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  • 1
    In: Blood Cancer Discovery, American Association for Cancer Research (AACR), Vol. 3, No. 2 ( 2022-03-01), p. 154-169
    Abstract: Extranodal natural killer/T-cell lymphoma (ENKTL) is an aggressive, rare lymphoma of natural killer (NK) cell origin with poor clinical outcomes. Here we used phenotypic and molecular profiling, including epigenetic analyses, to investigate how ENKTL ontogeny relates to normal NK-cell development. We demonstrate that neoplastic NK cells are stably, but reversibly, arrested at earlier stages of NK-cell maturation. Genes downregulated in the most epigenetic immature tumors were associated with polycomb silencing along with genomic gain and overexpression of EZH2. ENKTL cells exhibited genome-wide DNA hypermethylation. Tumor-specific DNA methylation gains were associated with polycomb-marked regions, involving extensive gene silencing and loss of transcription factor binding. To investigate therapeutic targeting, we treated novel patient-derived xenograft (PDX) models of ENKTL with the DNA hypomethylating agent, 5-azacytidine. Treatment led to reexpression of NK-cell developmental genes, phenotypic NK-cell differentiation, and prolongation of survival. These studies lay the foundation for epigenetic-directed therapy in ENKTL. Significance: Through epigenetic and transcriptomic analyses of ENKTL, a rare, aggressive malignancy, along with normal NK-cell developmental intermediates, we identified that extreme DNA hypermethylation targets genes required for NK-cell development. Disrupting this epigenetic blockade in novel PDX models led to ENKTL differentiation and improved survival. This article is highlighted in the In This Issue feature, p. 85
    Type of Medium: Online Resource
    ISSN: 2643-3230 , 2643-3249
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2022
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  • 2
    In: Clinical Cancer Research, American Association for Cancer Research (AACR), Vol. 29, No. 1 ( 2023-01-04), p. 244-260
    Abstract: The liver is the most frequent metastatic site for colorectal cancer. Its microenvironment is modified to provide a niche that is conducive for colorectal cancer cell growth. This study focused on characterizing the cellular changes in the metastatic colorectal cancer (mCRC) liver tumor microenvironment (TME). Experimental Design: We analyzed a series of microsatellite stable (MSS) mCRCs to the liver, paired normal liver tissue, and peripheral blood mononuclear cells using single-cell RNA sequencing (scRNA-seq). We validated our findings using multiplexed spatial imaging and bulk gene expression with cell deconvolution. Results: We identified TME-specific SPP1-expressing macrophages with altered metabolism features, foam cell characteristics, and increased activity in extracellular matrix (ECM) organization. SPP1+ macrophages and fibroblasts expressed complementary ligand–receptor pairs with the potential to mutually influence their gene-expression programs. TME lacked dysfunctional CD8 T cells and contained regulatory T cells, indicative of immunosuppression. Spatial imaging validated these cell states in the TME. Moreover, TME macrophages and fibroblasts had close spatial proximity, which is a requirement for intercellular communication and networking. In an independent cohort of mCRCs in the liver, we confirmed the presence of SPP1+ macrophages and fibroblasts using gene-expression data. An increased proportion of TME fibroblasts was associated with the worst prognosis in these patients. Conclusions: We demonstrated that mCRC in the liver is characterized by transcriptional alterations of macrophages in the TME. Intercellular networking between macrophages and fibroblasts supports colorectal cancer growth in the immunosuppressed metastatic niche in the liver. These features can be used to target immune-checkpoint–resistant MSS tumors.
