scholarly journals COVID-19 Outcomes in Patients with Cancer: Findings from the University of California Health System Database

2021 ◽  
Author(s):  
Daniel H Kwon ◽  
Jose Eduardo Cadena Pico ◽  
Sam Nguyen ◽  
Kwan Ho Ryan Chan ◽  
Brian Soper ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Neoplasm ◽  
Composite Endpoint ◽  
University Of California ◽  
Cancer Type ◽  
Related Factors ◽  
Data Set ◽  
Patients With Cancer ◽  
Increased Risk ◽  
The University

Background: Patients with cancer are at risk for poor COVID-19 outcomes. We aimed to identify cancer-related risk factors for poor COVID-19 outcomes. Patients and Methods: We conducted a retrospective cohort study using the University of California Health COVID Research Data Set. This database includes prospectively-collected, electronic health data of patients who underwent testing for SARS-CoV-2 at seventeen California medical centers. We identified adult patients tested for SARS-CoV-2 between February 1, 2020 and December 31, 2020, and selected a cohort of patients with cancer using diagnostic codes. We obtained demographic, comorbidity, laboratory, cancer type, and antineoplastic therapy data. The primary outcome was hospitalization within 30 days after first positive SARS-CoV-2 test. Secondary outcomes were SARS-CoV-2 positivity and composite endpoint for severe COVID-19 (intensive care, mechanical ventilation, or death within 30 days after first positive test). We used multivariable logistic regression to identify cancer-related factors associated with outcomes. Results: We identified 409,462 patients undergoing SARS-CoV-2 testing. Of 49,918 patients with cancer, 1,781 (3.6%) tested positive. Patients with cancer were less likely to test positive (OR 0.69, 95%CI 0.66-0.73, P<0.001). BCR-ABL-negative myeloproliferative neoplasms (polycythemia vera, essential thrombocythemia, and primary myelofibrosis) (OR 2.51, 95%CI 1.29-4.89, P=0.007); venetoclax (OR 3.63, 95%CI 1.02-12.92, P=0.046); methotrexate (OR 3.65, 95%CI 1.17-11.37, P=0.026); Asian race (OR 1.92, 95%CI 1.23-2.98, P=0.004); and Hispanic/Latino ethnicity (OR 1.96, 95%CI 1.41-2.73, P<0.001) were associated with increased hospitalization risk. Among 388 hospitalized patients with cancer and COVID-19, cancer type and therapy type were not associated with severe COVID-19. Conclusions: In this large, diverse cohort of Californians, cancer was not a risk factor for SARS-CoV-2 positivity. Patients with BCR/ABL-negative myeloproliferative neoplasm and patients receiving methotrexate or venetoclax may be at an increased risk of hospitalization following SARS-CoV-2 infection. Further mechanistic and comparative studies are needed to explain and confirm our findings.

Abstract 14: The Influence of Provider Specialty on Anticoagulation Prescription Fills and Stroke Risk in Atrial Fibrillation Patients With History of Cancer

2018 ◽  
Vol 11 (suppl_1) ◽  
Author(s):  
Wesley T O’Neal ◽  
J’Neka Claxton ◽  
Richard MacLehose ◽  
Lin Chen ◽  
Lindsay G Bengtson ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Oral Anticoagulant ◽  
Cox Regression ◽  
Prior History ◽  
Cancer Type ◽  
Patients With Cancer ◽  
Increased Risk ◽  
History Of ◽  
Reduced Risk ◽  
History Of Cancer

