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BACKGROUND AND OBJECTIVE: The demonstration of HER2 in gastric adenocarcinoma (GA) tissues by immunohistochemistry assists in deciding whether targeted therapy would optimise the treatment of GA patients who are HER2 positive. However, this has not been extensively studied in our patients hence the need for this study. METHODS: Recipient tissue microarray blocks were constructed from donor archival formalin fixed paraffin embedded gastric tumour tissue from 80 patients seen over a period of 17 years in a retrospective descriptive study. Slides cut from these blocks were stained with antihuman HER2 antibody by immunohistochemistry and scored using the trastuzumab in gastric adenocarcinomas (ToGA) trial criteria. Data on age, gender, site of lesion and histological subtype of the gastric adenocarcinomas were also retrieved and reviewed. RESULTS: Eighty cases (52 males and 28 females; male to female ratio of 1.9:1), 55.65 ±13.50 years (modal age group 60-69 years), were studied. Most tumours (91.2%) involved the distal parts (pylorus, antrum and body) with a few (8.8%) involving the proximal part (cardia and fundus) of the stomach. HER2 was overexpressed in a total of 6 (7.5%) cases only. Two of seven (28.6%) proximal tumours showed HER2 positivity whereas only 4 of 73 (5.5%) of the distal tumours showed HER2 positivity. CONCLUSION: We had only a slightly lower HER2 overexpression rate than in studies from many other parts of the world. The observed overexpression was significantly higher in proximal than distally located tumours suggesting that distal tumours are less likely to respond to Trastuzumab than proximal tumours. The known association of distal gastric tumours with Helicobacter pylori infection probably provides for a possible difference in the molecular aetiopathogenesis of GAs by site of occurrence. The exact mechanisms for proximal gastric carcinogenesis remain to be more clearly elucidated. More studies, including clinical trials with larger sample sizes, are recommended to elucidate this differential expression of HER2 in gastric adenocarcinoma.
CONTEXTE ET OBJECTIF: La démonstration de la présence de HER2 dans les tissus d'adénocarcinome gastrique (AG) par immunohistochimie aide à décider si une thérapie ciblée optimiserait le traitement des patients atteints d'AG HER2 positif. Cependant, cela n'a pas été largement étudié chez nos patients, d'où la nécessité de cette étude. MÉTHODES: Des blocs de microarray de tissus destinataires ont été construits à partir de tissus tumoraux gastriques inclus en paraffine d'archives provenant de 80 patients vus sur une période de 17 ans, dans le cadre d'une étude descriptive rétrospective. Les lames découpées à partir de ces blocs ont été colorées avec un anticorps anti-HER2 humain par immunohistochimie et évaluées selon les critères de l'essai trastuzumab dans les adénocarcinomes gastriques (ToGA). Les données sur l'âge, le sexe, le site de la lésion et le sous-type histologique des adénocarcinomes gastriques ont également été récupérées et examinées. RÉSULTATS: Quatre-vingts cas (52 hommes et 28 femmes ; rapport hommes-femmes de 1,9:1), 55,65 ± 13,50 ans (groupe d'âge modal 60-69 ans), ont été étudiés. La plupart des tumeurs (91,2 %) ont touché les parties distales (pylore, antre et corps) avec quelques-unes (8,8 %) touchant la partie proximale (cardia et fundus) de l'estomac. HER2 a été surexprimé dans un total de 6 cas seulement (7,5 %). Deux des sept tumeurs proximales (28,6 %) ont montré une positivité HER2, tandis que seulement 4 des 73 tumeurs distales (5,5 %) ont montré une positivité HER2. CONCLUSION: Nous avons eu un taux de surexpression de HER2 légèrement inférieur à celui observé dans de nombreuses autres régions du monde. La surexpression observée était significativement plus élevée dans les tumeurs proximales que dans les tumeurs distales, suggérant que les tumeurs distales sont moins susceptibles de répondre au trastuzumab que les tumeurs proximales. L'association connue des tumeurs gastriques distales avec l'infection par Helicobacter pylori fournit probablement une différence potentielle dans l'étiopathogenèse moléculaire des AG par site d'occurrence. Les mécanismes exacts de la carcinogenèse gastrique proximale restent à élucider plus clairement. Davantage d'études, y compris des essais cliniques avec des tailles d'échantillons plus importantes, sont recommandées pour élucider cette expression différentielle de HER2 dans l'adénocarcinome gastrique. MOTS-CLÉS: Adénocarcinome gastrique, expression de HER2, Immunohistochimie, Thérapie ciblée.
