10 results on '"Roman E Zyla"'
Search Results
2. Uterine Sarcoma With FGFR1-TACC1 Gene Fusion: A Case Report and Review of the Literature
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Roman E. Zyla, Emily A. Goebel, Ji-Hyun Jang, and Gulisa Turashvili
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Obstetrics and Gynecology ,Pathology and Forensic Medicine - Published
- 2021
3. Gene of the month: STK11
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Anjelica Hodgson, Roman E. Zyla, and Elan Hahn
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Gastrointestinal tract ,Kinase ,DNA damage ,Mucocutaneous zone ,STK11 ,Cancer research ,General Medicine ,Biology ,Gene ,Hedgehog signaling pathway ,Germline ,Pathology and Forensic Medicine - Abstract
STK11 encodes for the protein liver kinase B1, a serine/threonine kinase which is involved in a number of physiological processes including regulation of cellular metabolism, cell polarity and the DNA damage response. It acts as a tumour suppressor via multiple mechanisms, most classically through AMP-activated protein kinase-mediated inhibition of the mammalian target of rapamycin signalling pathway. Germline loss-of-function mutations in STK11 give rise to Peutz-Jeghers syndrome, which is associated with hamartomatous polyps of the gastrointestinal tract, mucocutaneous pigmentation and a substantially increased lifetime risk of many cancers. In the sporadic setting, STK11 mutations are commonly seen in a subset of adenocarcinomas of the lung in addition to a number of other tumours occurring at various sites. Mutations in STK11 have been associated with worse prognoses across a range of malignancies and may be a predictor of poor response to immunotherapy in a subset of lung cancers, though further studies are needed before the presence of STK11 mutations can be implemented as a routine clinical biomarker.
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- 2021
4. <scp>MLH1</scp> epimutation is a rare mechanism for Lynch syndrome: A case report and review of the literature
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Miralem Mrkonjic, Melyssa Aronson, Lea Velsher, Gulisa Turashvili, Tracy Graham, and Roman E. Zyla
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congenital, hereditary, and neonatal diseases and abnormalities ,Cancer Research ,Vulvar Squamous Cell Carcinoma ,Genetic counseling ,Biology ,MLH1 ,Germline ,Epigenesis, Genetic ,Sebaceous adenoma ,03 medical and health sciences ,0302 clinical medicine ,Germline mutation ,Genetics ,medicine ,Humans ,Promoter Regions, Genetic ,neoplasms ,Germ-Line Mutation ,Endometrial cancer ,nutritional and metabolic diseases ,DNA Methylation ,Middle Aged ,medicine.disease ,Colorectal Neoplasms, Hereditary Nonpolyposis ,digestive system diseases ,Lynch syndrome ,030220 oncology & carcinogenesis ,Cancer research ,Female ,MutL Protein Homolog 1 - Abstract
Endometrial carcinoma is one of the prototypical malignancies associated with Lynch syndrome, an inherited cancer syndrome most commonly caused by germline mutations in DNA mismatch repair (MMR) genes, although rare alternative mechanisms also exist. In this report, we describe a patient first diagnosed with colorectal cancer at age 33, then vulvar squamous cell carcinoma, facial sebaceous adenoma/sebaceoma, and finally endometrial carcinoma at age 52. All tumors were MLH1/PMS2-deficient by immunohistochemistry, and MLH1 promoter methylation was identified in the endometrial cancer. Germline MLH1 testing was negative for pathogenic variants, but she was subsequently diagnosed with Lynch syndrome secondary to a germline monoallelic constitutional epimutation of the MLH1 promoter. Identification of patients displaying a Lynch syndrome phenotype but lacking germline MMR mutations is important to avoid delays in the diagnosis of Lynch syndrome as well as the initiation of appropriate cancer screening and genetic counseling.