    Type of Medium: Online Resource
    ISSN: 1078-0432 , 1557-3265
    RVK:
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2023
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  • 3
    In: Cancer Research, American Association for Cancer Research (AACR), Vol. 81, No. 13_Supplement ( 2021-07-01), p. 552-552
    Abstract: Introduction: Epithelial ovarian, fallopian tube, and peritoneal cancer (EOC) is the most lethal gynecologic malignancy with a 5-year survival rate of 47%. While primary treatment generally results in remission, most patients relapse within 3 years. CA-125 is a commonly used biomarker for recurrence detection, however, it lacks specificity and is not associated with improved survival. Here we examine the utility of circulating tumor DNA (ctDNA) as a biomarker for EOC by assessing its relationship to patient outcome and CA-125 when measured pre-surgically and during patient monitoring. Methods: This study included patients diagnosed with stage I-IV EOC with plasma samples collected pre-surgically (n=44) and a group of patients (n=22) with serially collected samples after surgery. Median follow-up for patients with pre-surgical samples and with prospectively collected samples was 29 months (range: 6-150) and 15 months (range: 0.6-26), respectively. Whole exome sequencing was performed on patient tumors and matched normal tissue to design patient-specific ctDNA assays (bespoke mPCR NGS assay) for variant detection in plasma samples. The relationship between ctDNA status, CA-125 levels, and recurrence-free survival (RFS) were evaluated (Fisher's exact, log-rank test). Results: Among patients with presurgical plasma samples high-grade serous was the most common histological subtype 66% (29/44). Endometrioid represented 11% (5/44) of tumors and 23% (10/44) were tumors of other epithelial subtypes. In this cohort 75% (33/44) had early-stage disease, 7% (3/44) were metastatic and 18% (8/44) had the unstaged disease. The presence of ctDNA was observed in 73% of samples at baseline with detection rates of 69% (20/29) for serous and 80% (4/5) for endometrioid histologies. Pre-surgical ctDNA detection was significantly associated with a higher grade (p=0.003). All patients with ctDNA negative status at baseline (n=12) survived until the end of follow-up (median: 25 months), while 3 deaths were observed among ctDNA positive patients (n=32; p=0.003). In the sub-cohort of patients with prospective post-surgical plasma collection, ctDNA was observed in samples of all patients who relapsed (7/7; 100% sensitivity). ctDNA detection preceded radiological findings by a median of 9 months (range: 2-36). None of the patients with ctDNA negative status within 6 months after enrollment experienced disease progression (13/13; 100% specificity). The presence of ctDNA was observed to be a strong predictor of relapse (HR: 12.75, 95%CI: 1.7-94 p & lt;0.0001), while CA-125 was not significantly associated with RFS (HR: 1.3, 95%CI: 0.3-6.3; p=0.09). Conclusions: The presence of ctDNA post-surgically is highly prognostic of decreased RFS and was found to be a stronger predictor of disease progression than CA-125 monitoring. These results suggest that monitoring ctDNA could be a useful tool in clinical decision making for patients with EOC. Citation Format: Jocelyn S. Chapman, William E. Pierson, Karen Smith-McCune, Geovanni Pineda, Reena M. Vattakalam, Alexandra Ross, Meredith A. Mills, Carlos J. Suarez, Tracy Davis, Robert P. Edwards, Michelle Boisen, James M. Ford, June Y. Hou, Hsin-Ta Wu, Scott Dashner, Ekaterina Kalashnikova, Angel Rodriguez, Bernhard Zimmermann, Sarah Sawyer, Himanshu Sethi, Alexey Aleshin. Circulating tumor DNA predicts disease recurrence in ovarian cancer patients [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr 552.
    Type of Medium: Online Resource
    ISSN: 0008-5472 , 1538-7445
    RVK:
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    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2021
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  • 4
    In: Clinical Cancer Research, American Association for Cancer Research (AACR), Vol. 18, No. 10 ( 2012-05-15), p. 2828-2837
    Abstract: Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL. Design: We sequenced MAX in 1,694 patients with PCC or PGL (without mutations in other major susceptibility genes) from 17 independent referral centers. We screened for large deletions/duplications in 1,535 patients using a multiplex PCR-based method. Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was assessed overall and by clinical characteristics. Results: Sixteen MAX pathogenic mutations were identified in 23 index patients. All had adrenal tumors, including 13 bilateral or multiple PCCs within the same gland (P & lt; 0.001), 15.8% developed additional tumors at thoracoabdominal sites, and 37% had familial antecedents. Age at diagnosis was lower (P = 0.001) in MAX mutation carriers compared with nonmutated cases. Two patients (10.5%) developed metastatic disease. A mutation affecting MAX was found in five tumors, four of them confirmed as somatic (1.65%). MAX tumors were characterized by substantial increases in normetanephrine, associated with normal or minor increases in metanephrine. Conclusions: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients. Clin Cancer Res; 18(10); 2828–37. ©2012 AACR.
