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BACKGROUND: Synovial sarcoma is a rare soft tissue malignancy, occasionally found in the head and neck region. The diagnosis necessitates a multidisciplinary approach involving the clinical presentation, proper imaging studies and histological confirmation, with molecular testing for definitive identification. Treatment entails surgical resection with adjuvant therapies as needed. CASE PRESENTATION: A 33-year-old male patient presented with globus sensation concomitant with right-sided neck swelling. He was clinically found to have right tonsil enlargement with posterior extension. Therefore, he underwent right tonsillectomy with pharyngoplasty. Histopathological examination revealed a biphasic tumor consistent with synovial sarcoma, confirmed by immunohistochemistry and fluorescence in situ hybridization. CONCLUSIONS: Tonsillar synovial sarcoma represents a diagnostic challenge, requiring a high index of suspicion and comprehensive evaluation. With only twenty previously published cases documented in the literature, awareness of this rare presentation is crucial for prompt diagnosis and appropriate management. Collaboration among multidisciplinary healthcare teams and ongoing research efforts are essential for optimizing diagnostic accuracy, treatment efficacy, and patient outcomes in this rare malignancy.
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Sarcoma Sinovial , Neoplasias Tonsilares , Humanos , Sarcoma Sinovial/patología , Sarcoma Sinovial/genética , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/química , Masculino , Adulto , Neoplasias Tonsilares/patología , Neoplasias Tonsilares/cirugía , Inmunohistoquímica , Hibridación Fluorescente in Situ , Tonsilectomía , Biomarcadores de Tumor/análisisRESUMEN
Serpins are serine proteinase inhibitors, with several serpins being overexpressed in cancer cells. Thus, we aim to analyze the single-nucleotide polymorphism (SNP) of Serpinb11 and its association with GBM survival. A cohort of 63 GBM patients recruited from King Abdullah University Hospital in Jordan underwent polymorphism analysis and overall survival (OS) assessments. The Cancer Genome Atlas (GBM) cohort was useful for validation. We constructed a risk score using the principal component analysis for the following Serpin genes: Serpinb3, Serpinb5, Serpinb6, Serpinb11, and Serpinb12, and patients were grouped into high- vs. low-risk groups based on the median cutoff. Univariable Cox models were used to study the survival outcomes. We identified a significant association between rs4940595 and survival. In the TCGA cohort, Serpinb3 alterations showed worse OS. Univariable Cox showed worse PFS outcomes with higher SERPINB5 and SERPINB6 expression. A Serpin B 5-gene risk score showed a trend towards worse PFS in the high-risk group. Upregulated DEGs showed GO enrichment in cytokine regulation and production, positive regulation of leukocyte activation, and the MAPK cascade. The high-risk group showed a significantly higher infiltration of M2 macrophages and activated mast cells. Our findings showed a significant role of the Serpin B family in GBM survival in the Jordanian population.
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The association between primary immunodeficiencies and autoinflammatory disorders has been popularized over the past decade. In this report, we illustrated the co-infection of cytomegalovirus (CMV) and Epstein-Barr virus (EBV) in a three-year-old Jordanian male patient with an extremely rare variant of the CYBB gene (c.125C>G, p.Thr42Arg) associated with chronic granulomatous disease (CGD) coexisting with familial Mediterranean fever (FMF). CGD and FMF co-existence induced early-onset inflammatory bowel disease mainly resembling Crohn's disease.
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We performed a 68Ga-DOTATOC PET/CT scan on a 25-mo-old female patient who presented with opsoclonus myoclonus ataxia syndrome and had negative initial anatomic imaging. The scan showed a somatostatin receptor-overexpressing cervical tumor in favor of a cervical neuroendocrine tumor, with subsequent histopathologic findings of ganglioneuroblastoma.