Background: Early cardiology involvement within 90 days of atrial fibrillation (AF) diagnosis is associated with greater likelihood of oral anticoagulant use and a reduced risk of stroke. Due to variation in cardiovascular care for patients with cancer, it is possible that a similar association does not exist for AF patients with cancer. Methods: We examined the association of early cardiology involvement with oral anticoagulation use among non-valvular AF patients with history of cancer (past or active), using data from 388,045 patients (mean age=68±15 years; 59% male) from the MarketScan database (2009-2014). ICD-9 codes in any position were used to identify cancer diagnosis prior to AF diagnosis. Provider specialty and filled anticoagulant prescriptions 3 months prior to and 6 months after AF diagnosis were obtained. Poisson regression models were used to compute the probability of an oral anticoagulant prescription fill and Cox regression was used to estimate the risk of stroke and major bleeding. Results: A total of 64,016 (17%) AF patients had a prior history of cancer. Cardiology involvement was less likely to occur among patients with history of cancer than those without (relative risk=0.92, 95% confidence interval (0.91, 0.93)). Similar differences were observed for cancers of the colon (0.90 (0.88, 0.92)), lung (0.76 (0.74, 0.78)), pancreas (0.74 (0.69, 0.80)), and hematologic system (0.88 (0.87, 0.90)), while no differences were observed for breast or prostate cancers. Patients with cancer were less likely to fill prescriptions for anticoagulants (0.89 (0.88, 0.90)) than those without cancer, and similar results were observed for cancers of the colon, lung, prostate, pancreas, and hematologic system. However, patients with cancer were more likely to fill prescriptions for anticoagulants (1.48 (1.45, 1.52)) if seen by a cardiology provider, regardless of cancer type. A reduced risk of stroke (hazard ratio=0.89 (0.81, 0.99)) was observed among all cancer patients who were seen by a cardiology provider than among those who were not, without an increased risk of bleeding (1.04 (0.95, 1.13)). Conclusion: AF patients with cancer were less likely to see a cardiologist, and less likely to fill an anticoagulant prescription than AF patients without cancer. However, cardiology involvement was associated with increased anticoagulant prescription fills and reduced risk of stroke, suggesting a beneficial role for cardiology providers to improve outcomes in AF patients with history of cancer.

Attention to diet, exercise, and weight in the oncology clinic: Results of a national patient survey.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10549-10549
Author(s):  
Jennifer A. Ligibel ◽  
Lori J. Pierce ◽  
Catherine M. Bender ◽  
Tracy E Crane ◽  
Christina Marie Dieli-Conwright ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Online Survey ◽  
Early Stage ◽  
Cancer Type ◽  
Breast Cancer Patients ◽  
Related Factors ◽  
Increased Risk ◽  
Diet And Exercise ◽  
To Receive

10549 Background: Obesity and related factors are increasingly associated with increased risk of developing and dying from cancer. The American Society of Clinical Oncology (ASCO) conducted a survey of cancer patients to assess their experience in receiving recommendations and referrals related to weight, diet and exercise as a part of their cancer care. Methods: An online survey was distributed to potential participants between March and June 2020 via ASCO channels and patient advocacy organizations, with an estimated reach of over 25,000 individuals. Eligibility criteria included being 18 years, living in the US, and having been diagnosed with cancer. Logistic regression was used to determine factors associated with recommendation and referral patterns. Results: In total, 2419 individuals responded to the survey. Most respondents were female (75.5%), 61.8% had an early-stage malignancy, 38.2% had advanced disease, and 49.0% were currently receiving treatment. Breast cancer was the most common cancer type (36.0%). Average BMI was 25.8 kg/m2. The majority of respondents consumed £2 servings of fruits and vegetables per day (50.9%) and exercised £2 times per week (50.4%). Exercise was addressed at most or some oncology visits in 57.5% of respondents, diet in 50.7%, and weight in 28.4%. Referrals were less common: 14.9% of respondents were referred to an exercise program, 25.6% to a dietitian and 4.5% to a weight management program. In multiple regression analyses, racial and ethnicity minority respondents were more likely to receive advice about diet (Odds Ratio [OR] 1.92, 95% CI 1.56-2.38) and weight (OR 1.64, 95% CI 1.23-2.17) compared to non-Hispanic whites, individuals diagnosed with cancer in the past 5 yrs (vs > 5 yrs) were more likely to receive advice about exercise (OR 1.48, 95% CI 1.23-1.79), and breast cancer patients were more likely to receive advice about exercise (OR 1.37, 95% CI 1.11-1.68) and weight (OR 1.46, 95% CI 1.03-2.07) than other cancer patients. Overall, 74% of survey respondents had changed their diet or exercise after cancer diagnosis. Respondents reporting that their oncologist spoke to them about increasing exercise or eating healthier foods were more likely to report a change in behavior than those whose oncologists did not (exercise: 79.6% vs 69.0%, P < 0.001; diet 81.1% vs 71.4%, P < 0.001). Respondents whose oncologist had spoken to them about exercise were more likely to exercise > 2 times per week compared to respondents whose oncologists did not address exercise (53.5% vs 44.1%, P < 0.001). Conclusions: In a national survey of oncology patients, slightly more than half of respondents reported attention to diet and exercise during oncology visits. Provider recommendations for diet and exercise were associated with positive changes in these behaviors. Additional attention to diet and exercise as part of oncology visits is needed to help support healthy lifestyle change in cancer patients.