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Adenocarcinoma , Imuno-Histoquímica , Receptor ErbB-2 , Neoplasias Gástricas , Centros de Atenção Terciária , Humanos , Neoplasias Gástricas/metabolismo , Neoplasias Gástricas/patologia , Masculino , Feminino , Adenocarcinoma/metabolismo , Adenocarcinoma/patologia , Pessoa de Meia-Idade , Receptor ErbB-2/metabolismo , Idoso , Estudos Retrospectivos , Imuno-Histoquímica/métodos , Nigéria , Adulto , Biomarcadores Tumorais/metabolismoRESUMO
OBJECTIVES: Diabetes mellitus (DM) is a global health problem with associated high morbidity and mortality. This study was a retrospective review of post-mortem examination findings of hospitalised patients with DM for causes of death. MATERIALS AND METHODS: A retrospective, cross-sectional autopsy review of all the patients with DM in our hospital between January 2008 and December 2017 was conducted. The causes of death were classified into cardiovascular, cerebrovascular, acute diabetic emergencies, infection, cancers and unnatural deaths. The demographic data and clinicopathological parameters were extracted, and the data were analysed using the SPSS software version 23. RESULTS: A total of 1092 cases of autopsy were done within the study period, of which 91 cases were on patients with diabetes accounting for 8.3%. Infections with sepsis were the major cause of death, accounting for 51.6% followed by cardiovascular diseases (16.5%), cancers (14.3%), acute diabetic emergencies (6.6%) and cerebrovascular accidents (6.6%), with renal complications and road traffic accidents accounting for 2.2% each. Patients' age ranged from 31 to 84 years, with a modal age of 57 years. There was a male predominance with a male-to-female ratio of 1.5:1. Systemic hypertension co-morbidity was statistically significantly more common in patients aged 60 and above (P = 0.035). The most common lesion observed in the kidneys was benign nephrosclerosis (43.2%). CONCLUSIONS: This study suggests that majority of our patients with diabetes mellitus die from infections with attendant sepsis. Older patients appear to have co-morbid systemic hypertension. Patient education on infection prevention and prompt treatment might be life-saving.
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Autopsia/estatística & dados numéricos , Complicações do Diabetes/mortalidade , Diabetes Mellitus Tipo 2/mortalidade , Hipertensão/mortalidade , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/mortalidade , Causas de Morte , Transtornos Cerebrovasculares/mortalidade , Comorbidade , Estudos Transversais , Feminino , Humanos , Hipertensão/complicações , Masculino , Doenças Metabólicas/mortalidade , Pessoa de Meia-Idade , Nigéria/epidemiologia , Doenças Respiratórias/mortalidade , Estudos Retrospectivos , Sepse/epidemiologia , Caracteres Sexuais , Distribuição por Sexo , Centros de Atenção TerciáriaRESUMO
BACKGROUND: Hydatidiform mole (HM) is the most common gestational trophoblastic disease. P57kip2 has been reported to be helpful in differentiating between partial and complete HMs. OBJECTIVES: The study aims to evaluate the P57kip2 immunohistochemical (IHC) marker as a useful ancillary investigation to differentiate complete hydatidiform mole (CHM) from partial hydatidiform mole (PHM). MATERIALS AND METHODS: A retrospective study of all histologically diagnosed HM cases over a 20 year period was undertaken. Clinicopathological parameters were extracted from the surgical day book and medical record archives. Archival haematoxylin- and eosin-stained slides and formalin-fixed paraffin-embedded tissue blocks of all cases of HM diagnosed within the study period were retrieved and reviewed. Cases of HM were reclassified using the P57kip2 IHC marker. The data obtained were analysed using the SPSS version 23. RESULTS: One hundred cases of HMs were studied. CHM accounted for 68%, while PHM accounted for the remaining 32%. The incidence of HM was 2.98 cases per 1000 deliveries. The ratio of CHM to PHM was found to be 2.1:1. Seventy-two per cent of the cases were diagnosed in the first trimester, while the remaining 28% were diagnosed in the second trimester of pregnancy. Based on the P57kip2 IHC staining pattern, HM cases were finally reclassified into 68 cases of CHM and 32 cases of PHM. The age range for all the HM cases was 18-50 years with the majority of the cases seen in the third and fourth decades of life. CONCLUSION: P57kip2 could be useful as an ancillary investigation in confirming the diagnosis of CHM and differentiating it from PHM, particularly in difficult and challenging cases.
