Cancer reports最新文献

{"title":"Identification of Novel Potential Predisposing Variants in Familial Acute Myeloid Leukemia","authors":"Chiara Ronchini,&nbsp;Federica Gigli,&nbsp;Martina Fontanini,&nbsp;Raffaella Furgi,&nbsp;Viviana Amato,&nbsp;Fabio Giglio,&nbsp;Giuliana Gregato,&nbsp;Francesco Bertolini,&nbsp;Michela Rondoni,&nbsp;Francesco Lanza,&nbsp;Atto Billio,&nbsp;Enrico Derenzini,&nbsp;Corrado Tarella,&nbsp;Pier Giuseppe Pelicci,&nbsp;Myriam Alcalay,&nbsp;Elisabetta Todisco","doi":"10.1002/cnr2.2141","DOIUrl":"10.1002/cnr2.2141","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Myeloid neoplasms, including acute myeloid leukemia, have been traditionally among the less investigated cancer types concerning germline predisposition. Indeed, myeloid neoplasms with germline predisposition are challenging to identify because often display similar clinical and morphological characteristics of sporadic cases and have similar age at diagnosis. However, a misidentifications of familiarity in myeloid neoplasms have a critical impact on clinical management both for the carriers and their relatives.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>We conducted a family segregation study, in order to identify novel cancer predisposing genes in myeloid neoplasms and classify novel identified variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and Results</h3>\u0000 \u0000 <p>We performed a thorough genomic analysis using a large custom gene panel (256 genes), the Myelo-Panel, targeted on cancer predisposing genes. In particular, we assessed both germline and somatic variants in four families, each with two siblings, who developed hematological neoplasms: seven acute myeloid leukemia and one Philadelphia-positive chronic myeloid leukemia. In each family, we identified at least one novel potentially predisposing variant, affecting also genes not included in the current European LeukemiaNet guidelines for AML management. Moreover, we suggest reclassification of two germline variants as pathogenic: likely pathogenic p.S21Tfs*139 in <i>CEPBA</i> and VUS p.K392Afs*66 in <i>DDX41</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We believe that predisposition to hematological neoplasms is still underestimated and particularly difficult to diagnosed. Considering that misidentification of familiarity in myeloid neoplasms have a critical impact on the clinical management both for the carriers and their relatives, our study highlights the importance of revision, in this clinical context, of clinical practices that should include thorough reconstruction of family history and in-depth genetic testing.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11310090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141905971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering the Molecular Complexity of Hepatocellular Carcinoma: Unveiling Novel Biomarkers and Therapeutic Targets Through Advanced Bioinformatics Analysis","authors":"Ata Moghimi,&nbsp;Nasrin Bani Hosseinian,&nbsp;Mahdi Mahdipour,&nbsp;Ehsan Ahmadpour,&nbsp;Alberto Miranda-Bedate,&nbsp;Saeid Ghorbian","doi":"10.1002/cnr2.2152","DOIUrl":"10.1002/cnr2.2152","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hepatocellular carcinoma (HCC) represents a primary liver tumor characterized by a bleak prognosis and elevated mortality rates, yet its precise molecular mechanisms have not been fully elucidated. This study uses advanced bioinformatics techniques to discern differentially expressed genes (DEGs) implicated in the pathogenesis of HCC. The primary objective is to discover novel biomarkers and potential therapeutic targets that can contribute to the advancement of HCC research.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The bioinformatics analysis in this study primarily utilized the Gene Expression Omnibus (GEO) database as data source. Initially, the Transcriptome analysis console (TAC) screened for DEGs. Subsequently, we constructed a protein–protein interaction (PPI) network of the proteins associated to the identified DEGs with the STRING database. We obtained our hub genes using Cytoscape and confirmed the results through the GEPIA database. Furthermore, we assessed the prognostic significance of the identified hub genes using the GEPIA database. To explore the regulatory interactions, a miRNA-gene interaction network was also constructed, incorporating information from the miRDB database. For predicting the impact of gene overexpression on drug effects, we utilized CANCER DP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A comprehensive analysis of HCC gene expression profiles revealed a total of 4716 DEGs, consisting of 2430 upregulated genes and 2313 downregulated genes in HCC sample compared to healthy control group. These DEGs exhibited significant enrichment in key pathways such as the PI3K-Akt