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Ganglioneuroblastoma , Tumores Neuroendocrinos , Síndrome de Opsoclonía-Mioclonía , Compuestos Organometálicos , Humanos , Femenino , Niño , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Radioisótopos de Galio , Síndrome de Opsoclonía-Mioclonía/complicaciones , Síndrome de Opsoclonía-Mioclonía/diagnóstico por imagen , Ganglioneuroblastoma/complicaciones , Ganglioneuroblastoma/diagnóstico por imagen , Radiofármacos , Octreótido , Tumores Neuroendocrinos/patologíaRESUMEN
Acute myeloid leukemia (AML) is a malignancy of the myeloid cells due to the clonal and malignant proliferation of blast cells. The etiology of AML is complex and involves environmental and genetic factors. Such genetic aberrations include FLT3, DNMT3, IDH1, IDH2, NAT2, and WT. In this study, we analyzed the relationship between five, not previously studied in any Arab population, single nucleotide polymorphisms (SNPs) and the risk and overall survival of AML in Jordanian patients. The SNPs are NAT2 (rs1799930 and rs1799931), IDH1 (rs121913500), and IDH2 (rs121913502 and rs1057519736). A total number of 30 AML patients and 225 healthy controls were included in this study. Females comprised 50% (n = 15) and 65.3% (n = 147) of patients and controls, respectively. For AML patients (case group) Genomic DNA was extracted from formalin-fixed paraffin-embedded tissues and from peripheral blood samples for the control subjects group. Genotyping of the genetic polymorphisms was conducted using a sequencing protocol. Our study indicates that NAT2 rs1799930 SNP had a statistically significant difference in genotype frequency between cases and controls (p = 0.023) while IDH mutations did not correlate with the risk and survival of AML in the Jordanian population. These results were also similar in the TCGA-LAML cohorts with the notable exception of the rare NAT2 mutation. A larger cohort study is needed to further investigate our results.
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Arilamina N-Acetiltransferasa , Leucemia Mieloide Aguda , Femenino , Humanos , Masculino , Árabes/genética , Arilamina N-Acetiltransferasa/genética , Estudios de Casos y Controles , Isocitrato Deshidrogenasa/genética , Leucemia Mieloide Aguda/patología , Mutación , Nucleofosmina , Polimorfismo de Nucleótido Simple , PronósticoRESUMEN
Renal cell carcinoma (RCC) exhibits a propensity for unusual wide metastasis. Cutaneous metastasis from RCC is a rare and poorly recognized clinical entity. We present a case of cutaneous metastasis of poorly differentiated RCC in 49-year-old male patient. In the presented case, the skin lesion was the first sign of widely spread RCC. After the establishment of the diagnosis using radiological and histopathological assessments, the patient was labeled as a terminal case and was referred for pain management. He deceased after 6 months of the initial presentation.
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A man in his mid-20s presented with a painless swelling over his right thigh, which had been progressively increasing over 3 years. He underwent an excisional biopsy for the same, which showed reactive lymphadenopathy. Since the last year and a half, he developed a lower abdominal wall swelling with mild redness over it. In addition, over the last few months before presentation to haematology outpatient clinic, he experienced bouts of fever, night sweats, anorexia, weight loss and right inguinal lymphadenopathy. On examination, splenomegaly was identified. In view of the patients' symptoms, he underwent a positron emission tomography scan, which showed hypermetabolic activity in the subcutaneous tissue sparing the lymph nodes and spleen. A deep skin punch biopsy taken from his right thigh was consistent with the diagnosis of subcutaneous panniculitis-like T-cell lymphoma αß T-cell phenotype. The patient was treated successfully with oral steroids and on routine follow-up, he is in remission for 5 years.