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Mola Hidatiforme , Neoplasias Uterinas , Adolescente , Adulto , Inibidor de Quinase Dependente de Ciclina p57 , Feminino , Instalações de Saúde , Humanos , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/epidemiologia , Imuno-Histoquímica , Pessoa de Meia-Idade , Nigéria , Gravidez , Estudos Retrospectivos , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/epidemiologia , Adulto JovemRESUMO
Somatic mutation signatures may represent footprints of genetic and environmental exposures that cause different cancer. Few studies have comprehensively examined their association with germline variants, and none in an indigenous African population. SomaticSignatures was employed to extract mutation signatures based on whole-genome or whole-exome sequencing data from female patients with breast cancer (TCGA, training set, n = 1,011; Nigerian samples, validation set, n = 170), and to estimate contributions of signatures in each sample. Association between somatic signatures and common single nucleotide polymorphisms (SNPs) or rare deleterious variants were examined using linear regression. Nine stable signatures were inferred, and four signatures (APOBEC C>T, APOBEC C>G, aging and homologous recombination deficiency) were highly similar to known COSMIC signatures and explained the majority (60-85%) of signature contributions. There were significant heritable components associated with APOBEC C>T signature (h2 = 0.575, p = 0.010) and the combined APOBEC signatures (h2 = 0.432, p = 0.042). In TCGA dataset, seven common SNPs within or near GNB5 were significantly associated with an increased proportion (beta = 0.33, 95% CI = 0.21-0.45) of APOBEC signature contribution at genome-wide significance, while rare germline mutations in MTCL1 was also significantly associated with a higher contribution of this signature (p = 6.1 × 10-6 ). This is the first study to identify associations between germline variants and mutational patterns in breast cancer across diverse populations and geography. The findings provide evidence to substantiate causal links between germline genetic risk variants and carcinogenesis.
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Negro ou Afro-Americano/genética , Neoplasias da Mama/genética , Mutação em Linhagem Germinativa/genética , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética , Idoso , Exoma/genética , Feminino , Predisposição Genética para Doença , Genoma Humano/genética , Humanos , Pessoa de Meia-Idade , Nigéria , Estados Unidos , Sequenciamento do Exoma/métodosRESUMO
Genital Chlamydia trachomatis infection causes significant morbidity and mortality in women. A number of epidemiologic studies have suggested that Polymerase Chain Reaction (PCR) is more accurate as a diagnostic tool for Chlamydia trachomatis. However, the use of serological markers may be cost effective and practical in diagnosing and estimating the burden of the disease in resource limited countries.This study was aimed at determining the serological markers (IgG, IgM and IgA) of Chlamydia trachomatis, evaluate the association between Chlamydia trachomatis infection and the sociodemographic characteristics and clinical diagnosis of the participants. This was a cross sectional hospital-based study in which blood samples from 145 consenting participants were tested for IgG, IgM and IgA antibodies against Chlamydia trachomatis using enzyme linked immunosorbent assay and their clinical diagnosis, retrieved from their case notes. The cumulative prevalence of seropositivity for Chlamydia trachomatis (IgG, IgM, IgA) was 112 (77.2%) while 33 (22.8%) were seronegative. The overall predominant seromarker was IgG 91(62.8%) while IgM and IgA accounted for 85(58.6%) and 54(37.2%) respectively. A statistically significant association was found between Chlamydia trachomatis infection and PID (p value = 0.031), primary infertility (p value 0.011) and level of income (p value= (0,045).