signaling pathway, nuclear receptors meta-pathway, and various metabolism-related pathways. Further exploration of the PPI network unveiled the P53 signaling pathway and pyrimidine metabolism as the most prominent pathways. We identified 10 hub genes (<i>ASPM</i>, <i>RRM2</i>, <i>CCNB1</i>, <i>KIF14</i>, <i>MKI67</i>, <i>SHCBP1</i>, <i>CENPF</i>, <i>ANLN</i>, <i>HMMR</i>, and <i>EZH2</i>) that exhibited significant upregulation in HCC samples compared to healthy control group. Survival analysis indicated that elevated expression levels of these genes were strongly associated with changes in overall survival in HCC patients. Lastly, we identified specific miRNAs that were found to influence the expression of these genes, providing valuable insights into potential regulatory mechanisms underlying HCC progression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The findings of this study have successfully id","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11310554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141905967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Application of Tocilizumab in a Patient With Neoadjuvant Immunochemotherapy-Induced Cytokine Release Syndrome","authors":"Soichiro Minami,&nbsp;Yosuke Kawashima,&nbsp;Yasuhiko Munakata,&nbsp;Masahiro Matsuno,&nbsp;Shuichiro Hara,&nbsp;Yusuke Yamazaki,&nbsp;Tsuyoshi Doman,&nbsp;Shin Saito,&nbsp;Tetsuo Odaka,&nbsp;Takahiro Ogasawara,&nbsp;Hisashi Shimizu,&nbsp;Jun Sugisaka,&nbsp;Tomoiki Aiba,&nbsp;Yukihiro Toi,&nbsp;Shinsuke Yamanda,&nbsp;Yuichiro Kimura,&nbsp;Shunichi Sugawara","doi":"10.1002/cnr2.2145","DOIUrl":"10.1002/cnr2.2145","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The expansion of preoperative immunochemotherapy has led to an increase in the number of patients with lung cancer receiving immune checkpoint inhibitors (ICIs). Therefore, oncologists should manage a variety of immune-related adverse events (irAEs). One of the rare, life-threatening, and recently proposed irAEs is cytokine release syndrome (CRS). Although the standard treatment of irAE is systemic administration of steroids, it has been suggested that tocilizumab may be an effective treatment option for CRS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>This case describes a 69-year-old man with stage IIIA lung adenocarcinoma who received chemotherapy and nivolumab, which is an ICI, as neoadjuvant immunochemotherapy. After the first administration, the patient developed severe skin rash, fever, and arthralgia. We suspected irAEs and administered systemic steroids. However, fever and arthralgia did not improve, although the skin rash disappeared. These were also significant challenges for surgery. Noting the elevated levels of inflammatory cytokines, we consulted a rheumatologist. Finally, we decided to terminate neoadjuvant therapy after one cycle and administer tocilizumab. Tocilizumab dramatically improved the patient's symptoms and allowed him to undergo radical surgery. Pathological findings revealed that the patient achieved a major pathological response.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This indicates the potential effectiveness of early tocilizumab administration for ICI-induced CRS, even in mild cases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270316/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of biopsy-proven acute interstitial nephritis following atezolizumab-bevacizumab treatment of advanced unresectable hepatocellular carcinoma","authors":"Reema Patel,&nbsp;Omar Elghawy,&nbsp;Amanda Gibbs,&nbsp;Srishti Gupta,&nbsp;Varinder Kaur","doi":"10.1002/cnr2.2110","DOIUrl":"10.1002/cnr2.2110","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The advent of immune checkpoint inhibitors (ICIs) represented a significant breakthrough in cancer therapy. Recently, the combined use of atezolizumab and bevacizumab was approved as first-line treatment for unresectable hepatocellular carcinoma (HCC). Exposure to a novel and diverse spectrum of immune-related adverse events (irAEs) has increased with the growing utilization of ICIs, however, a comprehensive understanding surrounding newer agents is still lacking. The incidence of kidney toxicities is rare but rising, often underreported due to the lack of confirmatory biopsies. Here, we present a rare case of biopsy-proven acute interstitial nephritis (AIN) following atezolizumab-bevacizumab treatment of advanced unresectable HCC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>An 84-year-old male with T4N0M0 hepatocellular carcinoma was admitted after cycle 5 of atezolizumab due to decreased urine output and dysuria with a serum creatine of 4.7 mg/dL compared to a baseline of 1.3 mg/dL. To confirm the diagnosis of possible intrinsic renal injury, an ultrasound-guided non-focal biopsy of the left kidney was performed, revealing AIN. Potential exacerbatory medications, such as proton-pump inhibitors, were discontinued. The patient was discharged on oral steroids with improvement in serum creatinine. Before completing the steroid taper, the patient developed pneumocystis pneumonia and eventually transitioned to hospice care.