scholarly journals How I treat cancer-associated venous thromboembolism

Blood ◽  
2019 ◽  
Vol 133 (4) ◽  
pp. 291-298 ◽  
Author(s):  
Noémie Kraaijpoel ◽  
Marc Carrier
Keyword(s):  
Venous Thromboembolism ◽  
Cancer Staging ◽  
Cancer Type ◽  
Related Factors ◽  
Vein Thrombosis ◽  
Patients With Cancer ◽  
Treatment Response Evaluation ◽  
Related Risk ◽  
Deep Vein ◽  
Underlying Risk

Abstract Venous thromboembolism (VTE), which includes deep vein thrombosis and pulmonary embolism, is a common complication of cancer and is associated with significant morbidity and mortality. Several cancer-related risk factors contribute to the development of VTE including cancer type and stage, chemotherapy, surgery, and patient-related factors such as advanced age and immobilization. Patients with cancer frequently undergo diagnostic imaging scans for cancer staging and treatment response evaluation, which is increasing the underlying risk of VTE detection. The management of cancer-associated VTE is challenging. Over the years, important advances have been made and, recently, randomized controlled trials have been published helping clinicians’ management of this patient population. In this review, we will discuss common cancer-associated VTE scenarios and critically review available evidence to guide treatment decisions.

scholarly journals Body Mass Index and Total Symptom Burden in Myeloproliferative Neoplasms Discovery of a U-shaped Association

Cancers ◽  
2020 ◽  
Vol 12 (8) ◽  
pp. 2202 ◽  
Author(s):  
Sarah Friis Christensen ◽  
Robyn Marie Scherber ◽  
Nana Brochmann ◽  
Martin Goros ◽  
Jonathan Gelfond ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Myeloproliferative Neoplasms ◽  
Philadelphia Chromosome ◽  
Myeloproliferative Neoplasm ◽  
Symptom Burden ◽  
Normal Weight ◽  
Analysis Of Covariance ◽  
Cross Sectional ◽  
Increased Risk

Elevated body mass index (BMI) is a global health problem, leading to enhanced mortality and the increased risk of several cancers including essential thrombocythemia (ET), a subtype of the Philadelphia-chromosome negative myeloproliferative neoplasms (MPN). Furthermore, evidence states that BMI is associated with the severity of symptom burden among cancer patients. MPN patients often suffer from severe symptom burden. The purpose of this study was to examine whether deviations from a normal BMI in an MPN population are associated with higher symptom burden and reduced quality of life (QoL). A combined analysis of two large cross-sectional surveys, the Danish Population-based Study, MPNhealthSurvey (n = 2044), and the international Fatigue Study (n = 1070), was performed. Symptoms and QoL were assessed using the validated Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF). Analysis of covariance was used to estimate the effects of different BMI categories on symptom scores while adjusting for age, sex, and MPN subtype. A U-shaped association between BMI and Total Symptom Burden was observed in both datasets with significantly higher mean scores for underweight and obese patients relative to normal weight (mean difference: underweight 5.51 (25.8%), p = 0.006; obese 5.70 (26.6%) p < 0.001). This is an important finding, as BMI is a potentially modifiable factor in the care of MPN patients.

Multiclass Contour-Preserving Classification with Support Vector Machine (SVM)

2017 ◽  
Vol 26 (2) ◽  
pp. 323-334 ◽  
Author(s):  
Piyabute Fuangkhon
Keyword(s):  
Support Vector Machine ◽  
Classification Accuracy ◽  
University Of California ◽  
Support Vector ◽  
Data Sets ◽  
Feed Forward Neural Network ◽  
Real World Data ◽  
Data Set ◽  
The University ◽  
Training Sets

AbstractMulticlass contour-preserving classification (MCOV) has been used to preserve the contour of the data set and improve the classification accuracy of a feed-forward neural network. It synthesizes two types of new instances, called fundamental multiclass outpost vector (FMCOV) and additional multiclass outpost vector (AMCOV), in the middle of the decision boundary between consecutive classes of data. This paper presents a comparison on the generalization of an inclusion of FMCOVs, AMCOVs, and both MCOVs on the final training sets with support vector machine (SVM). The experiments were carried out using MATLAB R2015a and LIBSVM v3.20 on seven types of the final training sets generated from each of the synthetic and real-world data sets from the University of California Irvine machine learning repository and the ELENA project. The experimental results confirm that an inclusion of FMCOVs on the final training sets having raw data can improve the SVM classification accuracy significantly.