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Anticorpos Antibacterianos/sangue , Infecções por Chlamydia/diagnóstico , Chlamydia trachomatis/isolamento & purificação , Ensaio de Imunoadsorção Enzimática/métodos , Adulto , Infecções por Chlamydia/sangue , Infecções por Chlamydia/epidemiologia , Estudos Transversais , Feminino , Hospitais de Ensino , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Nigéria/epidemiologia , Prevalência , Testes Sorológicos , Adulto JovemRESUMO
Introduction: cervical cancer is primarily driven by high-risk human papillomavirus infections. It is a leading cause of cancer-related deaths among women globally. The emergence of immunotherapeutic approaches, particularly programmed death ligand-1 (PD-L1) inhibitors, has shown promise in various cancers. This study aims to investigate the correlation between PD-L1 expression and HPV status in cervical carcinoma samples from a Nigerian tertiary hospital. Methods: the study was conducted in the Department of Pathology of our hospital. The study materials were 101 cases of archival formalin-fixed paraffin-embedded (FFPE) tissue blocks that met the study criteria recruited retrospectively from January 2012 to December 2016. Immunohistochemistry for PD-L1 was done and real time PCR for HPV DNA was done using CFX96. The data were then analyzed using SPSS version 23. P < 0.05 was considered significant. Results: high-risk HPV detection rate was 51%. The two most common genotypes were HPV 16 (84.3%) and HPV 35 (17.6%). The predominant infections were single genotypes occurring in 80.4% of the cases. There was no correlation of HPV status with PD-L1, histological grade or type of cervical carcinoma. High-risk HPV did not show any distribution pattern with age groups of patients. Conclusion: human papillomavirus 16 is the most predominant cause of cervical carcinoma. There are some environmental variations in the frequency of other genotypes with HPV 35 being relatively more common than HPV 18 in this study. Programmed death ligand-1 was positive in 47% of the cases but did not show any correlation with the HPV infection status.
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Antígeno B7-H1 , Genótipo , Infecções por Papillomavirus , Centros de Atenção Terciária , Neoplasias do Colo do Útero , Humanos , Feminino , Neoplasias do Colo do Útero/virologia , Neoplasias do Colo do Útero/patologia , Infecções por Papillomavirus/virologia , Antígeno B7-H1/metabolismo , Antígeno B7-H1/genética , Estudos Retrospectivos , Nigéria , Pessoa de Meia-Idade , Adulto , Idoso , Papillomaviridae/isolamento & purificação , Papillomaviridae/genética , DNA Viral/análise , Adulto Jovem , Imuno-Histoquímica , Reação em Cadeia da Polimerase em Tempo Real , Papillomavirus HumanoRESUMO
PURPOSE: Black women experience the highest breast cancer mortality rate compared with women of other racial/ethnic groups. To gain a deeper understanding of breast cancer heterogeneity across diverse populations, we examined a VEGF-hypoxia gene expression signature in breast tumors from women of diverse ancestry. EXPERIMENTAL DESIGN: We developed a NanoString nCounter gene expression panel and applied it to breast tumors from Nigeria (n = 182) and the University of Chicago (Chicago, IL; n = 161). We also analyzed RNA sequencing data from Nigeria (n = 84) and The Cancer Genome Atlas (TCGA) datasets (n = 863). Patient prognosis was analyzed using multiple datasets. RESULTS: The VEGF-hypoxia signature was highest in the basal-like subtype compared with other subtypes, with greater expression in Black women compared with White women. In TCGA dataset, necrotic breast tumors had higher scores for the VEGF-hypoxia signature compared with non-necrosis tumors (P < 0.001), with the highest proportion in the basal-like subtype. Furthermore, necrotic breast tumors have higher scores for the proliferation signature, suggesting an interaction between the VEGF-hypoxia signature, proliferation, and necrosis. T-cell gene expression signatures also correlated with the VEGF-hypoxia signature when testing all tumors in TCGA dataset. Finally, we found a significant association of the VEGF-hypoxia profile with poor outcomes when using all patients in the METABRIC (P < 0.0001) and SCAN-B datasets (P = 0.002). CONCLUSIONS: These data provide further evidence for breast cancer heterogeneity across diverse populations and molecular subtypes. Interventions selectively targeting VEGF-hypoxia and the immune microenvironment have the potential to improve overall survival in aggressive breast cancers that disproportionately impact Black women in the African Diaspora.
