The gulf journal of oncology最新文献

{"title":"Pseudotumor of the Infratemporal Fossa Complicated with Orbital Apex Syndromes.","authors":"Nik Mohd Syahrul Hafizzi Awang,&nbsp;Rosli Mohd Noor,&nbsp;Rosdi Ramli,&nbsp;Baharudin Abdullah","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>The infratemporal fossa poses a great challenge to surgeons due to its complex anatomy and communications to many surrounding areas. The disorders that arise from this area can be infections and neoplasms. They can cause varieties of complications due to the extension of the pathologies and compression effect to the other adjacent structures. Inflammatory pseudotumor of the infratemporal fossa is one of the rare disorders of the head and neck.</p><p><strong>Case presentation: </strong>We report a patient with a pseudotumor of infratemporal fossa that extends to the orbital area and cavernous sinus, causing orbital apex syndromes. The diagnostic imaging, different surgical approaches of the biopsy and methods of treatment of this case are discussed.</p><p><strong>Discussion and conclusion: </strong>Radiological imaging and immunohistopathology are essential in establishing the diagnosis and determine the complications. The surgeons must well understand the characteristics and the impact of the disorders on the adjacent structure and give prompt decision to provide definitive treatments.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 38","pages":"78-81"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39916990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunohistochemical Analysis Of Novel Biomarkers Cyclin D1, p53 And Ki67 In Endometrial Carcinoma: Clinicopathological Significance And Prognostic Value.","authors":"Manisha A Atram,&nbsp;V B Shivkumar,&nbsp;Nitin M Gangane","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Endometrial carcinoma (EC) is the only gynecologic cancer with increasing incidence and mortality worldwide. This study aimed to determine association of cell proliferation marker CyclinD1, p53 and Ki67 with clinicopathological parameters and survival analysis in patients of EC.</p><p><strong>Material and methods: </strong>One hundred twenty-four histological confirmed cases of EC treated at our institute were included in this study. The appropriate tissue blocks of cases which were retrieved from 2010 to 2015. The study period was from Jan 2018 to Jan 2020. Data pertaining to patient's clinical details, histopathological diagnosis, treatment and follow up was retrieved from Hospital information System. Immunohistochemical evaluation of Cyclin D1, p53 and Ki67 was done. Overall survival and Disease-free survival for each category were analyzed by the Kaplan-Meier method.</p><p><strong>Results: </strong>Of the 124 cases of EC, 108(87.09%) cases were of type I and 16 (12.89%) cases of type II. Overall positive staining of cyclinD1, p53 and Ki67 were noted in 53.22%, 42.22% and 32.3% cases respectively. The clinicopathological parameters affecting disease-free survival were age (p=0.039) histological types (p=0.007), and FIGO stage (p< 0.001). Elevated Ki67 index and p53 overexpression was associated with type II morphology (p= 0.001). Whereas Cyclin D1 expression was associated with type I morphology and poorly differentiated tumor.</p><p><strong>Conclusion: </strong>Cyclin D1 positive staining, p53overexpression and an elevated Ki-67index all had an independent prognostic significance in endometrial cancer. This panel of biomarkers may help to differentiate tumor behavior, and necessity for more radical surgery and post- operative chemotherapy. Key words: Endometrial carcinoma; cyclin D1; p53; Ki67; Survival analysis.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 38","pages":"15-23"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39916616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uterine Perivascular Epithelioid Cell Tumor (PEComa) in A 56-year-Old Woman.","authors":"Ala Aljehani,&nbsp;Ahmed Abu-Zaid,&nbsp;Mohamed Ismail Albadawi,&nbsp;Osama Alomar,&nbsp;Abdulmohsen Alkushi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Perivascular epithelioid cell tumors (PEComas) are infrequent mesenchymal neoplasms. Primary uterine PEComas are extremely uncommon. To the best of knowledge, around 110 cases of uterine PEComas have been documented in the English-language literature thus far. Herein, we present the case of primary