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This case highlights the valuable role renal biopsy can play in accurately capturing irAEs and guiding appropriate management in the setting of ICI-induced AKI. It also exemplifies important considerations for steroid treatment of irAEs in the setting of comorbidities, such as diabetes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270322/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Study of the stress in adults diagnosed with meningioma: Insights from a tertiary neurosurgical hospital","authors":"Karashash Menlibayeva,&nbsp;Chingiz Nurimanov,&nbsp;Saken Nuradilov,&nbsp;Serik Akshulakov","doi":"10.1002/cnr2.2105","DOIUrl":"10.1002/cnr2.2105","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Meningiomas are the most common type of primary brain tumor, originating from the meninges – the protective membranes that surround the brain and spinal cord. Several well-studied risk factors for meningiomas include gender, age, radiation exposure, genetic factors, and hormonal factors. Moreover, the influence of a person's psycho-emotional stateon their overall health and mental well-being, specifically stress, iscurrently a significant and relevant topic of discussion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>This case–control study aimed to study the association between perceived stress, chronic stress, and meningioma in adult patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and results</h3>\u0000 \u0000 <p>The study included cases, which comprised adult patients with histologically confirmed meningioma, and controls, consisting of adult patients with no history of brain cancer. Data collection involved the use of three types of questionnaires. The first questionnaire focused on patients' personal information, geographic factors, and lifestyle habits. Two additional questionnaires “The Perceived Stress Scale” and “The Chronic Stress Scale” were employed to assess perceived stress and chronic stress. The questioning was conducted by a neurologist. Microsoft Excel and Stata 14 were used for the data analysis. Overall, 148 questionnaires were completed and included in the analyses. The average age of participants was 45.60 ± 13.90 years. Females outnumbered males in both groups. Patients with meningioma diagnosis had a higher level of perceived high stress compared to those without meningioma (<i>p</i> = .045). Respondents without a diagnosis of meningioma have reported having more chronic stress in general and ambient problems (<i>p</i> = .004), financial issues (<i>p</i> = .006), work (<i>p</i> &lt; .001), non-employment (<i>p</i> = .008), love and marriage (<i>p</i> &lt; .001), isolation (<i>p</i> &lt; .001), and residence (<i>p</i> &lt; .001). Patients with meningioma, however, had less chronic stress compared to meningioma-free patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study revealed no discernible connection between stress and meningioma within our study sample. Further research with matched case–control methodology with a larger sample size is warranted to thoroughly evaluate the potential role of stress in patients with meningioma.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nomogram for predicting outcomes in elderly women with mucinous breast cancer: A retrospective study combined with external validation in southwest China","authors":"Zhaoxia Zhang,&nbsp;Chenghao Zhanghuang,&nbsp;Qian Cai,&nbsp;Guangye Song,&nbsp;Quan Wang,&nbsp;Yue Tang,&nbsp;Hongbo Li","doi":"10.1002/cnr2.2112","DOIUrl":"10.1002/cnr2.2112","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Mucinous breast cancer (MBC) is a kind of breast cancer (BC), which is rare in clinic, mainly for women, because of the low incidence rate, so there is no unified standard treatment protocol. Elderly patients have a poor prognosis due to their combined comorbidities. This study aims to investigate the effect of surgery and chemoradiotherapy on the prognosis of elderly female MBC patients and construct nomograms for predicting the OS and CSS in elderly female MBC patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data for female MBC patients over 65 years are obtained from the Surveillance, Epidemiology and End Results (SEER) database, patients were divided into two groups: the training set and the validation set. External validation data of the prediction model were provided by Kunming Hospital of Traditional Chinese Medicine. We used Cox regression modeling, which was used to identify independent risk factors affecting