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Neoplasias da Mama , Regulação Neoplásica da Expressão Gênica , Fator A de Crescimento do Endotélio Vascular , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Biomarcadores Tumorais/genética , Negro ou Afro-Americano , População Negra/genética , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Neoplasias da Mama/mortalidade , Neoplasias da Mama/metabolismo , Perfilação da Expressão Gênica , Hipóxia/genética , Prognóstico , Transcriptoma , Microambiente Tumoral/genética , Regulação para Cima , Fator A de Crescimento do Endotélio Vascular/genética , Fator A de Crescimento do Endotélio Vascular/metabolismoRESUMO
Diffuse large B-cell lymphoma is the most common lymphoma, accounting for 30% of all non-Hodgkin lymphomas; they can grow rapidly and often present as masses infiltrating tissues or obstructing organs. We report the case of a 58-year-old female who presented with a one-month history of generalized body weakness and weight loss with a two-week history of yellowness of the eyes, fever, dyspnea, and bilateral leg swelling. Examination at presentation revealed pallor, fever, jaundice, hepatomegaly, and bilateral pitting pedal edema. Laboratory investigations revealed severe anemia, deranged clotting profile, azotemia, elevated liver enzymes, and elevated tumor markers CA125, CEA, and CA 19.9. Abdominal ultrasound showed hepatomegaly and a large head of the pancreas. The initial diagnosis was obstructive jaundice due to carcinoma of the head of the pancreas. Despite all care offered, her clinical condition deteriorated until she died on the 12th day of admission. A postmortem examination showed a mass in the head of the pancreas and bile duct, enlarged para-aortic and mesenteric lymph nodes with ascites, pericardial nodules, and bronchopneumonia. Histological and immunohistochemical analysis of postmortem biopsies confirmed the diagnosis of a diffuse large B cell lymphoma. This case highlights the diagnostic dilemma often seen in disseminated diffuse large B-cell lymphoma. The patient presented with features referable to different organs and systems. If detected early, most cases respond to standard immuno-chemotherapy. However, it can also become rapidly fatal and ultimately lead to death, as seen in this case.
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Background: Ovarian cancer is the leading cause of death from all gynaecological malignancies. Only few biomarkers of epithelial ovarian cancer (EOC) prognosis have been studied so far among Nigerian patients. Objective: To determine the pattern of oestrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER-2) expression in patients with EOC seen in Nigeria. Materials and Methods: This was a retrospective multicentre study of 102 cases of epithelial ovarian cancers. Relevant clinical information was obtained from hospital-based records in the 3 participating centres. Tissue microarrays were constructed using representative tumour tissue and the ER, PR and HER2 immunohistochemical staining was carried out at the University of Chicago, United States of America. Results: Serous carcinomas predominated (71% of cases). ER positivity was observed in 31.4%, PR positivity in 21.5% and HER2/neu in 16.7% of tumours. Fifty-two percent of tumours were triple negative. Serous tumours were significantly associated with ER positivity (p=0.001). Mean patient age for EOC was 52.6 ± 13.1 years. There were no statistically significant associations between hormone receptor status and histological grade, FIGO staging or survival. Conclusion: Serous tumours were significantly associated with ER expression while non-serous tumours tended to be triple negative.