uterine PEComa in a 56-year-old Saudi woman who presented to clinical attention with a six-month history of left-sided abdominal pain. Gynecological examination showed a 5-cm solid mass involving the left adnexa. Tumor markers were normal. Computed tomography scan demonstrated a 4.2 x 4.4 x 3.4 cm superior left fundal exophytic mass. Patient underwent total abdominal hysterectomy plus bilateral salpingo-oophorectomy. Final histopathological examination demonstrated benign/uncertain malignant potential PEComa. No further adjuvant therapy was administered. At six-month follow up, the patient was asymptomatic without recurrence. In conclusion, uterine PEComas are rare. Histopathological assessment establishes the definitive diagnosis. Surgery remains the gold standard in the treatment of uterine PEComas and adjuvant therapy should be guided based on clinical and histopathological risk factors. Keywords: Uterine perivascular epithelioid cell tumor; PEComa; Uterine sarcoma; hysterectomy.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 38","pages":"86-89"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39916992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intracranial Meningiomas Developed after Traditional Scalp Thermal Cautery Treatment in Childhood: Clinical Reports and Gene Expression Analysis.","authors":"Ashwag Alqurashi,&nbsp;Saleh Baeesa,&nbsp;Maher Kurdi,&nbsp;Deema Hussein,&nbsp;Hans -Juergen Schulten","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Human skin cautery, a traditional thermal therapy, is traced back to Hippocrates beyond the 5th century. Those ancient healers used this method to control bleeding and infection and remove cancerous tumors. Such traditional procedure is still in practice in several regions of Asia and Africa to treat certain conditions. There is a lack of reports in the literature regarding the long-term complication and the possible tumorigenesis following traditional treatment with thermal cauterization. Here, we report two patients with intracranial meningiomas and investigate the gene expression profile for a patient. Cases presentations: We report two adult patients who presented with a headache and hemiparesis over six months. Brain magnetic resonance imaging (MRI) scans of both patients revealed intracranial meningiomas. During preoperative preparation of the patients, cautery marks were noticed over the scalp region above the intracranial tumors site, which was performed during childhood. The patients underwent uneventful resection of meningiomas with no local recurrence over a 5-year follow up. In addition, we performed a biofunctional genetic microarray expression analysis on the affected meningioma.</p><p><strong>Conclusion: </strong>There is a lack of evidence-based scientific reports in the literature regarding the long-term complications and tumorigenesis following aggressive treatment with thermal cauterization. Herein, we report the first possible association between previous scalp traditional cautery and the development meningioma in two patients and discuss a proposed causal relationship. However, further advanced studies and research should be done to support, or reject, our hypothesis.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 38","pages":"90-106"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39916993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytoreductive Surgery And Hyperthermic Intraperitoneal Chemotherapy For Recurrent Ovarian Cancer: The First Reported Experience From Saudi Arabia.","authors":"Ahmed Abu Zaid,&nbsp;Osama Alomar,&nbsp;Ahmed Nazer,&nbsp;Hany Salem,&nbsp;Tarek Amin,&nbsp;Ismail A AlBadawi","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>To report our pilot experience (feasibility, morbidity and postoperative outcomes) of cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) for the treatment of patients with recurrent ovarian cancer and peritoneal carcinomatosis.</p><p><strong>Methods: </strong>Thirty nine patients were retrospectively analyzed for perioperative details.