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Linfadenopatía , Linfoma de Células T , Humanos , Masculino , Muslo , Linfoma de Células T/complicaciones , Linfoma de Células T/diagnóstico , Linfoma de Células T/tratamiento farmacológico , HipertrofiaRESUMEN
Mature B-cell neoplasms are typically divided into Hodgkin and Non-Hodgkin Lymphomas. Hodgkin Lymphoma is characterized by the neoplastic Reed-Sternberg cells, usually harbored in an inflammatory background, with a frequent clinical presentation of mediastinal lymphadenopathy. Many studies link between autoimmunity and lymphomagenesis, a large proportion of these studies evidently trace the pathogenesis back to the misdirected detection of self-derived nucleic acids by Toll-Like Receptors (TLRs), especially those of the intracellular type. In this study, we analyzed the relationship between a selected SNP in TLR9 (TLR9-1237T>C; rs5743836) and the risk and overall survival of HL patients in a Jordanian Arab population. A total of 374 subjects; 136 cases of Hodgkin lymphoma and 238 matched healthy controls were incorporated in this study. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissues. Genotyping of the genetic polymorphisms was conducted using a sequencing protocol. The results show a statistically significant higher distribution of the rs5743836 (TLR9-1237T>C) allele among the case population, with a p-value of 0.031 (<0.05). This distribution proved significant when studied in the codominant (only significant in the T/C genotype, p-value = 0.030), dominant (p-value = 0.025), and overdominant (p-value = 0.035) models. None of the models showed any statistically significant difference in survival associated with the rs5743836 (TLR9-1237T>C) SNP.
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Enfermedad de Hodgkin , Receptor Toll-Like 9 , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Enfermedad de Hodgkin/genética , Humanos , Polimorfismo de Nucleótido Simple , Receptor Toll-Like 9/genéticaRESUMEN
Background: Primary diffuse large B-cell lymphoma of the bone (PB-DLBCL) is a rare type of extra-nodal lymphoma. This study aimed to examine the clinical characteristics, outcomes, treatment modalities and risk of central nervous system relapse (CNSR) among adult Jordanian patients with PB-DLBCL. Methods: This retrospective study included patients aged >16 years who were diagnosed with PB-DLBCL and treated at our hospital between 2002 and 2021. Clinical characteristics, treatment modalities, outcomes and CNSR events were extracted from the hospital's data system and analysed. Patients were categorised into unifocal (UF) and multifocal (MF) PB-DLBCL groups according to the number of bone sites involved. The involvement of only one site was defined as UF, whereas the involvement of two or more sites was defined as MF. Results: In total, 12 patients were diagnosed with PB-DLBCL. Their median age was 47.5 years (range, 17-80 years). The male:female ratio was 1:1. There were eight patients in the UF PB-DLBCL group and four in the MF PB-DLBCL group. All patients received treatment with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone. In the UF PB-DLBCL group, the male:female ratio was 5:3, the median age was 41 years, and the follow-up duration was 9-135 (mean, 83.3) months. In the MF PB-DLBCL group, the male:female ratio was 1:3, the median age was 51.5 years, and the survival time was 3-11 (mean, 7) months. Three patients with vertebral UF PB-DLBCL underwent early vertebroplasty without complications. The most common site involved was the vertebral column. Most patients with UF PB-DLBCL achieved complete remission (CR), whereas no patients with MF PB-DLBCL achieved CR. Conclusion: PB-DLBCL is rare in adult Jordanian patients. UF PB-DLBCL is more common than MF PB-DLBCL. Patients with UF PB-DLBCL had a good prognosis. Patients with MF PB-DLBCL had a high international prognostic index score, risk of CNSR and short survival time.
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Kikuchi-Fujimoto disease (KFD) is a rare benign and self-limiting syndrome. We aim to review cases of KFD at our institution as a rare illness in the Arab ethnic descent and to analyse reports from most countries in the East Mediterranean zone. This is a retrospective study in which the histopathology database was searched for the diagnosis of KFD. A full review of KFD patients' medical records was done. Data regarding demographic features, clinical presentation, laboratory findings, comorbidities, and management protocols were obtained. Published KFD cases from east Mediterranean countries were discussed and compared to other parts of the world. Out of 1968 lymph node biopsies studied, 11 (0.6%) cases of KFD were identified. The mean age of patients with KFD was 32 years (4-59). 73% (8/11) were females. The disease was self-limiting in 5 patients (45%); corticosteroid therapy was needed in 4 patients (34%). One patient was treated with methotrexate and one with antibiotics. One patient died as a consequence of lymphoma. Jordanians and Mediterranean populations, especially those of Arab ethnic background, seem to have low rates of KFD. The genetic susceptibility theory may help to explain the significantly higher disease prevalence among East Asians. Early diagnosis of KFD-although challenging-is essential to reduce the morbidity related to this illness.
