bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genomic characterization of papillary thyroid carcinoma in Chinese Shandong population.
Authors: Li Xungeng , Du Licheng , Li Jiyu , Zheng Luming , Zhang Jun , Sun Yongjie , Qi Ming , Shang Xingchen , Yang Shunchao , Xing Jialiang , Wang Meng , Han Ke , Liu Chuang , Li Ling 
Published: June 2023

e18085 Background: With the emergence of mutation-based diagnosis and therapies for patients with papillary thyroid carcinoma (PTC), molecular profiling has become an important component of care. Although next-generation sequencing (NGS) gene panels are accessible to clinicians, the key genetic alterations of PTC in Chinese Shandong population were rarely descripted. Methods: A total of 127 papillary thyroid carcinoma patients were enrolled in this cohort, including 49 (38.6%) males and 78 (61.4%) females from January 2020 to May 2022. The median age were all 48 years. Formalin-fixed, paraffin-embedded (FFPE) tumor tissues were all collected and analyzed from these patients. Somatic and germline mutations were identified including 38 genes associated with tumor development. Sequencing data were analyzed to call tumor specific single nucleotide variants (SNV), small insertions and deletions (InDels), copy number alterations (CNA), gene fusions and rearrangements. Results: A total of 117 out of 127 papillary thyroid carcinoma were NGS-positive (92.1%), with a high prevalence of BRAF V600E mutations (52.0%, 66/127) and MLH1 mutations (23.6%, 30/127), and a low prevalence of RAS mutations (10.2%, 13/127)， ROS1 (9.4%, 12/127). Overall, 257 somatic mutations including 249 SNVs (6 splicing, 4 stopgain, 4 frameshift，and 235 nonsynonymous), 3 fusions, 3 deletions, and 1 insertions in 38 genes were identified in the PTC samples. Gene fusions, involving the RET and NTRK1 genes, were identified in three PTCs (2.4%), including NTRK1-TPM3, NTRK1-SQSTM1 and CCDC6-RET. And the three fusions patients were all BRAF V600E-negative cases. Furthermore, in our cohort, BRAF V600E mutation carriers also owned other actionable, the most frequent one was MLH1 (34.8%), followed by RET (15.2%), ROS1 (10.6%), and ATM (10.6%). We also found that three PTC patients carried germline variants of uncertain significance, including ATM (p.L857P), MET (p.L211W) and RET (p.C515R), which are heterozygous mutations. Conclusions: We described the distinct molecular profile in the Chinese Shandong population with PTC. Most patients had at least one potentially actionable mutation, predominantly driven by BRAF V600E and MLH1 alterations. These findings may help in moving toward the more comprehensive and effective personalized treatment of papillary thyroid carcinoma in Chinese.
Mixed medullary-follicular carcinoma: A national analysis and the demographic features.
Authors: Tade Yanick , Keirns Darby , Hsia Beau , Silberstein Peter T. , Wu Xinxin 
Published: June 2023

e18090 Background: Mixed medullary-follicular carcinoma (MMFC) is a rare malignant type of cancer that affects the thyroid. Unlike other thyroid cancers, MMFC is distinct by its solid-nonfollicular pattern which includes both follicular and C-cell elements. Nearly 70% of patients present with distant metastasis to the lungs, bone, brain and/or liver with a median survival time of 75 months, plus or minus 51 months. Because MMFC is a rare cancer, analyzing the trend in diagnoses can provide important information about its epidemiology. The National Cancer Database (NCDB) was analyzed to determine how patient demographic characteristics affected diagnosis of MMFC. Methods: A retrospective cohort study from 2004 to 2020 was conducted using the NCDB. 153 patients were found with a histologically confirmed diagnosis of MMFC (ICD-8346-3). Gender, race, Hispanic origin, level of education, insurance coverage, type of treatment facility, and distance from facility were analyzed via descriptive statistics and trends in incidence were interpreted using regression analysis. Results: The frequency of patients diagnosed with MMFC has remained consistent since 2004 (R2 = 0.1) with over 10 diagnoses per year. Of the 153 patients found, the average age of diagnosis was 59.05 years (SD = 14.36, range = 18 – 90 years). Approximately two-thirds of patients were female (62.7%) and the remainder were male (37.3%). Most of the patients were Non-Hispanic White (86.3%) compared to 7.2% of the patients which were of Spanish-hispanic origin. More patients were in the top income quartile (37.3%) than those in the second (18.3%), third (21.6%), or fourth (11.1%) quartiles. The other 11.8% were of unknown income status. The majority of patients were privately insured (52.9%), followed by coverage under Medicare/Medicaid (43.1%). More patients lived in metropolitan counties with a population of 250,000 or more (88.2%) compared to urban or rural areas (11.8%). A large percentage of patients were treated at an academic or comprehensive community cancer program (72.6%) compared to non-academic programs (27.4%). Patients traveled an average of 33.9 miles (SD = 93.90, Range = 0.5 – 806.8) to get to the treatment facility. Conclusions: MMFC remains a rare diagnosis. This study explores a significant gap in existing knowledge on patient characteristics that might present with MMFC. The majority of patients were White, non-Hispanic, insured by private insurance, lived in metropolitan areas, and in the top quartile of income earners. This novel study of socioeconomic factors in MMFC patients suggest that patients diagnosed with this uncommon cancer might have better access to diagnosis. Previous literature on MMFC suggested a predilection for males, but our findings serve as contrary evidence for such preference. As such, additional research to comprehend the role that sex and socioeconomic status might have on MMFC would be valuable.
Comprehensive genomic analysis of salivary gland carcinomas in a Chinese population.
Authors: Lu Hao , Zhang Xi , Liu Shengwen , Xu Wanlin , Zhu Yun , Wu Yifan , Qin Xingjun , Ren Guoxin , Hao Qing , Zhang Liwen , Guo Lijie , Yang Wenjun 
Published: June 2023

e18094 Background: Salivary gland carcinomas (SGCs) represent a heterogeneous group of poorly characterized head and neck tumors, which are rare and challenging to treat. A strategy based on molecular screening and targeted therapy seems to be the best approach for treating patients with SGCs in the future, whereas the genomic mechanisms of SGCs are largely unclear. Methods: A total of 49 patients with histologically confirmed SGCs, including mucoepidermoid carcinoma (MEC, n = 10), adenoid cystic carcinoma (ACC, n = 20), carcinoma ex pleomorphic adenoma (cxPA, n = 10) and other pathological types (n = 9) were enrolled in our study. Tumor tissue specimens were collected and targeted next-generation sequencing for 450 cancer-related genes was performed in OrigiMed (Shanghai, China), a College of American Pathologists (CAP) accredited and Clinical Laboratory Improvement Amendments (CLIA) certified laboratory. Results: In all samples, the most frequently mutated genes were MYB (26.53%), TP53 (26.53%), ERBB2 (12.24%), KMT2D (12.24%), and TERT (12.24%). Actionable genes included ERBB2 (12.2%), PIK3CA (8.2%), ATM (4.1%), CDKN2A/B (4.1%), and EGFR (4.1%). Among these patients, female patients accounted for a higher proportion in ACC compared to that in MEC and cxPA (ACC: 65%, MEC: 30%, cxPA: 30%). Gene fusions/rearrangements were identified in 13 tumors, and 10 (76.9%) had evidence of MYB-NFIB fusion, which may represent an important new therapeutic target for ACC. Higher frequency of MYB (p < 0.0001) and EP300 (p = 0.0445) mutations was also identified in ACC compared with that in other types. Mutational frequencies of TP53 (p = 0.0096) and ERBB2 (p = 0.0228) were obviously higher in cxPA, whereas the frequency of CCNE1 (p = 0.0433) mutations were significantly higher in MEC compared with those in other types. The gene mutations of Chinese SGCs were mainly enriched in RTK/RAS (56.7%), TP53 (40.8%), Notch (34.5%), and PI3K (30.5%) signaling pathways. Conclusions: This report revealed the molecular characteristics of Chinese SGC patients diagnosed with different pathological types, which would be helpful for the investigation of the underlying genomic mechanisms of SGC. Our result highlights the potential role of gene alterations, many of which could conceivably be actionable with targeted therapies.