    Type of Medium: Online Resource
    ISSN: 1078-0432 , 1557-3265
    RVK:
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2012
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  • 5
    Online Resource
    Online Resource
    American Association for Cancer Research (AACR) ; 2023
    In:  Cancer Epidemiology, Biomarkers & Prevention Vol. 32, No. 12_Supplement ( 2023-12-01), p. B023-B023
    In: Cancer Epidemiology, Biomarkers & Prevention, American Association for Cancer Research (AACR), Vol. 32, No. 12_Supplement ( 2023-12-01), p. B023-B023
    Abstract: Background: Monoclonal Gammopathy of Undetermined Significance (MGUS) is a pre-malignant condition that may progress to multiple myeloma (MM). The aim of this study was to investigate the effect of previous MGUS diagnosis on MM survival. Methods: Data from the Puerto Rico Central Cancer Registry-Health Insurance Linkage Database were analyzed. The study included incident cases of MM diagnosed between 2010 and 2016. Patients with a previous MGUS diagnosis were identified through a claims-based algorithm. Competing-risk modeling was used to estimate the impact of previous MGUS on MM survival, adjusting for sex, age, comorbidity index, and insurance. The results were stratified by sociodemographic characteristics. Results: Of the 1,205 patients diagnosed with MM, 9.7% (n=117) had a previous diagnosis of MGUS. Patients with a previous MGUS diagnosis were found to be older, with a higher comorbidity index, and had Medicare compared to those without a previous MGUS diagnosis. Additionally, these patients were less likely to die from MM (SHR: 0.48, 95%CI=0.33-0.71) than those without a previous MGUS diagnosis. The magnitude of the association between MGUS and MM mortality varied by sociodemographic characteristics. For example, patients between 40-69 years with a previous MGUS diagnosis were less likely to die from MM (SHR:0.23, 95%CI=0.09-0.60) than those without MGUS. Patients with MGUS and ≤1 comorbidity index were also less likely to die from MM (SHR:0.31, 95%CI=0.18-0.55) than those without MGUS with the same comorbidity index. Males with MGUS were less likely to die from MM (SHR:0.41, 95%CI=0.22-0.73), but the association was weaker among females. Patients with MGUS and Medicare were less likely to die from MM (SHR:0.43, 95%CI=0.25-0.74) than those without MGUS who also had Medicare. No significant association was found between MGUS and MM mortality among patients with other insurance types, other age groups, and other comorbidities index. Conclusion: Findings show that males, younger adults, and those with low comorbidity may benefit from a prior MGUS diagnosis, indicating that patients with a previous MGUS diagnosis may have improved survival due to earlier access to more effective treatments for MM. Further research is necessary to gain a comprehensive understanding of the underlying mechanisms. Citation Format: Maira Castañeda-Avila, Tonatiuh Suárez-Ramos, Carlos R. Torres-Cintrón, Axel Gierbolini-Bermúdez, Karen J. Ortiz-Ortiz. Monoclonal gammopathy of undetermined significance and multiple myeloma survival among Hispanics living in Puerto Rico [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orland o, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr B023.
    Type of Medium: Online Resource
    ISSN: 1538-7755
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2023
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  • 6
    Online Resource
    Online Resource
    American Association for Cancer Research (AACR) ; 2023
    In:  Cancer Epidemiology, Biomarkers & Prevention Vol. 32, No. 12_Supplement ( 2023-12-01), p. C016-C016
    In: Cancer Epidemiology, Biomarkers & Prevention, American Association for Cancer Research (AACR), Vol. 32, No. 12_Supplement ( 2023-12-01), p. C016-C016
    Abstract: Background: In recent years, Puerto Rico (PR) has faced unprecedented events, disrupting the health system. In September 2017, a Category 5 Hurricane Maria hit PR just two weeks after Hurricane Irma, resulting in severe damage to healthcare facilities and infrastructure. Subsequently, in March 2020, the COVID-19 pandemic emerged, further interrupting healthcare services. Cancer patients handled numerous challenges during and after these major events. Also, the patterns of cancer in PR reflect underlying risk factors, disparities in healthcare access, and overall infrastructure limitations. Despite being highly preventable, colorectal cancer (CRC) remains one of the most incident and deadliest types of cancer in PR. This study aims to evaluate the impact of Hurricanes Irma and Maria, as well as the lockdown measures imposed during the COVID-19 pandemic on the incidence of CRC in PR. Methods: The source of information for this study was the Puerto Rico Central Cancer Registry (PRCCR) database. An interrupted time-series analysis (ITSA) design was used to compare monthly CRC diagnoses during the following four periods: 1) before the interruption of hurricanes Irma and Maria (January 2015 to August 2017), 2) during hurricanes and post hurricanes recovery (September 2017 to March 2018), 3) before the interruption of the COVID-19 pandemic (April 2018 to March 2020), and 4) during the pandemic restrictions (April 2020 to December 2020). We used ordinary least squares regression models with Newey-West standard errors to adjust for autocorrelation., In addition, The Cumby-Huizinga