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Linfadenitis Necrotizante Histiocítica/epidemiología , Adolescente , Adulto , Biopsia , Niño , Preescolar , Femenino , Linfadenitis Necrotizante Histiocítica/patología , Humanos , Jordania/epidemiología , Ganglios Linfáticos/patología , Ganglios Linfáticos/cirugía , Masculino , Región Mediterránea/epidemiología , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Helicobacter pylori infection is widespread, affecting about 50% of the global population. Polymorphisms in host genes such as the toll-like receptor 4 (TLR4) might affect the susceptibility and severity of infection and treatment success. OBJECTIVE: Investigate the susceptibility and severity of H pylori infection with host TLR4 (rs11536889, rs4986790, rs200109652, rs10759932), TLR5 (rs5744174, rs2072493, rs746250566), TLR10 (rs559182335, rs10004195) polymorphisms. DESIGN: Analytical, cross-sectional. SETTING: Endoscopy clinic at tertiary care center. PATIENTS AND METHODS: Genomic DNA was extracted from formalin-fixed paraffin-embedded tissues collected from H pylori-infected patients and healthy individuals. The single nucleotide polymorphisms (SNPs) within the targeted TLR genes were genotyped to assess the genetic association of various SNPs with disease severity. MAIN OUTCOME MEASURES: Effect of genotype distribution on H pylori infection. SAMPLE SIZE: 250 peptic ulcer patients and 217 controls. RESULTS: The TLR10 genotype showed no significant association with H pylori infection except for rs10004195 (T>A) (P=.002). The genotype frequency of Rs5744174 in TLR5 had a significant association with the presence of H pylori infection (P=.046, OR=0.52). Except for gender (P=.022), there were no significant associations between clinical and demographic variables and SNPs relating to the severity of the H pylori infections. CONCLUSIONS: Our findings are consistent with differences in severity of H pylori infection due to TLR SNPs in different ethnic groups. Understanding differences in genetic susceptibility could help in classifying patients and matching patients with various treatment options on a genetic basis. LIMITATIONS: Lack of H pylori pathogenicity features assessment. CONFLICTS OF INTEREST: None.
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Infecciones por Helicobacter , Helicobacter pylori , Úlcera Péptica , Estudios Transversales , Predisposición Genética a la Enfermedad , Genotipo , Infecciones por Helicobacter/genética , Humanos , Jordania , Úlcera Péptica/genética , Polimorfismo de Nucleótido Simple , Receptor Toll-Like 10 , Receptor Toll-Like 4/genética , Receptor Toll-Like 5RESUMEN
BACKGROUND: Coronavirus disease 2019 (COVID-19) viral course and behavior remain unpredictable. This study describes incubation time and viral clearance of COVID-19 hospitalized cases in Northern Jordan. METHODS: All COVID-19 confirmed cases hospitalized from March 15 to June 09, 2020, were included. Nasopharyngeal swabs were collected, and COVID-19 reverse transcription-polymerase chain reaction (RT-PCR) was performed every two days in all cases. The viral cure was defined when two negative RT-PCR tests were obtained ≥ 24 hours apart. Viral clearance time (VCT) reflects the time from the first positive nasopharyngeal swab to the first of two consecutive negative tests. RESULTS: In this cohort, a total of 157 patients were included. Most cases resulted from two major outbreaks. The median incubation period was 6 days (IQR, 3-10) and ranged from 1 to 17 days. The median VCT was 13 days (IQR, 7-2) and ranged from 1 to 40 days. Symptomatic presentation and abnormal chest radiograph were predictors for a prolonged VCT (p=0.015 and p=0.014, respectively). The median time of resolution of symptoms was 7 days (IQR, 3-10 days). Most symptomatic cases (91.7%) remained RT-PCR positive for up to 20 days after symptoms resolution, with a median of 13.5 days. VCT significantly correlated with the incubation period (p=0.013). CONCLUSION: Viral cure lagged for as long as 20 days after resolution of symptoms. Continuing with social-distancing, frequent hand hygiene, and wearing facial mask remains essential and is recommended even after clinical resolution of symptoms.