Retrospective analysis of NUT carcinoma: The Northwestern experience.
Authors: Serritella Anthony V. , Obeidin Farres , Boumber Yanis , Patel Jyoti D. , Li Haimin , Yi Rui , Lorch Jochen H. 
Published: June 2023

e18096 Background: NUT carcinoma (NC) is a rare, highly aggressive carcinoma that originates from a wide variety of organs, typically presenting as poorly differentiated squamous cell carcinoma. Cases typically are aggressive, with a median overall survival (OS) of only 6.5 months. Given only 40-50 cases are diagnosed in the United States annually, NC is an orphan disease with no standard treatment options and the outlook is generally poor. A previously published case of thyroid NUT carcinoma demonstrated a prolonged response to pembrolizumab for > 3 years. Methods: Patients (pts) harboring NUTM1 rearrangements were retrospectively identified at our institution. We reviewed characteristics related to tumor immune microenvironments by tumor immunohistochemistry and next generation sequencing as well as clinical outcomes. Results: 10 NMC pts were identified (5 female, 5 male): lung (6), thyroid (2), primary mediastinal (1), maxillary sinus (1). The median age at diagnosis was 49 years (range of 27-75). The thyroid cases were diagnosed at ages 51 and 75. 8/10 had metastatic or unresectable disease at diagnosis, 3 of which with central nervous system metastases. In 8 evaluable patients, NUTM1 rearrangements included BRD2 (1), BRD3 (1), BRD4 (2), NSD3 (3), SCL12A6 (1). Median OS was 10.8 months (range 1.1-75.8m); 3/10 patients were deceased. 3 patients received IO (2 ipilimumab/nivolumab, 1 pembrolizumab) after either surgery, RT, or chemotherapy combined with RT. Patients who received IO had a median survival of 18 months (range 10.9-76.0 months) compared with 8.5 months in the 8 patients not receiving IO (p = 0.07). All patients with tissue available in this cohort all had PD-L1 staining < 5%, were microsatellite stable (MSS) and had a low median tumor mutation burden (TMB) of 3.1 mut/Mb. Conclusions: In our series, NC originating from the thyroid gland accounted for more cases than expected, thyroid NC patients were older than NC cases arising in other locations and with the more typical squamous histology. Despite relatively low PD-L1 staining, TMB, and MS status, our data suggests NMC tumors may be amenable to treatment with immune checkpoint inhibitors, warranting further investigation.
Overall survival trends of papillary thyroid cancer: A Surveillance, Epidemiology, and End Results (SEER) population-based data (2002-2016).
Authors: Balozian Patil , Al Armashi Abdul Rahman , Boustany Antoine , Palaparty Poornanand 
Published: June 2023

e18108 Background: In the United States, the 5-year survival rate for patients with thyroid cancer is 98%. However, survival rates are mainly influenced by the type of thyroid cancer and the stage of the disease. The tremendous research in the area and the need to assess outcomes of recently implemented treatments necessitate the evaluation of the epidemiology and overall survival rates of the most common type of this malignancy, papillary thyroid cancer (PTC). Although the cause-specific survival (CSS) of Papillary Thyroid Cancer (PTC) patients has been extensively investigated, the overall survival (OS) of these patients is unclear. In this study, we aim to conduct an evaluation of survival trends after PTC diagnosis by stage of disease for the years 2002 through 2016 in the United States. Methods: We used the SEER 9 database to study PTC cases during 2002-2016. The patient survival data for the three disease stages (local, regional, and distal) were compared for the two time periods of interest, (2002-2008) and (2009-2016). The data for each cohort were split into six groups, (those whose deaths were in each of the five one-year intervals and those surviving the five-year follow-up period). These categorical counts were compared by the chi-square test of contingency table data. Statistical significance was taken as a p-value less than 0.05. Results: We reviewed 73,333 PTC cases in the United States from 2002 through 2016. There was an overall survival improvement with the exception of the distal stage, which did not demonstrate any statistical difference in the 2-time frames of interest. For local sites, there was a highly significant difference between the survival distributions of patients in the two time periods of interest (p = 0.0095; chi-square test statistic = 15.20 with 5 degrees of freedom). For regional sites, there was a highly significant difference between the survival distributions of patients in the two time periods of interest (p = 0.0077; chi-square test statistic = 15.72 with 5 degrees of freedom). For the distant stage, there was no significant difference between the survival distributions of patients in the two time periods of interest (p = 0.28; chi-square test statistic = 6.25 with 5 degrees of freedom). Conclusions: PTC’s survival rates have shown an improvement over the years 2002 through 2016, mostly noted in the local and regional stages. Although most patients with PTC have a favorable prognosis when conventional treatments are implemented, local recurrence and distant metastasis of advanced PTCs still hamper the survival and clinical management in certain patients.
