bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comprehensive understanding of genomic profile of bone cancer by the combination of DNA and RNA detection.
Authors: Xie Xianbiao , Yin Junqiang , Bian Yiying , Zeng Ziliang , Qu Yueting , Shi Xiaoliang , Zhang Lin , Wang Liwei , Dong XiaoWei , Shen Jingnan 
Published: June 2021

e23513 Background: The diagnosis of bone tumors is mainly based on clinical manifestations, imaging examination, tissue biopsy and laboratory examination. However, most of the bone tumors have no specific clinical manifestations, which makes the diagnosis and differential diagnosis difficult. The genomic profile of bone tumor is helpful to provide molecular basis for its molecular diagnosis. Methods: A total of 357 Chinese bone cancer patients were enrolled in this study. The NGS-based YuanSu S panel which includes both DNA and RNA detection was performed by OrigiMed, a College of American Pathologists (CAP) accredited and Clinical Laboratory Improvement Amendments (CLIA) certified laboratory, Shanghai, China, for genomic alteration identification. Results: The 357 Chinese bone cancer patients were enrolled, including 206 adult patients and 151 juvenile patients, with a median age of 20 years old (ranged from 1 to 88 years). Among them, there were 214 males and 143 females. The most commonly mutated genes with a mutation frequency more than 10% were TP53 (31.65%), NCOR1 (15.69%), VEGFA (13.73%), RB1 (12.61%), CCND3 (11.76%), CDKN2A, GID4, and CCNE1 (11.48%, for each), TERT (10.64%), and MAP2K4 (10.08%). Germline mutations were detected in 28 patients, including 13 patients with HRD related mutations, such as ATM, FANCA, BRCA2, RAD50, RAD51D and FANCD2. A total of 179 gene fusions were detected in 130 bone cancer patients. Notably, 19 gene fusions such as SH2D2A-NTRK1, EMILIN1-ALK, and SZRD1-SPEN, were detected in 16 patients with the assistance of RNA detection. Statistical analysis showed that the mutations of NCOR1 (P = 1.1X10-4), VEGFA (P = 3.4X10-6), CCND3 (P = 1.0X10-5), GID4 (P = 1.1X10-6), CCNE1 (P = 3.0X10-7), RB1 (P = 0.03), and MAP2K4 (P = 1.5X10-4)were significantly associated with juvenile patient group, as well as the mutation of H3F3A (P = 7.5X10-5) was significantly associated with adult patient group. Conclusions: Here we identified the mutational characteristics of Chinese bone tumor patients. In addition, the inclusion of RNA detection effectively increased the detection of gene fusions. Our results provided the evidence for the precise treatment of bone tumors in the future.
Different genomic profiling of sarcoma between Western and Chinese population.
Authors: Teng Sheng , Yang Yun , Zhang Jin , You Xia , Guo Taiyan , Zhang Qin , Duan Qianqian , Qi Chuang 
Published: June 2021

e23532 Background: Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. The clinical presentation and gene mutations in different subtypes are often atypical, and the profile of gene mutations vary widely. Meanwhile there are many genetic mutations difference between West countries patients and Chinese patients in many cancer types, however little is known about soft tissue tumors' difference. Methods: Next-generation sequencing data and clinical data were collected from 255 Western soft-tissue sarcoma patients (TCGA cohort). A 539-gene panel targeted sequencing assay was performed on FFPE tumor samples from 271 Chinese soft-tissue sarcoma patients (Chinese cohort). Both somatic mutations and germline mutations were detected on the Chinese cohort, then we compared the somatic mutations between TCGA and Chinese cohort. Results: In Chinese cohort, top 5 mutant genes were TP53(35.69%), ATRX(14.12%), MUC16(12.94%), RB1(10.98%), CSMD1(8.24%); while in TCGA cohort were TP53(22.88%), MUC16(8.12%), RB1(6.27%), TERT(5.17%), NF1(4.80%). The mutation frequency of 7 genes were higher in TCGA cohort than in Chinese cohort: TP53(35.69% vs 22.88%, p = 0.0015), ATRX(14.12% vs 4.06%, p < 0.001), CSMD1(8.24% vs 1.85%, p < 0.001), LRP1B(6.27% vs 2.21%, p < 0.05), CSMD3(3.92% vs 1.11%, p < 0.05), EPHA7(3.92% vs 0.74%, p < 0.05) and PIK3C2G(3.53% vs 0.37%, p = 0.009). However, TERT showed the opposite, which in TCGA cohort(1.57%) was lower than Chinese cohort(5.17%)(p < 0.05). Meanwhile, we detected the germline mutations in Chinese cohort. There are three patients had BRCA1 mutations, the SLX4, TP53, MUTYH, ATM, ERCC3 and NBN were all only happened once. There were 21 patients from Chinese cohort had EWSR1-X fusions, including EWSR1-ERG(6/21, 28%), EWSR1-FLI1(6/21,28%), EWSR1-ATF1(4/21,19%), EWSR1-CREB1(1/21,5%), EWSR1-DCTN2 (1/21, 5%), EWSR1-POU5F1(1/21, 5%), EWSR1-WT1(1/21, 5%).Besides, we discovered a novel fusion gene EWSR1-DDIT3(1/21, 5%) in Chinese cohort. Conclusions: We described the general landscape and differences of genetic variation in Chinese and Western populations, we also discovered some new mutations such as novel fusion.In conclusion, comprehensive genomic profiling in a large cohort highlights the promise of targeted therapies.
Efficacy of targeted therapy in alveolar soft part sarcoma: A systematic review and meta-analysis.
Authors: Kim Na Hyun , Sun Chenyu , Prasad Apurwa , Mohammed Abdul Humaed , Batool Saba , Verghese Dhiran , Kozma Kelley Elizabeth 
Published: June 2021