</p><p><strong>Results: </strong>The vast majority of patients had platinumsensitive disease (69.2%). Complete (CC-0) and incomplete (CC-1/2) resections were achieved in 24 (61.5%) and 15 (38.5%) patients, respectively. The median peritoneal cancer index (PCI) was 14 (range: 2-28). Cisplatin (50 mg/m2) and doxorubicin (15 mg/m2) was the most frequently used HIPEC regimen (87.2%). No intraoperative morbidity/mortality happened. A total of eight patients developed III-IV postoperative complications (20.5%). Median follow-up time was 41 months (range:3-106). No 60 day readmission/mortality happened. At the last date of follow-up, there were 13 patients who were alive without disease (33.4%); mortality occurred in 10 patients (25.6%). For all patients, the mean diseasefree survival (DFS) and overall survival (OS) were 46.3 months (95% CI: 33.7-58.9) and 81 months (95% CI: 68.6-93.3) respectively. PCI >14 was correlated with statistically significant poor DFS and OS at univariate analysis (p=0.046). When compared to CC-0, CC-1/2 was correlated with poor DFS and OS, however, without statistical significance. Cox multivariate analyses of DFS and OS failed to demonstrate PCI score, CC score and platinum-sensitivity as independent prognosticfactors of DFS and OS.</p><p><strong>Conclusions: </strong>Our study demonstrated the feasibility, safety and favorable clinical outcomes of CRS and HIPEC in patients with recurrent ovarian cancer and peritonealcarcinomatosis.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 37","pages":"48-55"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39913366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Compliance with Oral Hormonal Therapy for Breast Cancer at Oman National Oncology Center; Descriptive Study.","authors":"Suad Al Kharusi,&nbsp;Bahaaeldin Baraka,&nbsp;Laila Al Balushi,&nbsp;Mahmoud Nassar","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Breast cancer is the commonest cancer amongst females. The incidence of breast cancer is estimated to be around 260K yearly. Oral hormonal medication is an essential part of the management of breast cancer for hormone receptor-positive patients. Adjuvant hormonal medication is recommended to be taken daily for 5-10 years. Adjuvant hormonal medication reduces mortality by 30% and the recurrence rate in receptor-positive patients.</p><p><strong>Patients and methods: </strong>This study's primary goal is to evaluate the rate of nonadherence to Endocrine Therapy for hormone receptor-positive breast cancer patients at Oman National Oncology Center. This study included patients taking hormonal therapy (either with Tamoxifen or Aromatase inhibitor) and presented for regular followup between June 2019 and February 2020 at the National oncology center, Oman. Data was collected using a written questionnaire. Descriptive analysis was done by using SPSS. A cross-sectional descriptive study for patients taking oral hormonal therapy. 131 patients were included.</p><p><strong>Results: </strong>One hundred thirty-one patients were included, Tamoxifen was used by 73 (55.73%). 71 (54%) of breast surgery was \"WLE\" The majority of patients 95 (72.5%) did not identify a specific reason for non-compliance. The most commonly reported adverse effects were musculoskeletal symptoms by 75 patients (57.3%), with other reported side effects included hot flashes (33.6%), anxiety (30.5%), gynecological toxicity (29.8%), decreased concentration (19.1%), neurological symptoms (16%), and depression (9.9%).</p><p><strong>Discussion: </strong>We reported that patients with hormone receptor-positive breast cancer have a high adherence rate to the medication than developing countries; selfreported non-compliance to oral hormonal medication is 41.22% below the average of non-compliance to chronic disease therapy of developing countries as WHO report. Medical insurance, unemployment, or drug cost is not a cause for non-compliance to medication.</p><p><strong>Conclusion: </strong>The self-reported nonadherence to oral hormonal medication is (41,22%). Most of the patients (72.5%) did not report a specific cause for non-adherent to medication. Close follow-up is recommended increasing compliance to medication.