general test was used to assess for possible autocorrelation. Results: CRC monthly percent change (MPC) remained steady during the first period (95% CI= -0.006, 0.005, p-value=0.730). In the interruption of the hurricanes (September 2017), there appeared to be a significant decrease of 52.29% CRC cases (95% CI= -0.690, -0.356, p-value & lt;0.001), followed by a significant increase in the second period of a MPC of 10.71. Regarding the third period, the MPC declined by 11.38 (95% CI= -0.164, -0.064, p-value & lt;0.001). In the interruption of the COVID-19 pandemic (April 2020), a decrease of 34.94% cases was observed (95% CI= -0.891, 0.193, p-value=0.202), followed by an increase in the MPC of 6.37 during the fourth period. Conclusion: This study provides a first time description of the impact of two major interruptions in the PR health system infrastructure, specifically on CRC diagnoses. Our analyses confirm a change in level and trend caused by the hurricane's aftermath and the COVID-19 restrictions. More research is needed to better understand the potential factors associated with the decrease of the CRC MPC after post-hurricane recovery (third period), such as migration and changes in health system capacity. Citation Format: Samantha Verganza, Carlos R. Torres-Cintrón, Axel Gierbolini-Bermúdez, Tonatiuh Suárez-Ramos, Guillermo Tortolero-Luna, Karen J. Ortiz-Ortiz. Evaluating the impact of major events on colorectal cancer incidence in Puerto Rico: An interrupted time-series analysis [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr C016.
    Type of Medium: Online Resource
    ISSN: 1538-7755
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2023
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  • 7
    In: Cancer Epidemiology, Biomarkers & Prevention, American Association for Cancer Research (AACR), Vol. 32, No. 1_Supplement ( 2023-01-01), p. C125-C125
    Abstract: Background: Multiple myeloma (MM) is an incurable malignancy of plasma cells. Overall 5-year survival rate has increased in recent years due to new treatments. However, this improvement has not been equal across sociodemographic groups. Older adults, males, and non-Hispanic Blacks (NHB) are at higher risk of developing and dying from MM. Therefore, this study investigated the intersectionality among age, sex, and race/ethnicity to better understand the patterning of MM incidence, mortality, and survival. These groups are usually considered separately, which may mask the inequities experienced among them. Methods: The sources of information for this study were the Puerto Rico (PR) Central Cancer Registry database and the US Surveillance, Epidemiology, and End Results (SEER) Program database. We analyzed incidence and mortality trends of MM from 2001 to 2019 using joinpoint regression models to calculate Annual Percent Change (APC). Age-standardized rate ratios (SRR) for MM incidence and mortality were used to compare PR with US racial/ethnic groups from 2015 to 2019. The SRRs were stratified by two age groups ( & lt;65, ≥65) and sex. Furthermore, 5-year survival analyses of MM were performed. Results: Regardless of age and race/ethnicity, males have higher incidence and mortality rates of MM than females. In terms of trends, PR had a higher increase in MM incidence rates than other racial/ethnic groups, regardless of sex and age (PR annual percent change [APC] = 4.3 among males & lt;65, 3.1 among males ≥65, 6.3 among females & lt;65, and 2.6 among females ≥65 years old). No significant change in mortality APCs (p & gt;0.05) was observed in PR during the study period when stratified by age or sex. Across categories of age and sex, NHB had higher MM incidence and mortality rates than the other racial/ethnic groups. Nevertheless, when comparing males & lt;65 years, PR has significantly higher incidence rates than non-Hispanic Whites (NHW) and US Hispanics (USH). However, PR has significantly lower mortality rates than NHW, NHB, and USH in the ≥65 age group. In terms of survival, PR showed the lowest observed 5-year survival rate among males & lt;65 years (54.6%, 95% CI: 47.2-61.5) and males ≥65 years (33.8%, 95% CI: 28.5-39.1). Among females, USH showed the lowest observed 5-year survival for the age group & lt;65 years (59.4%, 95% CI: 55.2-63.4) and NHW showed the lowest observed 5-year survival for the age group ≥65 years (37.0%, 95% CI: 35.4-38.6). In most categories, the highest observed 5-year survival rates were similar between two or more racial/ethnic groups. Conclusion: The incidence of MM increased in every racial/ethnic group over the study period, with PR having the highest APCs in all categories. Despite the introduction of new therapies, the mortality rates in PR have remained stable while the other racial/ethnic groups show significant decreases across categories of sex and age. These results highlight the need for more research in MM to better understand these disparities. Citation Format: Carlos R. Torres-Cintrón, Tonatiuh Suárez-Ramos, Maira A. Castañeda-Avila, Mara M. Epstein, Guillermo Tortolero-Luna, Karen J. Ortiz-Ortiz. Multiple myeloma incidence, mortality and survival differences at the intersection of sex, age, and race/ethnicity in the United States and Puerto Rico: 2015-2019 [abstract]. In: Proceedings of the 15th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2022 Sep 16-19; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr C125.