e23543 Background: Alveolar soft part sarcoma (ASPS) is a rare subtype of soft tissue sarcoma, characterized by a specific unbalanced translocation leading to the fusion of the TFE3 gene on chromosome-X to the ASPSCR1 gene on chromosome-17. Despite its indolent course, ASPS presents a challenge in treatment due to its resistance to conventional anthracycline-based chemotherapy and lack of large scale trial data for this rare sarcoma. This review aimed to assess the efficacy of tyrosine kinase inhibitors (TKI) and immune checkpoint inhibitors (ICI) in metastatic alveolar soft part sarcoma. Methods: A systematic search was performed on Embase and Medline databases for studies that assessed best response of patients with unresectable or metastatic ASPS to TKI and ICI therapy, according to the Response Evaluation Criteria in Solid Tumors (RECIST) edition 1.0 or 1.1. This study followed the Preferred Reporting Items for Systematic Reviews (PRISMA) protocol. Four independent reviewers screened abstracts and extracted the data; any discrepancy was resolved by discussion among reviewers. Pooled objective response rate (ORR) and disease control rate (DCR) were obtained using the Freeman-Tukey double-arcsine transformation using random effects model on STATA software (version. 16.1, StataCorp). Results: 27 articles and abstracts published between 2011 and 2020 were included in the review, resulting in 2 randomized clinical trials (104 participants), 14 single arm prospective trials (214 participants), and 11 retrospective studies (120 patients). Among clinical trials, the pooled ORR and DCR were 18% (95% confidence interval [CI] 8 - 30%; I2 = 72.25%; p < 0.01) and 87% (95% CI 97 - 93%; I2 = 43.2%; p = 0.03) respectively. Conclusions: The response rate to targeted therapy in metastatic ASPS is not only clinically meaningful, but also comparable to that of first-line chemotherapy. The majority of patients receiving targeted therapy achieved disease control. Patients who had refractory or progressive disease to one targeted agent demonstrated response to other agents. More randomized trials are warranted to expand treatment options and compare to standard of care regimens.
Palliative care as a predictor of healthcare resource use at end-of-life in adult Albertan lung cancer decedents between 2008-2015: A secondary data analysis.
Authors: Sumar Nureen , Earp Madalene , Hao Desiree , Sinnarajah Aynharan 
Published: June 2021