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- 2021
5. What Are the Burden, Causes, and Costs of Early Hospital Readmissions After Kidney Transplantation?
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Pei Xuan Chen, Yanhong Li, S. Joseph Kim, Johnny W. Huang, Magdalene Au, Esther Kim, Olusegun Famure, and Roman E Zyla
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medicine.medical_specialty ,030232 urology & nephrology ,kidney transplantation ,Aftercare ,030230 surgery ,Kidney transplant ,Patient Readmission ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Renal Dialysis ,Risk Factors ,medicine ,Humans ,Hospital Costs ,Kidney transplantation ,Retrospective Studies ,Transplantation ,Hospital readmission ,business.industry ,readmission ,Incidence (epidemiology) ,Research ,medicine.disease ,Patient Discharge ,Emergency medicine ,incidence ,business - Abstract
Introduction: Kidney transplant recipients are at risk for complications resulting in early hospital readmission. This study sought to determine the incidences, risk factors, causes, and financial costs of early readmissions. Design: This single-centre cohort study included 1461 kidney recipients from 1 Jul 2004 to 31 Dec 2012, with at least 1-year follow-up. Early readmission was defined as hospitalization within 30 or 90-days postdischarge from transplant admission. Associations between various parameters and 30 and 90-days posttransplant were determined using multivariable Cox proportional hazards models. The hospital-associated costs of were assessed. Results: The rates of early readmission were 19.4% at 30 days and 26.8% at 90 days posttransplant. Mean cost per 30-day readmission was 11 606 CAD. Infectious complications were the most common reasons and resulted in the greatest cost burden. Factors associated with 30 and 90-days in multivariable models were recipient history of chronic lung disease (hazard ratio or HR 1.78 [95%CI: 1.14, 2.76] and HR 1.68 [1.14, 2.48], respectively), median time on dialysis (HR 1.07 [95% CI: 1.01, 1.13]and HR 1.06 [95% CI: 1.01, 1.11], respectively), being transplanted preemptively (HR 1.75 [95% CI: 1.07, 2.88] and HR 1.66 [95% CI: 1.07, 2.57], respectively), and having a transplant hospitalization lasting of and more than 11 days (HR 1.52 [95% CI: 1.01, 2.27] and HR 1.65 [95% CI: 1.16, 2.34], respectively). Discussion: Early hospital readmission after transplantation was common and costly. Strategies to reduce the burden of early hospital readmissions are needed for all patients.
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- 2021
6. CTNNB1 Mutations and Aberrant β-Catenin Expression in Ovarian Endometrioid Carcinoma
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Yutaka Amemiya, Bojana Djordjevic, Carlos Parra-Herran, Dina Bassiouny, Arun Seth, Ekaterina Olkhov-Mitsel, Sharon Nofech-Mozes, and Roman E. Zyla
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Adult ,0301 basic medicine ,Oncology ,medicine.medical_specialty ,medicine.disease_cause ,Disease-Free Survival ,Pathology and Forensic Medicine ,Correlation ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Biomarkers, Tumor ,Carcinoma ,Humans ,Medicine ,Stage (cooking) ,beta Catenin ,Exome sequencing ,Aged ,Aged, 80 and over ,Ovarian Neoplasms ,Mutation ,business.industry ,Middle Aged ,Prognosis ,medicine.disease ,Treatment Outcome ,030104 developmental biology ,030220 oncology & carcinogenesis ,Catenin ,Cohort ,Immunohistochemistry ,Female ,Surgery ,Anatomy ,business ,Carcinoma, Endometrioid - Abstract
CTNNB1 mutations and aberrant β-catenin expression have adverse prognosis in endometrial endometrioid carcinoma, and recent evidence suggests a prognostic role of β-catenin in ovarian endometrioid carcinoma. Thus, we aimed to determine the prognostic value of the CTNNB1 mutational status, and its correlation with β-catenin expression, in a well-annotated cohort of 51 ovarian endometrioid carcinomas. We performed immunohistochemistry for β-catenin and developed an 11-gene next-generation sequencing panel that included whole exome sequencing of CTNNB1 and TP53. Results were correlated with clinicopathologic variables including disease-free and disease-specific survival. Tumor recurrence was documented in 14 patients (27%), and cancer-related death in 8 patients (16%). CTNNB1 mutations were found in 22 cases (43%), and nuclear β-catenin in 26 cases (51%). CTNNB1 mutation highly correlated with nuclear β-catenin (P