scholarly journals Impact of Comorbidities on Length of Stay and Mortality in Hospitalized Patients with Cancer and Febrile Neutropenia

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2601-2601 ◽  
Author(s):  
Eva Culakova ◽  
Marek S. Poniewierski ◽  
Jeffrey Crawford ◽  
David C. Dale ◽  
Gary H. Lyman
Keyword(s):  
Length Of Stay ◽  
Hospital Mortality ◽  
Research Funding ◽  
Infectious Complications ◽  
Hospitalized Patients ◽  
Cancer Type ◽  
Patients With Cancer ◽  
Time Period ◽  
Increased Risk ◽  
The Impact

Background: Hematologic toxicities are common side effects of cancer chemotherapy. Despite advances in supportive care, febrile neutropenia (FN) continues to represent a serious adverse event often requiring hospitalization and is associated with an increased risk of mortality. The purpose of this analysis was to investigate the impact of comorbidities and infectious complications on in-patient length of stay (LOS) and mortality in hospitalized patients with cancer and neutropenia over the past decade. Methods: Hospitalization data from the University Health Consortium database inclusive of the years 2004-2012 from 239 US medical centers were analyzed. Cancer type, presence of neutropenia, comorbidities, and infection type were based on ICD-9-CM codes recorded during hospitalization. This analysis includes adult patients with malignant disease and neutropenia. Patients undergoing bone marrow or stem cell transplantation were excluded. For patients with multiple hospitalizations, the first admission during the time period studied was utilized. Primary study outcomes included hospital length of stay (LOS≥10 days) and in-hospital mortality. Multivariate logistic regression analysis was utilized to study the impact of major comorbidities on the primary outcomes. Major comorbidities under consideration included heart, liver, lung, renal, cerebrovascular, peripheral-vascular disease, diabetes and venous thromboembolism. Results: Among 135,309 patients with cancer hospitalized with neutropenic events, one-third were age 65 years or older and 51% were male. Approximately one-quarter (24.5%) of patients experienced more than one admission with FN. The mean (median) length of stay increased progressively from 11.1 (6) days in 2004 to 12.8 (7) days in 2012. Patients with leukemia, lymphoma and central nervous system (CNS) malignancies experienced the longest mean LOS (21.4, 10.5, 10.2 days, respectively). Overall, 50,846 (37.6%) had a LOS≥10 days and 10,261 (7.6%) patients died during the hospitalization with no difference seen over the time period of observation. (P=.30). Greater rates of mortality were observed in patients with lung (11.2%) or CNS (9.3%) malignancies, and leukemia (9.3%). Infectious complications were documented in 59.5% of patients and their presence was associated with greater LOS≥10 days (48.2% vs. 22.0%) and higher mortality (11.2% vs. 2.3%). Greater LOS≥10 days (51.6% vs. 37.1%) and increased mortality (9.8% vs. 7.5%) were also observed among obese patients with cancer. Likewise, patients with multiple comorbid conditions had more prolonged hospitalizations and a greater risk of in-hospital mortality. (Table) Abstract 2601. Table Solid tumors Lymphoma LeukemiaNo. of comorbiditiesNo. of patients% died% with LOS≥10 daysNo. of patients% died% with LOS≥10 daysNo. of patients% died% with LOS≥10 days017,8580.911.28,1890.617.010,3950.853.5118,1723.417.97,7512.626.611,3803.463.2214,2508.927.25,3868.141.08,6039.769.937,49918.038.42,86118.455.25,04022.877.742,70525.151.41,06033.670.52,00438.183.1≥ 560235.262.327839.980.657749.087.0All patients*61,0867.022.625,5256.632.237,9999.265.4 LOS – length of stay; * 10,699 patients with other type or multiple tumors not included in the table The trend toward longer LOS and greater mortality with increased number of comorbidities persisted in multivariate analyses after adjusting for cancer type, age, gender, ethnicity and type of infection (odds ratio (OR) per +1 comorbidity increase: [mortality: OR =1.89; 95% CI: 1.85-1.92; P<.0001], [LOS: OR=1.56; 95% CI: 1.54-1.58; P<.0001]). Conclusions: Major medical comorbidities are common among hospitalized patients with cancer and neutropenia. Importantly, such comorbidities are associated with prolonged hospitalization and increased risk of in-hospital mortality with significantly worse outcomes in patients with lymphoma or leukemia. Greater awareness of risk factors associated with poor prognosis in cancer patients hospitalized with neutropenic complications as well as validated risk tools to better identify low risk as well high risk patients may guide more personalized cancer care, potentially improving clinical outcomes and lowering the cost of care. Disclosures Crawford: Amgen: Consultancy. Dale:Amgen: Consultancy, Honoraria, Research Funding. Lyman:Amgen: Research Funding.