e24009 Background: Early utilization of specialist palliative care (SPC) in cancer patients may reduce healthcare resource use, aggressive interventions, and costs at end-of-life. We evaluated the impact of SPC on healthcare resource utilization and aggressive interventions at end-of-life in patients who have died from lung cancer. Methods: Descriptive and multivariable logistic regression analyses were conducted on lung cancer decedents in the Calgary Zone, Alberta Health Services from 2008 to 2015. The primary exposure was timing of SPC (Early: receipt of SPC > = 90 days before death; Late: < 90 days before death; No SPC). The primary outcome was end-of-life healthcare resource use (defined as any of: hospital death, > 1 emergency department visit, > 1 hospital admission, > 14 days of hospitalization, ≥1 intensive care unit admission, ≥1 new chemotherapy program (or any chemotherapy in the last 14 days of life) in the 30 days prior to death. Results: There were 3300 patients of which the majority (51.6%) of decedents were male. More female versus male lung cancer decedents (36.4% vs 28.7%) received early SPC. After adjusting for confounders, a strong association was found between early, late or no SPC and end-of-life healthcare resource use (ORno exposure 3.25 (95% CI 2.41-4.40) vs ORlate exposure 2.44 (95% CI 2.03-2.92) compared to those with early SPC; p < 0.001). Males had 1.53 the odds of aggressive care at end-of-life compared to females (p < 0.001). Stratified analysis by sex revealed a strong association between the absence of SPC utilization and end-of-life healthcare resource use. Young age ( < 50 at death) was a strong driver of aggressive care at end-of-life in females versus males [OR 5.44 vs 2.53]. Conclusions: Early specialist palliative care was significantly associated with less end-of-life healthcare resource use in both male and female lung cancer decedents, with less early specialist palliative care use in males. Keywords: palliative care, early palliative care, cancer, end-of-life, healthcare resource use, lung cancer.
Tobacco use, knowledge of harms, and cessation support among patients with non-tobacco related cancers.
Authors: Vater Laura , Trikannad Ashwini Kumar Anup , Sehgal Neha , Khan Maria , Bullens Kelsey , Hudmon Karen S , Buckles Deborah , Liu Hao , Hanna Nasser H. , Kunapareddy Girish 
Published: June 2021

e24029 Background: Continued cigarette smoking among patients with cancer leads to numerous adverse health outcomes, even among patients with non-tobacco-related cancers such as breast, colon, and prostate cancer. Continued smoking is associated with poorer response to cancer treatment, increased risk for treatment-related toxicities, and shorter overall survival. While some patients with a smoking-related cancer make efforts to quit smoking at the time of diagnosis, patients with other forms of cancer might not understand the negative effects of continued smoking. In this study, we assessed patient knowledge of the harms of continued smoking, previous cessation attempts, and cessation support. Methods: We surveyed 102 adults with breast, colon, and prostate cancer at three locations: an NCI-designated cancer center, an urban safety-net medical center, and a rural cancer center. Patients were asked about current smoking behaviors, beliefs about the harms of continued smoking, quit attempts and resources used, and cessation support. We also surveyed seven oncologists to assess beliefs about harms of continued smoking, cessation support provided to patients, training and confidence in cessation counseling, and barriers to providing cessation support. Results: Most patients (82%) agreed or strongly agreed that continued smoking may shorten life expectancy, and 70% agreed or strongly agreed that continued smoking increased the risk of getting a different type of cancer. Only 41% of patients agreed or strongly agreed that continued smoking may cause more side effects from cancer treatment, and only 40% agreed or strongly agreed that ongoing smoking may affect treatment response. The majority of patients (86%) had tried to quit smoking for good, with an average 4.1 quit attempts per patient. Patients reported that physicians advised them to quit the majority of the time (92%), prescribed medication 33% of the time, and followed up on cessation attempts 43% of the time. Overall, oncologists had higher knowledge of the harms of continued smoking on treatment outcomes and survival. Those in practice for 20 years or more had higher confidence in cessation counseling than those in practice less than 4 years. Oncologists described lack of time and lack of confidence in cessation counseling as barriers to providing more cessation support. Conclusions: Among 102 patients with breast, colon, and prostate cancer who currently smoke, there was incomplete knowledge of the harms of continued smoking. Oncologists believe that tobacco cessation is important and frequently advise patients to quit, however they less frequently prescribe medication or follow up on cessation efforts. Interventions are needed to educate patients with cancer about the harms of continued smoking and to provide further cessation support.
A pilot study of individualized exercise prescription to improve physical activity in cancer survivors.
Authors: Pophali Priyanka Avinash , Durani Urshila , Shin John , Larson Melissa C. , Shultz Adam , Becker Julie , Bowman Melissa , Thompson Carrie A. , Cathcart-Rake Elizabeth Jane 
Published: June 2021