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 37","pages":"56-61"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39913367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiovascular Toxicity Associated With Tyrosine Kinase Inhibitor Therapy In Chronic Myeloid Leukemia.","authors":"Abdulaziz A Binzaid,&nbsp;Omar J Baqal,&nbsp;Mohammed Soheib,&nbsp;Mohammad Al Nahedh,&nbsp;Hadeel H Samarkandi,&nbsp;Mahmoud Aljurf","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Treatment of Chronic myeloid leukemia (CML) typically entails a long-term course of tyrosine kinase inhibitors (TKI) therapy. This review provides a summary on the cardiotoxic effects of TKIs. Five small molecular TKIs were evaluated in our review. The cardiotoxic effects of TKIs can range from superficial edema to potentially fatal conditions such as congestive heart failure (HF) and acute coronary syndrome (ACS). With the constant introduction of newer generations of TKIs, it has been demonstrated that different TKIs have distinct cardiovascular safety profiles. Amongst which, the first-generation TKI - imatinib appears to have the safest profile, mainly causing edema along with nausea, rash and muscle cramps. Other TKIs, like the second-generation dasatinib, bosutinib,and nilotinib, have shown an increased incidence of pleural effusion and QT prolongation. Ponatinib, a third generation TKI, has shown a relatively high incidence of serious adverse effects including thrombotic vascular occlusion and heart failure, particularly in patients with a prior history of cardiovascular impairment. Therefore, it is advisable that at-risk patients taking TKIs be screened with an Electrocardiogram (ECG) and have a careful cardiovascular risk assessment before starting TKI therapy to avoid potential cardiotoxic effects such as arrhythmias, acute coronary syndrome (ACS), congestive heart failure, and pleural effusion. Keywords: tyrosine kinase inhibitor, TKI, chronic myelogenous leukemia, CML, cardiotoxicity, side effects, imatinib, dasatinib, bosutinib, nilotinib, ponatinib.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 37","pages":"79-84"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39913370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutation Profiling of Intracranial Myxopapillary Ependymoma by Next Generation DNA Sequencing.","authors":"Mohiuddin M Taher,&nbsp;Abdulaziz Abdulnasser Alhussini,&nbsp;Muhammad Saeed,&nbsp;Mohammad Athar,&nbsp;Najwa Abdalkabeer A Bantan,&nbsp;Raid A Jastania,&nbsp;Kamal Bakour Balkhoyour,&nbsp;Tahani H Nageeti","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>Primary intracranial myxopapillary ependymomas (MPE) are very rare. In order to determine genomic changes in an intracranial MPE, we analyzed its mutation patterns by next generation DNA sequencing.</p><p><strong>Methods: </strong>Tumor DNA was sequenced using an Ion PI v3 chip on Ion Proton instrument and the data were analyzed by Ion Reporter 5.6.</p><p><strong>Results: </strong>In this tumor, NGS generated 6,298, 354 mapped reads using the Ion PI v3 Chip. The average reads per amplicon was 29,365, 100% of amplicons had at least 500 reads and the amplicons read end-to-end were 97.58%. In this tumor, NGS data analysis identified 12 variants, of which two were missense mutations, seven were synonymous mutations and three were intronic variants. Missense mutation in c.395G>A; in exon 4 of the IDH1 gene, and a missense mutation in c.215C>G; in exon 4 of the TP53 gene were found in this tumor were previously reported. The known synonymous mutations were found in this tumor were, in exon 14 of FGFR3 in c.1953G>A; in exon 12 of PDGFRA in c.1701A>G; in exon 18 of PDGFRA c.2472C>T; in exon 20 of EGFR in c.2361G>A; in exon 13 of RET in c.2307G>T; in exon 16 of APC in c.4479G>A; and in exon 2 of MET in c.534C>T. Additionally, a known intronic variant was identified in KDR and a known acceptor site splice variant in FLT3 (rs2491231) and a SNP in the 3 ' -UTR of the CSF1R gene (rs2066934) were also identified. Except, the frequency of IDH1 variant, the frequencies of other variants were high, and the p-values were significant and Phred scores were high for all of these mutations.</p><p><strong>Conclusions: </strong>The variants reported in this tumor have not been detected in myxopapillary grade I ependymoma tumor by NGS analysis previously and we therefore report these variants in this case for the first time.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 37","pages":"7-16"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39912922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation Between Tumor Infiltration CD8+ T-cells And PD-L1 Expression In Laryngeal Cancer And Their Prognostic Significance: Prospective Non-interventional Trial.","authors":"Maha Ismail,&nbsp;Marwa M Shakweer,&nbsp;Hesham ElWakiel,&nbsp;Dalia Abd El Ghany,&nbsp;Ahmed Gaballah","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Tumor microenvironment plays crucial role in cancer evolution. There is a dynamic and continuous relation between immune cells and cancer cells' resistance. Tumor infiltration CD8-lymphocytes and programmed death ligand-1 have proved important prognostic role in different malignancies. We aimed at evaluating this role in laryngeal cancer.