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BACKGROUND: The COVID-19 pandemic had many implications on healthcare services, including cellular pathology. The pandemic-related lockdown was applied in Jordan from March to May 2020. King Abdullah University Hospital (KAUH) was chosen to provide care for COVID-19 patients during that period. Since there was no experience in dealing with COVID-19 patients, the hospital maintained some essential services but canceled elective surgeries and procedures. The rationale was to prioritize care for COVID-19 patients and to provide better adherence to infection control policies and protect non-infected patients and healthcare workers. The purpose of the present study is to investigate the impact of COVID-19 pandemic restrictions on cellular pathology practice patterns at KAUH. METHODS: This is a retrospective observational study conducted at KAUH. All cellular pathology reports during the 2020 national lockdown were retrieved. The total numbers of specimens including types and procedures were recorded. Data were compared with the corresponding data in 2019 when there was no pandemic and when hospital and laboratory services were run in full capacity. RESULTS: 2020 lockdown period showed a 57.9% reduction in the total number of specimens received at the cellular pathology laboratory as compared to the corresponding period of 2019 (1400 versus 3322). Emergency procedures have represented 99.1% of the service during the lockdown with a remarkable diversity shift. CONCLUSION: There was a significant drop in the number of specimens dealt with at KAUH cellular pathology laboratory during the COVID-19 pandemic-related national lockdown. We learned from this pandemic how to adapt to such circumstances by adjusting our way of working to reach the best level of staff safety while maintaining highly productive work. Implementing digital pathology platforms, working from home strategies and alternative training methodologies have emerged as an essential need.
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OBJECTIVES: To assess the correlation between a number of genetic variations of CYP2C19, TNF-α, NOD1, NOD2, and PPARγ genes with the severity of Helicobacter pylori (H. pylori) infections and peptic ulcers (PU). METHODS: A retrospective cross-sectional design was used in this study. Formalin-fixed paraffin-embedded (FFPE) tissue was used to extract genomic DNA that was collected from Jordanian patients who visited endoscopy clinics between 2014 to 2018 at the King Abdullah University Hospital (KAUH), Irbid, Jordan. Genotyping of the studied single nucleotide polymorphisms (SNPs) were applied using the sequencing protocol. Results: A total of 251 patients (mean age: 42.12 ± 16.09 years) and healthy controls (mean age: 52.76 ± 19.45 years) were enrolled in this study. This study showed no significant association between patients and the studied polymorphisms except for rs2075820 of the NOD1 (p=0.0046). It is hypothesized that the heterozygous genotype (TC); 44.8% in patients versus 61.3% in controls has a decreased risk of peptic ulcers (OR: 0.49). The alleles frequency association was insignificant in all studied SNPs with a p-value more than 0.05. CONCLUSION: This study provided evidence regarding the association of the rs2075820 with H. pylori infections. The other studied SNPs were not statistically significant.
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Citocromo P-450 CYP2C19/genética , Predisposición Genética a la Enfermedad , Infecciones por Helicobacter/complicaciones , Helicobacter pylori , Proteína Adaptadora de Señalización NOD1/genética , Proteína Adaptadora de Señalización NOD2/genética , PPAR gamma/genética , Úlcera Péptica/etiología , Úlcera Péptica/genética , Polimorfismo de Nucleótido Simple/genética , Factor de Necrosis Tumoral alfa/genética , Adolescente , Adulto , Anciano , Estudios Transversales , Femenino , Técnicas de Genotipaje/métodos , Humanos , Jordania , Masculino , Persona de Mediana Edad , Adhesión en Parafina , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Gangliogliomas are neoplasms containing both astrocytic and neuronal components. We present a case of gangliogliomas of the optic chiasm, which are extremely rare pathologies. CASE DESCRIPTION: A 16-year-old female patient referred to our clinic with gradual deterioration of vision for the age of 1 year mostly in the right eye. Ophthalmic examination confirmed reduced visual acuity with only perception of light in the left eye. Brain magnetic resonance imaging showed a solid mass lesion involving the hypothalamus and the optic chiasm, which was hypointense on T1-weighted images, hyperintense on T2-WI, and marked homogenous contrast enhancement. The patient was operated and bulging of the optic chiasm and the site of lamina terminalis was seen. Subtotal resection of the tumor was achieved. Histopathological examination revealed ganglioglioma (WHO Grade I). Follow-up of the patient was for 3 years and 8 months with stable neurologic and radiologic findings. CONCLUSION: To the best of our knowledge, 20 cases, including ours, have been reported in the literature and a presurgical diagnosis of ganglioglioma is very infrequent with confused radiologically with low-grade pilocytic astrocytomas.