A comparison of thyroid cancer survival managed with different surgical subtypes: A SEER database analysis.
Authors: Cogua Laura , Silberstein Peter T. , Tupper Connor 
Published: June 2023

e18110 Background: Thyroid cancer is a common endocrine malignancy that has been shown to be treatable with surgical intervention. Multiple surgical approaches can be used to treat thyroid cancer ranging from minimally-invasive local destruction or partial lobectomy to total thyroidectomy. There are limited studies comparing the survival between different surgical subtypes used to treat thyroid cancer at a national registry level; we herein investigate the differences between surgical subtypes in the management of thyroid cancer. Methods: We queried the Surveillance, Epidemiology, and End Results (SEER) Database for patients with thyroid cancer (primary site code C739) diagnosed between 2000-2019. All histologic subtypes were included. Patients with multiple primary tumors and patients without surgical intervention were excluded. Variables selected for review included age at diagnosis, race, sex, stage, and surgery subtype. Surgical subtypes of interest included codes 20-50 which corresponds to the removal of less than a lobe NOS, local surgical excision, partial lobectomy, lobectomy only, isthmectomy only, lobectomy with isthmectomy, removal of a lobe and partial removal of the contralateral lobe, subtotal or near-total thyroidectomy, and total thyroidectomy. Descriptive statistics, Kaplan-Meier (KM), and Cox regression analyses were performed using SPSS version 28. Results: A total of 167932 patients were included. Of these, 1564 patients received local/partial lobectomy. On KM, partial lobectomy showed significantly improved survival compared to both local excision and removal of less than a lobe, NOS (p’s < 0.05). For lobectomies and isthmectomies, a total of 24904 patients were included. On KM, both lobectomy alone and lobectomy with isthmectomy showed survived significantly improved than isthmectomy alone (p’s < 0.001). A total of 141464 patients received either subtotal thyroidectomies or total thyroidectomies, 95% of which were total thyroidectomies. On KM, patients managed with total thyroidectomy survived significantly better than subtotal thyroidectomy (p < 0.001). After controlling for age, sex, race, and stage, Cox regression analysis showed complete lobectomy (Hazard ratio [HR] = 0.352), subtotal thyroidectomy (HR = 0.416), and total thyroidectomy (HR = 0.162) all had significantly improved survival relative to local excision or destruction (p’s < 0.001). Conclusions: Our results show that more complete removal of the thyroid, including complete lobectomy, subtotal thyroidectomy, and total thyroidectomy, is associated with improved survival in patients with thyroid cancers. The improved outcomes with more invasive procedures suggest wider margins may reduce the risk of spread or recurrence after initial resection.
Association between social determinants of health and outcomes among young patients with prostate cancer.