</p><p><strong>Patients and methods: </strong>We prospectively analyzed laryngeal cancer patients' specimens, to identify the CD8-lymphocytes and the PD-L1 expression. A total score formed of the sum of percentage and intensity of PD-L1. A final rate was considered as negative or low when combined percentage and intensity scores 0 to 4, and high when scores 5-7. CD8-lymphocyte infiltration was divided into strong (= 10/100 of epithelial cells or =20/100 stromal cell infiltration) or weak (<10/100 epithelial cells or <20/100 stromal cell infiltration).</p><p><strong>Results: </strong>Forty patients were included; twelve had stage 1 or 2 and 28 with advanced stages. PD-L1 expressionwas positive in 92.5%. Neither the PD-L1 nor CD8- lymphocytes had overall survival impact, however high PD-L1 correlated with better survival in advanced stage subgroup (p = 0.036), high CD8-lymphocytes infiltration had better survival but did not reach significance. Therewas significant correlation between the CD8-lymphocyte infiltration; whether epithelial or stromal, and tumor PD-L1 expression; p-value of 0.001 and < 0.0001 respectively. Subgroup of patients with low CD8+ infiltration and low PD-L1 had the worst survival.</p><p><strong>Conclusion: </strong>There is a correlation between CD8- l lymphocytes infiltration and PD-L1 expression inlaryngeal cancer and high PD-L1 expression is associated with better OS in advanced stages. Key words: PD-L1, CD8, laryngeal cancer, tumor microenvironment.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 37","pages":"23-31"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39912924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decoding The Genetic Alterations In Cytochrome P450 Family 3 Genes And Its Association With HNSCC.","authors":"S Kamala Devi,&nbsp;A Paramasivam,&nbsp;A S Smiline Girija,&nbsp;J Vijayashree Priyadharsini","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Cytochrome P450 (CYPs) are enzymes belonging to the family of heme-containing proteins, most commonly found in the endoplasmic reticulum and mitochondria. These enzymes catalyze a variety of functions including metabolism of steroids, fatty acids, natural compounds, drugs and carcinogenic chemicals. The inherent association of CYPs with disease conditions have turned the focus into the genetic alterations or variations associated with phenotypes such as drug responsiveness, chemical toxicity and bioconversion of procarcinogens to active carcinogens.</p><p><strong>Results: </strong>A total of 8 genes of the CYP3 family were analyzed, among which 4 genes were found to harbour gross abnormalities and variations. The genes CYP3A4, CYP3A5, CYP3A7, CYP3A43 showed a common pattern of gene amplification in a group of patients. Truncating and missense variants were also identified of which rs199908125 of CYP3A4 and rs768530577 of CYP3A5 were reported in different populations.</p><p><strong>Materials and methods: </strong>The present observation study utilizes several computational tools to identify and predict the possible outcomes of gene alterations in CYP3 family of genes with head and neck squamous cell carcinoma (HNSCC). cBioportal hosts an exhaustive collection of datasets of various cancers which was the primary source of analysis. Oncoprint data obtained was further analysed using tools such as PROVEAN, I-Mutant and gnomAD.</p><p><strong>Discussion: </strong>The gnomAD analysis revealed a few polymorphic rare variants with minor allele frequency less than 0.01, which could have a putative association with HNSCC. Five out of eight variants identified were found to be deleterious exhibiting decreased protein stability.</p><p><strong>Conclusion: </strong>Further screening of the genetic abnormalities through experimental validation in different populations are warranted to derive an association between the gene identifiers and disease phenotype.</p>","PeriodicalId":53633,"journal":{"name":"The gulf journal of oncology","volume":"1 37","pages":"36-41"},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39912926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}