scholarly journals Environmental Factors, Lifestyle Risk Factors, and Host Characteristics Associated With Philadelphia Negative Myeloproliferative Neoplasm: A Systematic Review

2021 ◽  
Vol 28 ◽  
pp. 107327482110468
Author(s):  
Niloofar Allahverdi ◽  
Mohamed Yassin ◽  
Mohamed Ibrahim
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Myeloproliferative Neoplasms ◽  
Grey Literature ◽  
Myeloproliferative Neoplasm ◽  
Hazardous Substances ◽  
Hematopoietic Stem ◽  
Proinflammatory Mediators ◽  
Increased Risk ◽  
Host Characteristics

Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders characterized by the overproduction of mature myeloid cells and are often associated with an acquired genetic mutation of Janus Kinase2V617F. Various epidemiological studies have indicated associations between environmental factors, lifestyle factors, and host characteristics with developing MPNs. This review aims to collect and summarize the existing information on these risk factors and establish their association with pathogenesis MPNs. Medline, Embase, PubMed, and grey literature were systematically searched using key terms for MPNs, and epidemiological study designs, that is, cross-sectional studies, case-control, and cohort, that investigated the risk factors for MPNs published were identified. Out of the 4621 articles identified, 20 met the selection criteria and were included in this review. Heterogeneity, study reliability, and bias were assessed. A significant association was found between smoking and the development of MPNs. This relationship has been explained by the substantial increase in several proinflammatory mediators and systematic oxidative stress causing hyperstimulation of myeloid compartments leading to the development of MPNs. Obesity was modestly linked with an increased risk of MPNs. The underlying mechanisms have been linked to changes in endocrine, metabolic, and inflammatory systems. No strong association was found between exposure to hazardous substances, that is, benzene and MPNs, but further investigation on the effects of increased levels and duration of exposure on hematopoietic stem cells will be beneficial. Unique individual and host variations have been determined as a modifier of disease pathogenesis and phenotype variations. There is a higher incidence rate of females developing MPNs, specifically ET, than males with higher PV incidence. Therefore, gender contributes to the heterogeneity in myeloproliferative neoplasm. Studies identified as part of this review are very diverse. Thus, further in-depth assessment to explore the role of these etiological factors associated with MPNs is warranted.

scholarly journals Prostate Cancer-Associated Trousseau´S Syndrome Versus Asymptomatic Isolated Muscular Calf Vein Thrombosis as the Origin of Acute Submassive Pulmonary Embolism: A Case Report and Review of the Literature

2020 ◽  
pp. 1-6
Author(s):  
Antonis Tsamaloukas ◽  
Antonis Tsamaloukas ◽  
Aristoteles Giagounidis ◽  
Jan Roigas ◽  
Stefan Glück
Keyword(s):  
Prostate Cancer ◽  
Pulmonary Embolism ◽  
Case Report ◽  
Cancer Patients ◽  
Cancer Type ◽  
Factor Xii ◽  
Vein Thrombosis ◽  
Patients With Cancer ◽  
Increased Risk ◽  
Calf Vein

Venous thromboembolism (VTE) is a major cause of morbidity and mortality in cancer patients. Cancer patients have a four to sevenfold increased risk of VTE compared with non-cancer patients and approximately 20% -30% of all VTE occurs in patients with cancer. Incidence of VTE varies with cancer type and is the highest among patients with metastatic-stage disease. Assessing risk of VTE in the patients with cancer and risk stratification tools as the Khorana score may predict VTE. The highest risk is associated with cancers of the pancreas, stomach, brain, and lung and some hematologic malignancies, whereas lower risks are associated with breast and prostate cancer. The incidence rate ratio (IRR) for prostate cancer is 3.25(2,56 - 4,13) and for pancreas 15.56 (10.50-23.0). We give a case report with a quite perplexing undertaking, where a submassive acute pulmonary embolism (PE) originated from an asymptomatic calf vein thrombosis or intertwined with the Trousseau´s syndrome. Essential Section: One of the authors (A.T) was unexpected faced with the diagnosis of poorly differentiated prostate cancer. There were no signs of the disease, the PSA level was normal. As a retired medical oncologist, he had to care for many patients with prostate cancer and had now to cope with this cancer. To make the matter worse he suffered after the radical prostatectomy a submassive asymptomatic pulmonary embolism. Clinically there were no signs if a deep venous thrombosis. The coincidence of both events without clinical signs of a thrombosis could be caused by the Trousseau´s syndrome. Prostasomes extracellular vesicles synthesizes by prostate cancer cells and secreted into body fluids are prothrombotic by virtue of the expression of polyphosphate-activated coagulation factor XII.