    Type of Medium: Online Resource
    ISSN: 1538-7755
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2023
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  • 8
    In: Cancer Research, American Association for Cancer Research (AACR), Vol. 69, No. 8 ( 2009-04-15), p. 3650-3656
    Abstract: Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes (SDHx). Mutation analysis for all 3 costs ∼US$2,700 per patient. Genetic classification is essential for downstream management of the patient and preemptive management of family members. Utilizing HNP as a model, we wanted to determine predictors to prioritize the most heritable clinical presentations and which gene to begin testing in HNP presentations, to reduce costs of genetic screening. Patients were tested for SDHB, SDHC, and SDHD intragenic mutations and large deletions. Clinical parameters were analyzed as potential predictors for finding germline mutations. Cost reduction was calculated between prioritized gene testing compared with that for all genes. Of 598 patients, 30.6% had SDHx germline mutations: 34.4% in SDHB, 14.2% SDHC, and 51.4% SDHD. Predictors for an SDHx mutation are family history [odds ratio (OR), 37.9], previous pheochromocytoma (OR, 10.9), multiple HNP (OR, 10.6), age ≤40 years (OR, 4.0), and male gender (OR, 3.5). By screening only preselected cases and a stepwise approach, 60% cost reduction can be achieved, with 91.8% sensitivity and 94.5% negative predictive value. Our data give evidence that clinical parameters can predict for mutation and help prioritize gene testing to reduce costs in HNP. Such strategy is cost-saving in the practice of genetics-based personalized health care. [Cancer Res 2009;69(8):3650–6]
    Type of Medium: Online Resource
    ISSN: 0008-5472 , 1538-7445
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    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2009
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  • 9
    Online Resource
    Online Resource
    American Association for Cancer Research (AACR) ; 2018
    In:  Cancer Epidemiology, Biomarkers & Prevention Vol. 27, No. 7_Supplement ( 2018-07-01), p. A38-A38
    In: Cancer Epidemiology, Biomarkers & Prevention, American Association for Cancer Research (AACR), Vol. 27, No. 7_Supplement ( 2018-07-01), p. A38-A38
    Abstract: Background: Studies in Latinas have reported a high prevalence of ER/PR/HER2-negative (TNBC) and HER2-enriched breast tumors. In our ongoing study of breast cancer molecular characteristics of Colombian women (N=301), more than 20% of the tumors were classified as TNBC. Molecular analyses of this aggressive subtype of breast cancer in women of European ancestry have revealed additional molecular heterogeneity, which is associated with treatment response and survival. The goal of the present study was to explore the molecular profile of TNBC in a sample of Latin American women from Colombia and assess if genetic ancestry modified the gene expression profile. Methods: We performed whole-transcriptome RNA-seq analysis in 48 TNBC tumors that were classified into intrinsic subtypes by immunohistochemistry (IHC) following St. Gallen 2015 surrogates. Genetic ancestry was estimated from a panel of 80 ancestry-informative markers (AIM). We categorized patients with TNBC according to the median of Indigenous ancestry (low Indigenous ancestry group: ancestry proportion below the median; high Indigenous ancestry: ancestry proportion above the median). We used top differentially expressed genes from Lehmann et al. (2011) (n=128) to explore the distribution of TNBC subtypes in our samples and to explore differences in the expression of these genes according to genetic ancestry. Results: Unsupervised hierarchical clustering analysis did not show any clear clustering of the Colombian samples into defined subtypes based on expression of the 128 top differentially expressed genes reported by Lehmann et al. Subsequently, we selected genes that clustered together according to the definitions of TNBC subtypes of Lehmann, leaving a total of 35 genes for the analysis. Unsupervised hierarchical clustering using this list of genes identified two clusters, one predominantly observed for woman of high Indigenous American ancestry (average Indigenous American ancestry for this group was 45%) and another more common in women of low Indigenous ancestry (average Indigenous American ancestry for this group was 36%, p=0.04). The cluster that included most of the women with high Indigenous ancestry proportions was characterized by lower gene expression for the 35 genes compared to the cluster that included women with low Indigenous ancestry proportions. Conclusions: Our results suggest differential expression of genes within TNBC breast cancer subtype according to genetic ancestry; nevertheless, we could not identify clear TNBC subtypes previously defined by Lehmann et al. in our study. Further analyses are needed to identify TNBC subtypes in Hispanic/Latina samples. Citation Format: Silvia J. Serrano-Gomez, Maria Carolina Sanabria-Salas, Jone Garai, Melody C. Baddoo, Gustavo Hernandez-Suarez, Juan Carlos Mejia, Oscar Garcia, Lucio Miele, Laura Fejerman, Jovanny Zabaleta. Identification of triple-negative breast cancer subtypes in Colombian patients [abstract]. In: Proceedings of the Tenth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2017 Sep 25-28; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2018;27(7 Suppl):Abstract nr A38.