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- 2020
7. Gene of the month
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Roman E, Zyla, Elan, Hahn, and Anjelica, Hodgson
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AMP-Activated Protein Kinase Kinases ,Neoplasms ,Mutation ,Peutz-Jeghers Syndrome ,Humans ,Protein Serine-Threonine Kinases - Published
- 2021
8. Gene of the month: FH
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Anjelica Hodgson and Roman E. Zyla
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Skin Neoplasms ,Biology ,Gene Expression Regulation, Enzymologic ,Pathology and Forensic Medicine ,Fumarate Hydratase ,Germline mutation ,Neoplastic Syndromes, Hereditary ,Leiomyomatosis ,Neoplasms ,medicine ,Animals ,Humans ,Genetic Predisposition to Disease ,Gene ,Metabolic disorder ,General Medicine ,medicine.disease ,Citric acid cycle ,Phenotype ,Anaerobic glycolysis ,Fumarase ,Mutation ,Uterine Neoplasms ,Cancer research ,Muscle Hypotonia ,Hereditary leiomyomatosis and renal cell carcinoma ,Psychomotor Disorders ,Homologous recombination ,Metabolism, Inborn Errors - Abstract
Fumarate hydratase (FH), encoded by the FH gene, is an enzyme which catalyses the conversion of fumarate to L-malate as part of the tricarboxylic acid cycle. Biallelic germline mutations in FH result in fumaric aciduria, a metabolic disorder resulting in severe neurological and developmental abnormalities. Heterozygous germline mutations in FH result in hereditary leiomyomatosis and renal cell carcinoma, a cancer predisposition syndrome. FH deficiency has multiple oncogenic mechanisms including through promotion of aerobic glycolysis, induction of pseudohypoxia, post-translational protein modification and impairment of DNA damage repair by homologous recombination. FH-deficient neoplasms can present with characteristic morphological features that raise suspicion for FH alterations and also frequently demonstrate loss of FH immunoreactivity and intracellular accumulation of 2-succinocysteine, also detected by immunohistochemistry.
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- 2021
9. Risk Factors for 1-Year Graft Loss After Kidney Transplantation
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Maureen O. Meade, Yung Lee, Farid Foroutan, Darin Treleaven, Rakhshan Kamran, Roman E Zyla, Ani Orchanian-Cheff, Kathryn Elizabeth Clark, Emir Ali, Christine Ribic, Mitch L. De Snoo, Gordon H. Guyatt, Shahrzad Motaghi, and Erik Loewen Friesen
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medicine.medical_specialty ,Time Factors ,Epidemiology ,030230 surgery ,Critical Care and Intensive Care Medicine ,03 medical and health sciences ,0302 clinical medicine ,Risk Factors ,Internal medicine ,Diabetes mellitus ,medicine ,Humans ,030212 general & internal medicine ,Risk factor ,Kidney transplantation ,Transplantation ,business.industry ,Graft Survival ,Hazard ratio ,Original Articles ,medicine.disease ,Kidney Transplantation ,HLA Mismatch ,Confidence interval ,Nephrology ,business ,Body mass index - Abstract
Background and objectives With expansion of the pool of kidney grafts, through the use of higher-risk donors, and increased attention to donor management strategies, the 1-year graft survival rate is subject to change. It is, therefore, useful to elucidate 1-year graft survival rates by dissecting the characteristics of the low-risk and high-risk kidney transplant cases. The objective of our study was to evaluate factors purported to influence the risk of 1-year graft loss in kidney transplant recipients. Design, setting, participants, & measurements We searched bibliographic databases from 2000 to 2017 and included observational studies