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Neoplasias Ovarianas , Receptores de Estrogênio , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Carcinoma Epitelial do Ovário , Receptores de Estrogênio/metabolismo , Receptores de Progesterona , Biomarcadores Tumorais/metabolismo , Nigéria/epidemiologia , Receptor ErbB-2/metabolismo , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , EstrogêniosRESUMO
BACKGROUND: The programme death ligand1 and its receptor (PD-1/PD-L1) interaction is a target for blockage by immunotherapy that uses the body's own immune system. Some studies show that PD-L1 expressing tumours are also more aggressive with poor prognosis. This study evaluated the immunohistochemical expression of PD-L1 in uterine cervical carcinomas. Women with cervical cancer would benefit from its use as a marker in therapy and prognosis. METHODS: Hospital-based cross-sectional retrospective study was conducted. The study materials included 183 archived formalin fixed and paraffin embedded (FFPE) tissue blocks with histological diagnosis of cervical carcinoma diagnosed in our facility within a five-year period (January 2012 and December 2016) that met the study criteria. Data were extracted from records in the Department and immunohistochemistry was done using polyclonal antibodies to PD-L1 (GTX104763, Genetex). Obtained data were analysed using SPSS version 23. P < 0.05 was considered significant. RESULTS: A hundred and eighty-three cases of cervical cancer were studied. PD-L1 was positive in 57.4% of all cases. The diffuse pattern of staining was the major pattern accounting for 88.5% of positive cases. Poorly differentiated cervical carcinomas are less likely to express PD-L1. Within the histologic types, the squamous cell carcinomas expressed PD-L1 in 58.7%, and 50% of adenocarcinomas were positive. PD-L1 was not expressed in all cases of adenoid cystic carcinomas and basaloid squamous cell carcinomas. CONCLUSION: A significant population of cervical carcinoma expresses PD-L1 by immunohistochemistry. PD-L1 prevalence is lower amongst the poorly differentiated cancers compared to other grades.
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Antígeno B7-H1/metabolismo , Imunoterapia , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/terapia , Adenocarcinoma/diagnóstico , Adenocarcinoma/metabolismo , Adenocarcinoma/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/metabolismo , Carcinoma Adenoide Cístico/terapia , Carcinoma Adenoescamoso/diagnóstico , Carcinoma Adenoescamoso/metabolismo , Carcinoma Adenoescamoso/terapia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/terapia , Estudos Transversais , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Nigéria , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento , Neoplasias do Colo do Útero/metabolismo , Adulto JovemRESUMO
Background: Autopsy remains an invaluable resource for medical education and establishing diagnosis of diseases that were missed prior to death. Many patients on admission in hospitals suffer kidney diseases that may contribute to their morbidity and/or mortality. The kidneys from autopsies provide opportunity to diagnose and understand some of these non-neoplastic renal lesions. This study aimed to present the frequency of non-neoplastic renal diseases at autopsy. Methods: We conducted a five-year retrospective review of post-mortem records of deceased who had autopsy. Data such as age, sex, cause of death, and kidney lesions were extracted from the post-mortem records and clinical details were gotten from the clinical summaries in the autopsy reports. The kidneys were examined for pathological findings that were then classified into glomerular, tubulointerstitial (tubulointerstitial nephritis and other tubular lesions such as tubular necrosis, casts and fibrosis) and vascular lesions. Results: A total of seventy (70) cases met the inclusion criteria with 91.4% having significant non-neoplastic renal lesions. The mean age of the deceased was 57.7years (18years - 91years). Males accounted for 65.7% of the cases. Glomerular lesions were seen in 84.3% of the cases, tubulointerstitial nephritis in 41.6% of cases, vascular lesions were seen in 30% of the cases and other tubular lesions (such as stones, casts and tubular necrosis) were seen in 52.9% of the cases. Cardiovascular diseases and infections were the major causes of death in these patients, accounting for 40% and 27% respectively. Renal diseases were attributed to immediate cause of death in 10% of the cases. Conclusion: The kidney at autopsy provides a valuable renal pathology educational tool, as a wide range of medical renal lesions can be seen from kidneys examined at post mortem.