    Type of Medium: Online Resource
    ISSN: 1055-9965 , 1538-7755
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2018
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  • 10
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    Online Resource
    American Association for Cancer Research (AACR) ; 2023
    In:  Cancer Epidemiology, Biomarkers & Prevention Vol. 32, No. 12_Supplement ( 2023-12-01), p. C032-C032
    In: Cancer Epidemiology, Biomarkers & Prevention, American Association for Cancer Research (AACR), Vol. 32, No. 12_Supplement ( 2023-12-01), p. C032-C032
    Abstract: Background: Myelodysplastic syndromes (MDS) are a group of rare blood cancers with a wide range of clinical outcomes and a highly variable prognosis. Usually, most population-based registries do not collect cancer-related biological and genetic markers, which limits the use of population-based registries to address critical research questions. We leveraged the Puerto Rico (PR) Central Cancer Registry (PRCCR) to collect this data and analyze clinical characteristics and outcomes of patients diagnosed with MDS in PR. Methods: The study population includes patients diagnosed with MDS in PR between 2015 and 2019. Descriptive statistics and frequency analysis were used to describe the variables of interest. Logistic regression models were used to examine factors associated with the use of genetic marker tests. Bivariate analyses were performed to evaluate association between treatment patterns and patients’ characteristics. Three-year survival curves were estimated using Kaplan-Meier (with log-rank test to assess differences between survival curves). Multivariable Cox regression models were used to estimate the magnitude of association between the risk of dying among patients with MDS and different genetic markers/clinical characteristics. Results: The study cohort consisted of 475 patients. Between 67.2% and 81.7% of cases reported information of laboratory tests and prognostic markers. The abnormal karyotype had the highest presence in patients with MDS among those that reported the test with 47.4%. After adjusting for variables of interest, the risk of dying in MDS patients who did not have a del(5q) or a mutation of TP53, EZH2, or NRAS was 53%-85% lower than the risk of dying in patients who had either one of the mutations (p & lt;0.05). Almost half of the MDS patients (47.4%) received treatment and of those, almost a third (29.3%) received it within the first 30 days after the diagnosis of MDS. The most common first-course treatment was azacitidine (52.0%), followed by lenalidomide (20.0%). Patients with a very low IPSS-R had a 3-year survival of 72.8% and those with a very high IPSS-R had a 3-year survival of 7.8%. Conclusion: The data from the PRCCR confirm the prognostic value of the IPSS-R and the role of the cytogenetic and molecular abnormalities on the patient’s outcomes. Citation Format: Karen J. Ortiz-Ortiz, Tonatiuh Suárez Ramos, Maira A. Castañeda-Avila, Carlos R. Torres-Cintrón, Axel Gierbolini-Bermúdez, Guillermo Tortolero-Luna. Patterns of care and patients’ outcomes for myelodysplastic syndromes in Puerto Rico: A real-world data analysis [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr C032.
    Type of Medium: Online Resource
    ISSN: 1538-7755
    Language: English
    Publisher: American Association for Cancer Research (AACR)
    Publication Date: 2023
    detail.hit.zdb_id: 2036781-8
    detail.hit.zdb_id: 1153420-5
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