patient prognosis. After avoiding confounding bias according to the multifactorial Cox regression model, we used these screened statistically significant results to construct column-line plots. The performance of the model was tested using the consistency index (c-index), the calibration curve, and the area under the operating characteristic curve of the receiver (AUC). Subsequently, we used decision curve analysis (DCA) to examine the potential clinical value of our nomograms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 8103 elderly MBC female patients were extracted from the database SEER and were assigned to the training and validation set, randomly. A total of 83 patients from Kunming Hospital of Traditional Chinese Medicine were used in the external verification set. After multifactorial Cox regression analysis, we found that age, race, T-stage, M-stage, surgical approach, radiotherapy, and tumor size were independent risk factors for OS in elderly MBC patients. Similarly, independent risk factors of CSS included age, marital status, N stage, M stage, surgical approach, chemotherapy, and tumor size. The C-index for the OS training, validation, and external verification set were 0.731 (95%CI 0.715–0.747), 0.738 (95%CI 0.724–0.752), and 0.809 (95%CI 0.731–0.8874). The C-index of the training set, the validation set, and external verification set for CSS were 0.786 (95%CI 0.747–0.825), 0.776 (95%CI 0.737–0.815), and 0.84 (95%CI0.754–0.926), respectively. The AUC, calibration curves and DCA also showed good accuracy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In this s","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of children treated for relapsed or refractory acute lymphoblastic leukemia: A single tertiary care center experience","authors":"Mosfer AlMalki,&nbsp;Mohammed Abdulatef,&nbsp;Hassan Altrabolsi,&nbsp;Nasser Shubayr","doi":"10.1002/cnr2.2117","DOIUrl":"10.1002/cnr2.2117","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Acute lymphoblastic leukemia (ALL) is one of the most common malignancies among children. Despite success in frontline treatment, 20% of children will relapse or show resistance to treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The aim of this study is to evaluate the clinical characteristics of children diagnosed and treated for refractory or relapsed ALL and determine 3-year overall survival (OS) outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This study involved a retrospective chart review of patients aged 1–14 years diagnosed with ALL during January 2002 to December 2018. Data were extracted for baseline characteristics at diagnosis and at relapse.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 347 newly diagnosed children with ALL were identified, among whom there were three induction failures (IF) and 28 relapses, resulting in a cohort of 31 patients with a relapse rate of 9%. The male-to-female ratio was 4.16:1, and the mean duration of first complete remission (CR1) was 26 months. Fifteen (48%) patients relapsed ≤18 months, 7 (23%) during 18–36 months, and 9 (29%) relapsed &gt;36 months of IF or CR1. Nineteen patients (61%) had isolated bone marrow (BM) relapse, 7 (23%) patients experienced isolated extramedullary relapse (5 isolated CNS relapse and 2 isolated testicular relapse), and 5 (16%) patients experienced BM involvement with other sites (4 BM + CNS and 1 BM + testis). The 3-year OS of the cohort was 62.3%, while in patients with CR post first-salvage therapy, a 3-year OS of 79.5% was observed (<i>p</i> value &lt;.05 compared with patients who did not achieve remission post first-salvage therapy, 3-year OS: 46.4%). The same statistical difference was observed in 3-year OS when comparing the duration of remission of CR prior to relapse: ≤18 months, 33.2%; 18–36 months, 66.7%; and &gt;36 months, 87.5%. The same trend continued when comparing 3-year OS based on risk stratification at relapse: low risk (LR), 83.3%; intermediate risk (IR), 80%; and high risk (HR), 44.8%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The incidence and outcomes reported are comparable to internationally reported data regarding the duration of CR1. Risk stratification at relapse and remission status post-salvage therapy were identified as significant prognostic factors for survival. No survival difference was observed among patients who received hematopoietic stem cell transplantation after i","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying Oncogenic Missense Single Nucleotide Polymorphisms in Human SAT1 Gene Using Computational Algorithms and Molecular Dynamics Tools","authors":"Md. Mozibullah,&nbsp;Marina Khatun,&nbsp;Md. Asaduzzaman Sikder,&nbsp;Mohammod Johirul Islam,&nbsp;Mehbuba Sharmin","doi":"10.1002/cnr2.2130","DOIUrl":"10.1002/cnr2.2130","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The human <i>SAT1</i> gene encodes spermidine/spermine N1-acetyltransferase 1 (SSAT1), a regulatory biological catalyst of polyamine catabolism. Numerous essential biological processes, such as cellular proliferation, differentiation, and survival, depend on polyamines like spermidine and spermine. Thus, SSAT1 is involved in key cellular activities such as proliferation and survival of cells and mediates various diseases including cancer. A plethora of studies established the involvement of missense single nucleotide polymorphisms (SNPs) in numerous pathological conditions due to their ability to adversely affect the structure and subsequent function of the protein.