that measured the association between donor, recipient, the transplant operation, or early postoperative complications, and 1-year death-censored graft loss. Results We identified 35 eligible primary studies, with 20 risk factors amenable to meta-analysis. Six factors were associated with graft loss, with moderate to high degree of certainty: donor age (hazard ratio [HR], 1.11 per 10-year increase; 95% confidence interval [95% CI], 1.04 to 1.18), extended criteria donors (HR, 1.35; 95% CI, 1.28 to 1.42), deceased donors (HR, 1.54; 95% CI, 1.32 to 1.82), number of HLA mismatches (HR, 1.08 per one mismatch increase; 95% CI, 1.07 to 1.09), recipient age (HR, 1.17 per 10-year increase; 95% CI, 1.09 to 1.25), and delayed graft function (HR, 1.89; 95% CI, 1.46 to 2.47) as risk factors for 1-year graft loss. Pooled analyses also excluded, with a high degree of certainty, any associations of cold ischemia time, recipient race, pretransplant body mass index, diabetes, and hypertension with 1-year graft loss. Conclusions Recipient age, donor age, standard versus extended criteria donor, living versus deceased donor, HLA mismatch, and delayed graft function all predicted 1-year graft survival. The effect of each risk factor is small.
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- 2019
10. The prognostic role of horizontal and circumferential tumor extent in cervical cancer: Implications for the 2019 FIGO staging system
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Danielle Vicus, Bojana Djordjevic, Lilian T. Gien, Jelena Mirkovic, Ekaterina Olkhov-Mitsel, Sharon Nofech-Mozes, Carlos Parra-Herran, and Roman E. Zyla
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0301 basic medicine ,Oncology ,Adult ,medicine.medical_specialty ,Prognostic variable ,Multivariate analysis ,Uterine Cervical Neoplasms ,Stage I Cervical Cancer ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,Stage (cooking) ,Cervix ,Aged ,Neoplasm Staging ,Cervical cancer ,Aged, 80 and over ,business.industry ,Univariate ,Obstetrics and Gynecology ,Middle Aged ,medicine.disease ,Prognosis ,Cervical cancer staging ,030104 developmental biology ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Female ,Neoplasm Grading ,business - Abstract
The FIGO 2019 update on cervical cancer staging removed horizontal tumor extent (HZTE) as a staging variable. Evidence is needed to substantiate this change. The prognostic significance of HZTE and a related variable, circumferential tumor extent (%CTE), is similarly unknown. We aimed to investigate the association of HZTE and %CTE with survival outcomes in cervical cancer patients.We identified patients treated with primary surgery for stage I cervical cancer in a single institution during a 9-year period. HZTE and, when available, %CTE were obtained from pathology records. Cases were staged using 2019 FIGO staging. Correlations between HZTE, %CTE and FIGO stage with recurrence-free (RFS) and disease-specific survival (DSS) were determined using univariable and multivariable analyses.285 patients were included with a median follow-up of 48 (range 7-123) months. HZTE was statistically associated with RFS and DSS on univariate and multivariate analysis. None of the 168 stage IA patients in our series had tumor recurrence or death during follow-up, including 42 with HZTE ≥7 mm. None of the patients with a tumor horizontal extent7 mm experienced recurrence or death. %CTE correlated only with RFS on univariate analysis. 2019 FIGO stage did not independently correlate with RFS or DSS in our sample.HZTE is an independent predictor of survival in cervical carcinoma. In stage IA tumors, however, HZTE does not offer superior prognostic value, supporting the 2019 FIGO recommendations to remove this variable from staging in these cases. HZTE may be useful in larger tumors in which staging depends on maximum tumor size. %CTE is not an independent prognostic variable in cervical cancer, and we advise against its use.
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- 2020
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