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Recent advances in molecular biology make the identification of prostate cancer (PC) subsets a priority for more understanding of the molecular pathogenesis and treatment options. Genetic alterations in many genes such as TP53, SPOP and PIK3CA genes have been reported in PC with variable frequencies worldwide. We aimed to investigate genetic alterations in the hotspot lesions of TP53, SPOP and PIK3CA genes by direct sequencing and the expression of TP53 and PIK3CA by RT-PCR in prostate cancer, and to explore the correlation between TP53, SPOP and PIK3CA alterations and tumorigenesis of prostate cancer. Seventy-nine FFPE prostate samples from patients who underwent radical prostatectomy were obtained, subjected to genomic DNA extraction and sequenced for mutations in exons 5, 6, 7 and 8 of TP53 gene, exons 4 and 5 of SPOP gene and exons 9 and 20 of PIK3CA gene. RT-PCR was performed for the expression evaluation of the PIK3CA gene. Our results showed a high frequency of TP53 mutations (11/79, 13.9 %) in the selected population. On the other hand, SPOP and PIK3CA genes did not show any genetic alteration in the sequenced exons. PIK3CA gene overexpression was detected in 6% of the cohort by RT-PCR. TP53 mutation is the most frequent genetic alteration and likely has a major role in the pathogenesis of PC in the Jordanian population.
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Biomarcadores de Tumor/genética , Fosfatidilinositol 3-Quinasa Clase I/genética , Proteínas Nucleares/genética , Neoplasias de la Próstata/patología , Proteínas Represoras/genética , Proteína p53 Supresora de Tumor/genética , Anciano , Anciano de 80 o más Años , Exones , Estudios de Seguimiento , Genómica , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Prostatectomía , Neoplasias de la Próstata/genética , Neoplasias de la Próstata/cirugíaRESUMEN
OBJECTIVE: In this study, we aimed to explore the relationship between five selected proinflammatory and immune-mediated genes (TNF rs1800629G>A, rs361525G>A, rs1799964T>C, LTA rs1800683G>A, rs909253A>G, TNFAIP8 rs1042541C>T, LEPR rs1327118G>C, and LEP rs2167270G>A) and the risk and overall survival of DLBCL patients within the Jordanian Arab population. METHODS: One hundred twenty-five patients (125) diagnosed with DLBCL at the King Abdullah University Hospital (KAUH) between 2013 and 2018 and 238 healthy cancer-free control subjects with similar geographic and ethnic backgrounds to the patients were included in the study. Genomic DNA was extracted from the formalin-fixed paraffin-embedded tissues of the subjects and from peripheral blood samples of the controls. The Sequenom MassARRAY® sequencer system (iPLEX GOLD) was used. The analyses included assessments of population variability and survival. RESULTS: Our study showed significant differences in the distribution of the studied polymorphisms of DLBCL between the patients and controls for TNF rs1800629G>A, LTA rs909253 G>A and LEP rs2167270 G>A. TNF rs1800629G>A (p = 0.01), in which the G allele harbors a higher risk of DLBCL (GG and GA genotypes when compared with AA genotype) (p = 0.044). The LTA rs909253 A>G polymorphism is associated with a higher risk of DLBCL in the allelic model (p = .004). LEP rs2167270 G>A polymorphism is associated with a decreased risk of DLBCL in the recessive mode models (p = .03). Subjects with the dominant model for TNF-a rs1799964 (TT genotype in comparison with the combined TT/TC genotype) and patients with the homozygous genotype (GG) of rs361525 have better overall survival rates. CONCLUSION: Our results confirmed the diversity and the heterogeneity of the disease. Although the study has a limitation because of its relatively small size, it clearly emphasizes the significance of ancestry and genetic composition as the determinants of DLBCL risk and behavior.