e24030 Background: Physical activity (PA) in cancer survivors improves quality of life (QOL), functioning, fatigue, and reduces the risk of treatment complications, cancer recurrence and death. However, the optimal intervention for increasing PA is not established. Most prospective studies have shown a 6-12-week program to be an effective intervention but this is often not feasible. Therefore, we piloted a one-time individualized exercise prescription in our cardiac rehabilitation center to improve PA in cancer survivors. Methods: We prospectively enrolled cancer survivors who had completed curative intent treatment, with no evidence of active disease in this pilot study. Survivors who consented underwent a consultation with an exercise physiologist for needs assessment followed by a supervised exercise session with a tailored exercise prescription. Survivors also filled out surveys assessing their PA and QOL at baseline (bl), 3, 6 and 12 months after intervention. Clinical information was collected via chart review. We estimated longitudinal PA score and change in PA using mixed models incorporating scores from all available time points using SAS (v 9.4). Results: Between May 2018 and January 2020, 50 participants (26 lymphoma and 24 solid tumor survivors) completed the intervention. 20% participants were on maintenance therapy during the study. Clinical characteristics of 42 evaluable participants are summarized in Table. The survey response rate was 82%, 58%, 58%, 46% at bl, 3, 6 and 12 months respectively. The level of PA improved with time [mean (SE) PA score: 58.5 (4.3) bl, 63.9 (4.8) at 3, 57.6 (4.8) at 6, 62.6 (5.3) at 12 months]. The change in PA from baseline to follow-up time-points [bl vs 3m p=0.41; bl vs 6m p=0.88; bl vs 12m p=0.55] or between the lymphoma and solid tumor survivors was not statistically significant and limited by sample size. No significant trend in QOL was seen. Conclusions: Individualized exercise prescription using the cardiac rehabilitation program may be a feasible, widely applicable tool to implement a PA intervention among cancer survivors. The trend towards improvement in PA in this novel one-time intervention provides intriguing evidence and deserves future study in larger sample sizes to understand if it can improve and create sustainable PA change comparable to longer term exercise interventions.[Table: see text]
An analysis of characteristics and content of highly used books for the general population in the cancer space on Amazon.com.
Authors: O'Keefe Ryan M , Keaveny Caitlin E. , Vesey Alicia M. , Jordan Mackenzie R. , Hamilton Grace A. , Letendre Nicole B. , Santiago Simonai E. , Hill-Kayser Christine E. 
Published: June 2021

e24034 Background: Cancer patients and supporters frequently turn to written resources for assistance and empowerment in decision-making. Previous work has analyzed misinformation available on search and social media platforms; however, little attention has been paid to amazon.com (AMZ) despite 37% of cancer patients seeking information from books. Previous work also suggests there is a preponderance of vaccine-hesitant books on AMZ. Here, we report the first analysis of the characteristics and content of books, excluding medical textbooks, in the cancer space. Methods: On 11/25/20, the top 100 books were pulled from the “Best Sellers in Cancer” (BS) page on AMZ. Queries were also performed using keywords “cancer treatment” (CT), and “natural cancer treatment” (NCT), filtering for books. Non-sponsored results from the first 5 pages per search were pulled. 2 coders were trained to manually collect variables on genre, advice, terminology (TN) in the description, author, and publisher; disagreement was settled by a third coder. Books were excluded if they were not in English, duplicates within the same query, did not focus on human cancer, or were medical textbooks. Chi square testing was used to compare results of CT v. NCT. Analysis was performed using R software. Results: 56, 60, and 70 books were included for BS, CT, and NCT, respectively. For BS, 15 (26.8%) were memoirs, 12 (21.4%) dietary guides, 11 (19.6%) treatment guides, 6 (10.7%) self-help, and 4 (7.1%) cookbooks. 16 (28.6%) focused on one tumor subtype; breast was the most common (9, 56.3%). Many appeared to offer non data-driven advice (Table). Many BS books employed “war” TN (ex: fight, battle), “hype” TN (ex: game-changing), spiritual TN (ex: faith, God, prayer), and CAM TN (ex: supplement, herb) (Table). Many also insinuated offering a cure, or a novel therapy (Table). Compared with CT books, NCT books were more likely to offer non-data driven advice and be published independently, and less likely to have an MD/DO author (Table). Conclusions: Nonscientific advice is present in many non-medical text cancer books available on AMZ, including BS books. Patients seeking information on AMZ about NCT are likely to find books offering non-data driven advice or that insinuate a cure or new/novel information. Future work should investigate opportunities to regulate such content or to direct patients towards high-quality resources on platforms like AMZ.[Table: see text]
Patient-reported barriers to online meetings: The case of a myeloma support group in western Kenya in the era of COVID-19.
Authors: Oduor Mercy , Manyega Kelvin , Lotodo Therese , Okuku Austin , Namaemba Diana , Oyolo Lorraine , Oguda John , Vik Terry A. 
Published: June 2021