scholarly journals Pregnancy in a Woman with Latent Myeloproliferative Neoplasm Induced Chronic Portal Vein Thrombosis, Portal Cavernoma, and Gastric Varices

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Andréanne Durivage ◽  
Geneviève Le Templier ◽  
Annabelle Cumyn ◽  
Nadine Sauvé
Keyword(s):  
Portal Hypertension ◽  
Portal Vein ◽  
Portal Vein Thrombosis ◽  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Neoplasm ◽  
Vascular Complications ◽  
Breech Presentation ◽  
Gastric Varices ◽  
Vein Thrombosis ◽  
Increased Risk

Extra-hepatic portal vein thrombosis (EHPVO) represents the obstruction of the portal vein outside the liver and is not related to chronic liver disease or neoplasia. In chronic EHPVO, collateral veins and portal hypertension develop, resulting in splenomegaly and variceal formation. Myeloproliferative neoplasms (MPN) are the most frequent acquired etiology of EHPVO. These conditions put pregnant women at increased risk of vascular complications, including venous thrombosis, occlusion of the placental circulation, and variceal bleeding. In this report, we present a 36-year-old pregnant woman with chronic, anticoagulated EHPVO secondary to latent MPN who developed severe intrauterine growth restriction and had cesarean section at 32+1 weeks for increased umbilical doppler resistance and breech presentation. The article will emphasize outcome and management of pregnancies complicated by chronic EHPVO, portal hypertension, and MPN.

Genomic analysis of myeloproliferative neoplasm (MPN) patients from a single institution in South Korea to reveal novel pathogenic mutations and perturbed pathways.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e19533-e19533
Author(s):  
Dilhan Weeraratne ◽  
Hu Huang ◽  
David Brotman ◽  
Shang Xue ◽  
Young Kyung Lee ◽  
...  
Keyword(s):  
Race And Ethnicity ◽  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Neoplasm ◽  
Genomic Analysis ◽  
Primary Myelofibrosis ◽  
Myelogenous Leukemia ◽  
Tp53 Mutations ◽  
South Korean ◽  
Pathogenic Mutations ◽  
Increased Risk

e19533 Background: Therapeutic, prognostic, and diagnostic insights gained from next generation sequencing (NGS) are a key premise of genomics-informed cancer care in hematological diseases. Particularly in BCR-ABL negative myeloproliferative neoplasms (MPN), insights gained from NGS is integral for risk stratification and prognostication. In this study, MPN patients of South Korean descent were sequenced, interpreted, and compared with a published validation cohort to identify variations in mutational profiles specific to demographics. Methods: 31 South Korean MPN patients including 12 essential thrombocythemia, 6 polycythemia vera, 6 primary myelofibrosis, and 7 chronic myelogenous leukemia were sequenced in 2018 and 2019 using the 54 gene Illumina TruSight Myeloid Panel at Hallym University College of Medicine. Orthogonal testing for CALR mutations was done by Sanger sequencing. Watson for Genomics (WfG), an artificial intelligence offering was used for variant interpretation and annotation. A cohort of 151 MPN patients previously published in the New England Journal of Medicine (NEJM) was used for comparison (PMID:24325359). Results: The table shows identified actionable mutations. Conclusions: Two novel pathogenic mutations in CALR (c.1162delG and c.1100_1145del)) were identified in Korean MPN patients. NOTCH1 pathogenic mutations were exclusive while TP53 mutations were significantly enriched in the Korean cohort suggesting that these pathways may play a role in MPN. TP53 mutations in MPN are clinically significant as they have been associated with increased risk for leukemic transformation. Of note, MPL mutations were not detected in the Korean cohort. In conclusion, race and ethnicity may contribute to some mutational signatures in cancer. [Table: see text]

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