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Biomarcadores de Tumor/genética , Predisposición Genética a la Enfermedad , Leptina/genética , Linfoma de Células B Grandes Difuso/mortalidad , Linfotoxina-alfa/genética , Polimorfismo de Nucleótido Simple , Factor de Necrosis Tumoral alfa/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Niño , Femenino , Estudios de Seguimiento , Humanos , Linfoma de Células B Grandes Difuso/genética , Linfoma de Células B Grandes Difuso/patología , Masculino , Persona de Mediana Edad , Pronóstico , Tasa de Supervivencia , Adulto JovenRESUMEN
INTRODUCTION: Among the Jordanian population, brain tumors are the tenth most common type of cancers in both males and females, comprising 2.8% of all newly diagnosed neoplasms. Diffuse gliomas are the most prevalent and the most aggressive primary brain tumors in adults. The incidence of diffuse gliomas varies among different populations; this variation is partially linked to genetic polymorphisms. The purpose of the study is to examine the association between (BRCA1 rs799917G>A, rs1799966T>C, EXO1 rs1047840G>A, EME1 rs12450550T>C, ERCC2 rs13181T>G, rs1799793C>T, and XRCC1 rs1799782G>A) DNA repair gene polymorphisms and glioblastoma multiforme (GBM) susceptibility, and survival in the Jordanian Arab population. METHODS: Eighty-four patients diagnosed with glioblastoma multiforme at the King Abdullah University Hospital (KAUH) between 2013 and 2018 and 225 healthy cancer-free control subjects with similar geographic and ethnic backgrounds to the patients were included in the study. Genomic DNA was extracted from the formalin-fixed paraffin-embedded tissues of the subjects. The Sequenom MassARRAY® sequencer system (iPLEX GOLD) was used. The analyses included assessments of population variability and survival. RESULTS: This study is the first to address the relationship between BRCA1 rs1799966 and rs799917 SNP, and the risk of GBM among the Arab Jordanian population. The findings of the study show that BRCA1 rs799917 is associated with decreased risk of GBM in the recessive model (AA vs G/G-A/G: OR, 0.46, 95% CI, 0.26-0.82, p=0.01) and the same SNP is associated with increased risk of GBM in the overdominant model (AG vs G/G-A/A: OR, 1.72, 95% CI, 1.02-2.89, p=0.04).
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B-cell lymphomas can be classified as Hodgkin and non-Hodgkin lymphomas. Diffuse large B-cell lymphoma (DLBCL) is the most common non-Hodgkin Lymphoma (NHL). The incidence of NHL is variable and affected by age, gender, racial, and geographic factors. There is strong evidence that the immune-regulatory cytokines have a major role in hematologic malignancies. In this study, we analyzed the relationship between seven single nucleotide polymorphisms (SNPs) in two selected cytokines (IL-6 rs1800795G > C, rs1800796G > C, rs1800797G > A, IL-10 rs1800871G > A, rs1800872G > T, rs1800890A > T, rs1800896T > C) and the risk and overall survival of DLBCL patients in a Jordanian Arab population. One hundred and twenty-five DLBCL patients diagnosed at King Abdullah University Hospital (KAUH) from the period 2013-2018 and 238 matched healthy controls were included in the study. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissues. Genotyping of the genetic polymorphisms was conducted using a sequencing protocol. Our study showed no significant differences in the distribution of all studied polymorphisms of DLBCL between patients and controls. The IL-6 rs1800797 was the only SNP to show significant survival results, DLBCL subjects with the codominant model (GG/AG/AA) genotypes and recessive model (AA genotype in comparison with the combined GG/GA genotype) had worse overall survival (p = 0.028 and 0.016, respectively).