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>To date, an in silico study to identify the pathogenic missense SNPs of the human <i>SAT1</i> gene has not been accomplished yet. This study aimed to filter the missense SNPs that were functionally detrimental and pathogenic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and Results</h3>\u0000 \u0000 <p>The rs757435207 (I21N) was ascertained to be the most deleterious and pathogenic by all algorithmic tools. Stability and evolutionary conservation analysis tools also stated that I21N variant decreased the stability and was located in the highly conserved residue. Molecular dynamics simulation revealed that I21N caused substantial alterations in the conformational stability and dynamics of the SSAT1 protein. Consequently, the I21N variant could disrupt the native functional roles of the SSAT1 enzyme.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Therefore, the I21N variant was identified and concluded to be an oncogenic missense variant of the human <i>SAT1</i> gene. Overall, the findings of this study would be a great directory of future experimental research to develop personalized medicine.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11264109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Fatal Case of Immune Checkpoint Inhibitor-Mediated Myasthenia Gravis, Myositis, and Cardiomyopathy Overlap Syndrome in Urothelial Carcinoma","authors":"Matthew T. Newman,&nbsp;Mihir Bikhchandani","doi":"10.1002/cnr2.2140","DOIUrl":"10.1002/cnr2.2140","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Immune checkpoint inhibitors (ICIs) have led to improved outcomes for many cancer types. However, their use can also precipitate immune-related adverse events (irAEs) that can affect any organ system. While irAEs are often mild, they rarely affect multiple organ systems concurrently and can be fatal.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>We report a fatal case of myasthenia gravis, myositis, and cardiotoxicity overlap syndrome precipitated by the ICI pembrolizumab along with a brief review of available literature.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Early recognition of high grade irAEs and prompt intervention is essential. Despite the poor prognosis of these overlap syndromes, current recommendations offer little guidance for severe cases and warrant a call for increased awareness and expansion of available therapeutics.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11264068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Systematic Study of Tissue Factor Expression in Solid tumors”","authors":"","doi":"10.1002/cnr2.2143","DOIUrl":"10.1002/cnr2.2143","url":null,"abstract":"<p>de Bono JS, Harris JR, Burm SM, Vanderstichele A, Houtkamp MA, Aarass S, Riisnaes R, Figueiredo I, Nava Rodrigues D, Christova R, Olbrecht S, Niessen HWM, Ruuls SR, Schuurhuis DH, Lammerts van Bueren JJ, Breij ECW, Vergote I. Systematic study of tissue factor expression in solid tumors. <i>Cancer Reports</i>. 2023;6:e1699.</p><p>In Table 1 for the data reported in literature for HNSCC, the TF prevalence (%) should read “58%–100%.” The two references mentioned (Refs. 18 and 19 in the Supporting Information file; Supporting Information References) should read:</p><p>18. Christensen A, Kiss K, Lelkaitis G, Juhl K, Persson M, Charabi BW, Mortensen J, Forman JL, Sorensen AL, Jensen DH, Kjaer A, von Buchwald C. Urokinase-type plasminogen activator receptor (uPAR), tissue factor (TF) and epidermal growth factor receptor (EGFR): tumor expression patterns and prognostic value in oral cancer. <i>BMC Cancer</i>. 2017;17: 572.</p><p>19. Wojtukiewicz MZ, Zacharski LR, Rucinska M, Zimnoch L, Jaromin J, Rozanska-Kudelska M, Kisiel W, Kudryk BJ. Expression of tissue factor and tissue factor pathway inhibitor in situ in laryngeal carcinoma. <i>Thromb Haemost</i>. 1999;82: 1659–1662.</p><p>We apologize for this error.</p>","PeriodicalId":9440,"journal":{"name":"Cancer reports","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11264088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141747525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}