e24036 Background: Multiple myeloma is a chronic progressive disease that calls for extended survivorship support post-diagnosis. Pre- COVID-19, the AMPATH Multiple Myeloma Program had created support groups for myeloma survivors and their caregivers that regularly met for health education, emotional support, and social opportunities. With the enforcement COVID-19 prevention and control protocols physical support group meetings became impossible. The program shifted to the online platform to sustain peer to peer support for myeloma patients and caregivers. We aim to describe challenges faced with online patient support group meetings as this has not been well documented in a resource-constrained setting. Methods: Myeloma patients and caregivers at Moi Teaching and Referral Hospital were contacted and a meeting date and time agreed. Participants were briefed on how to download and operate the zoom application in preparation for online meetings. A meeting link was shared with the expected attendees and a reminder sent two days before a meeting. Support group meetings were held for different groups among them myeloma survivors and caregivers. The meeting sessions were led by healthcare professionals – hematology consultants, social workers, nutritionist and psychosocial counsellors. Peer-to-peer sessions were also held. Results: Six online meeting sessions were held between June 2020 and December 2020. A total of 199 participants were expected to join the six different meetings but a low meeting turn-out of 25.6% was experienced. Participants were later contacted to unravel the reasons for a low turn-out. A total of 129 participants were contacted of which 88 responded. Out of the 88 respondents, 29% reported a tight work schedule, 25% short time meeting alerts, 20% did not have access to smartphones, and 8% had poor internet connectivity and another 8% reported no internet data bundles to connect to the internet. Conclusions: Low attendance of online meetings was observed. Participants cited scheduling and internet access as major obstacles to attending online support group meetings. Improved access to the internet through smartphones, reliable internet connection, and affordable data are needed in underserved communities to fully unlock the benefits of virtual platforms namely cost savings and effective information sharing.
Assessment of chemotherapy-induced cognitive impairment: A prospective study of the biochemical and metabolic effects of platinum/taxane-based chemotherapy in gynecologic cancer patients.
Authors: Hutchcraft Megan Leigh Gleason , Anderson-Mooney Amelia J , Dressler Emily Van Meter , Butterfield D. Allan , St. Clair Daret , Powell David K. , Koehl Lisa , Schmitt Frederick A. , Shelton Brent , Gorski Justin W. , Baldwin Lauren Ashley , DeSimone Christopher Philip , Gallion Holly H. , Ueland Fredrick R. , Miller Rachel W. 
Published: June 2021

e24051 Background: Chemotherapy-induced cognitive impairment (CICI) is a common side effect of cancer therapy, affecting up to 75% of cancer patients. Oxidative stress is thought to play a key role in CICI and patients who have been treated with chemotherapy have demonstrated biochemical brain changes on magnetic resonance spectroscopy (MRS). Methods: Following institutional review board approval, chemotherapy-naïve gynecologic cancer patients scheduled to receive intravenous platinum/taxane-based chemotherapy were identified. The primary objective of this study was identification of chemotherapy-induced cognitive function changes using the Montreal Cognitive Assessment (MoCA) tool. This exploratory analysis evaluates correlations between changes in MoCA scores, oxidative analytes TNF-a, protein carbonyls (PC), and 4-hydroxynonenal (HNE) protein adducts, and MRS metabolic signals. Testing was performed at baseline and three weeks post-treatment. Simple linear regression was performed to evaluate the correlation between changes in MoCA scores and oxidative metabolites. Results: Fourteen patients were enrolled. Six patients had complete pre/post oxidative stress data, and four patients had complete pre/post MRS data. Five of six had decreased PC values (mean net change -15.17%, SD 0.15), half had increased HNE levels (mean net change +16.38%, SD 0.38), and four of six had decreased TNF-a values (mean net change -15.10%, SD 0.27) (Table). MoCA scores were positively correlated with serum PC levels ( r = 0.86, p = 0.03) and not significantly correlated with TNF-a or HNE levels. Of those with complete pre/post MRS data, all patients had a decrease in glycerophosphocholine + phosphocholine/creatinine ratio signals. MoCA raw score prior to and after completion of chemotherapy. A higher score indicates improved test performance. Positive percentage of oxidative stress markers (PC, HNE, TNF-a) indicates increased post-therapy levels compared to pre-therapy. Conclusions: In this study, we evaluated candidate oxidative stress serum markers and changes in MRS metabolite signals for CICI. Serum PC levels correlate with cognitive screening scores. For patients undergoing brain imaging, MRS evaluation for individual choline components, glycerophosphocholine and phosphocholine, may serve as an additional marker of oxidative damage. This pilot study highlights the potential value of serum PC levels and dedicated brain imaging for signs of oxidative stress, including MRS, to guide future CICI identification studies. Clinical trial information: NCT03324945. [Table: see text]