cancer. Finally, the enrichment analysis revealed that the -related genes were mainly enriched in the mitochondrial matrix and envelope vesicles. The RT-qPCR and WB results were consistent with the predicted results.
CONCLUSIONS
may be a potential target related to cancer energy metabolism and may have prognostic value.
PubMed: 38482443
DOI: 10.21037/tcr-23-1308 -
Cancers Feb 2024Immune checkpoint inhibitors (ICIs) have revolutionized the treatment of different malignancies. However, their efficacy in advanced adrenocortical carcinoma (ACC)... (Review)
Review
Immune checkpoint inhibitors (ICIs) have revolutionized the treatment of different malignancies. However, their efficacy in advanced adrenocortical carcinoma (ACC) remains uncertain. Thus, we conducted a systematic review and meta-analysis to summarize the efficacy and tolerability of ICIs in patients with advanced ACC. We searched PubMed, Scopus, and CENTRAL for studies that used ICIs in ACC. Studies with more than five patients were included in the meta-analysis of the objective response rate (ORR), disease control rate (DCR), overall survival (OS), progression-free survival (PFS), and grade 3/4 adverse events. Twenty studies with 23 treatment arms and 250 patients were included. Single-agent anti-PD1 or anti-PD-L1 treatment was utilized in 13 treatment arms, whereas an anti-PD1 or anti-PD-L1 and anti-CTLA4 combination was used in 4 treatment arms. Other anti-PD1- or anti-PD-L1-based combinations were used in five treatment arms. The ORR was 14% (95% CI = 10-19%, I = 0%), and the DCR was 43% (95% CI = 37-50%, I = 13%). The combination anti-PD1- or anti-PD-L1-based treatment strategies did not correlate with higher responses compared with monotherapy. The median OS was 13.9 months (95% CI = 7.85-23.05), and the median PFS was 2.8 months (95% CI = 1.8-5.4). ICIs have a modest efficacy in advanced ACC but a good OS. Further studies are needed to investigate predictive biomarkers for ICI response and to compare ICI-based strategies with the current standard of care.
PubMed: 38473262
DOI: 10.3390/cancers16050900 -
Cureus Feb 2024Sarcomatoid carcinoma of the adrenal gland represents an exceedingly unusual and highly aggressive form of adrenocortical carcinoma. Its diagnosis is challenging because...
Sarcomatoid carcinoma of the adrenal gland represents an exceedingly unusual and highly aggressive form of adrenocortical carcinoma. Its diagnosis is challenging because of its dual histological components: epithelial and sarcomatoid. Most patients are diagnosed at a late stage and die within months of diagnosis. We report on a 51-year-old man who had adrenocortical sarcomatoid cancer. It was diagnosed as a unilateral left adrenal incidentaloma discovered on a CT scan carried out for abdominal pain. By means of this case, we will present the clinical, radiological, and histological profile of this tumor.
PubMed: 38455785
DOI: 10.7759/cureus.53720