Authors: Akinyemi Oluwasegun , Weldeslase Terhas , Abodunrin Faith , Adeoye Oluwatayo , Silberstein Peter T. , Metwalli Adam 
Published: June 2023

e18500 Background: Influence of Social Determinants of Health (SDHs) on Outcomes among Young Patients with Prostate Cancer. SDHs significantly influence prostate cancer patients' incidence, presentation, and outcomes. However, how these factors affect outcomes in younger patients with prostate cancer has been understudied in the literature. Prostate cancer is the commonest cancer among men in the US, and studying these factors will further enhance efforts to develop appropriate public health strategies to combat the disease. Aim: To determine the influence of patients' race and SDHs on outcomes among young patients with prostate cancer. Methods: Utilizing data from the National Cancer Database (NCDB), we conducted a retrospective analysis of all patients with a primary diagnosis of prostate cancer from January 2004 to December 2018. The outcome measures were diagnosis to definitive treatment time (days), length of hospitalization (days), and overall survival. We determined the influence of patients’ race/ethnicity, insurance type, residence annual median income (median household income for each patient's area of residence), and residence education level (defined as the proportion of adults ≥25 years who did not complete high school in the patients' zip code) on the overall survival among young patients with prostate cancer. Results: There were 843,511 cases of prostate malignancy reported in the National Cancer Database between 2004 and 2018. About 6.3% of these patients were younger than 50 years (N=52,890). Among the younger patients, 74.0% were whites, and 21.3% were Blacks. These compare to the control of adults older than 50 years, with 84.3% whites and only 11.3% Blacks. On multivariate analysis, Black patients have a longer diagnosis to definitive treatment time and overall longer hospital stay but no racial disparity in overall survival. Significant predictors of overall survival among the young prostate cancer survivors were patients with private insurance and higher income quintiles (see table). Conclusions: Insurance and income rather than race/ethnicity or education level appear to constitute a significant predictor of survival among young prostate cancer patients in the United States.[Table: see text]
Navigator utilization rates in breast cancer patients by race in a comprehensive cancer center.
Authors: Onyewadume Louisa , Burnette Ursula , Cheatham Chesley , McClelland Shearwood 
Published: June 2023

e18501 Background: African-Americans have the highest overall cancer death rate and shortest survival time of any racial or ethnic group in the United States. Elucidation of disparities in cancer care access is important since previous work has indicated that when equal access to Radiation Therapy (RT) in prospective randomized trials is granted, race does not independently affect outcomes. The most common cancer studied in African-American radiation therapy (RT) access disparities research is breast cancer. Furthermore, prospective analyses have demonstrated that African-Americans receive hypofractionation following breast-conserving surgery less frequently than Caucasians. As such, the goal of this study is to eventually evaluate the impact of patient navigation on short-course RT access for African-American breast cancer patients. Methods: Our study is a prospective survey-based evaluation of the impact of patient navigation on access to hypo-fractionated RT and financial toxicity in African-American breast cancer patients. As the first step to investigating the impact of patient navigation on RT access in this population, medical records of women with breast cancer in our center (University Hospitals Cleveland Medical Center, Seidman Cancer Center) were identified from support groups. The baseline navigation rate for this population was determined from the initial data collected during tumor board sessions from June 2022 through October 2022. Results: We identified female patients who were diagnosed with breast cancer and thus were eligible for navigation. From June 1st through October 31st, 30 female patients were identified. Nine (30%) were Caucasian and 21 (70%) were African-American. Of the 21 African-American female patients, only four (19%) were connected with patient navigation services. Of the 9 Caucasian female patients, only four (44.4%) were connected with patient navigation services; this difference between African-American and Caucasian patients did not reach statistical significance. The total baseline navigation rate at our center during this period was 26.67% (8 out of 30 patients). Conclusions: Over a recent five-month period, it was determined that the baseline navigation rate for Caucasian female breast cancer patients is numerically more than 2x that of African-American female patients at our comprehensive cancer center. This information is an important precursor to the first investigation of the impact of patient navigation on reducing RT access disparities facing African-American breast cancer patients. We anticipate that after collating and analyzing survey results for patients pre-RT versus post-RT as well as for those with versus without patient navigation, navigation will serve to overcome barriers in compliance to therapy and increase adherence to optimal care.