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Nefropatias , Rim , Autopsia , Humanos , Nefropatias/diagnóstico , Nefropatias/epidemiologia , Masculino , Pessoa de Meia-Idade , Nigéria/epidemiologia , Estudos RetrospectivosRESUMO
Black women across the African diaspora experience more aggressive breast cancer with higher mortality rates than white women of European ancestry. Although inter-ethnic germline variation is known, differential somatic evolution has not been investigated in detail. Analysis of deep whole genomes of 97 breast cancers, with RNA-seq in a subset, from women in Nigeria in comparison with The Cancer Genome Atlas (n = 76) reveal a higher rate of genomic instability and increased intra-tumoral heterogeneity as well as a unique genomic subtype defined by early clonal GATA3 mutations with a 10.5-year younger age at diagnosis. We also find non-coding mutations in bona fide drivers (ZNF217 and SYPL1) and a previously unreported INDEL signature strongly associated with African ancestry proportion, underscoring the need to expand inclusion of diverse populations in biomedical research. Finally, we demonstrate that characterizing tumors for homologous recombination deficiency has significant clinical relevance in stratifying patients for potentially life-saving therapies.
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Biomarcadores Tumorais/genética , Neoplasias da Mama/genética , Evolução Clonal , Disparidades nos Níveis de Saúde , Adulto , Idoso , Biópsia , População Negra/etnologia , População Negra/genética , Mama/patologia , Neoplasias da Mama/etnologia , Neoplasias da Mama/mortalidade , Neoplasias da Mama/patologia , Análise Mutacional de DNA , Feminino , Fator de Transcrição GATA3/genética , Heterogeneidade Genética , Instabilidade Genômica , Mutação em Linhagem Germinativa , Humanos , Pessoa de Meia-Idade , Nigéria/epidemiologia , Nigéria/etnologia , RNA-Seq , Medição de Risco , Sinaptofisina/genética , Transativadores/genética , Microambiente Tumoral/genética , População Branca/etnologia , População Branca/genética , Sequenciamento Completo do GenomaRESUMO
Background: Endometrial carcinoma is the commonest genital tract malignancy in most developed nations, but it lags behind cervical carcinoma and ovarian cancers in most developing nations including Nigeria. Estrogen has been described as a promoter of endometrial carcinogenesis. Objectives: The aim of this study was to demonstrate the frequency of estrogen receptor (ER) and progesterone receptor (PR) expressions of endometrial carcinoma and to correlate it with tumour grade. Materials and Methods: Cases of endometrial carcinoma diagnosed in the Department of Pathology over a 10-year period were reviewed retrospectively. The paraffin-embedded blocks were retrieved, and immunohistochemistry for ER and PR was performed on them. Haematoxylin and eosin (H&E) slides were reviewed, and tumours were graded by three independent pathologists. Data were analysed using SPSS version 22. The level of significance was set at P ≤ 0.05. Results: There were 44 cases of endometrial carcinoma. ER and PR were positive in 29.5% and 18.2% of endometrial carcinoma, respectively. There was no significant association between ER (P = 0.361) and PR (P = 0.204) expressions and histological grade of the tumour. The most common histological grade was grade 3 with 70% of cases (36 cases), whereas 13 cases (26%) were grade 2 and only 2 cases (4%) were grade 1. Conclusion: The positive expressions of ER and PR in endometrial carcinoma suggest that steroid receptor studies may be of potential benefit in the management of some patients with endometrial carcinoma. Future studies employing larger sample size are therefore recommended.
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BACKGROUND: Inflammatory pseudotumor (IPT) is a relatively rare benign disease. The aim of the study was to demonstrate the demographic distribution, clinical presentation, and histomorphological characteristics of IPT while highlighting its associated diagnostic challenges. MATERIALS AND METHODS: A retrospective cross-sectional review of all the IPT diagnosed in our institution between January 1999 and December 2018 was conducted. The samples were received from within and outside the hospital facility. The demographic data, clinical history, and histologic reports were reviewed. RESULTS: A total of 25 cases of histologically confirmed IPT were seen. Patients' age ranges from 7 to 74 years with a mean age of 38.96 years and standard deviation ± 17.94 years. There was a bimodal peak occurrence in the third and fifth decades. Most of the patients were adults (23, 92%), whereas only 2 (8%) were children. There was a female preponderance with a male-to-female ratio of 1:2.6. The head and neck had the highest number of cases (44%), followed by the gastrointestinal tract (GIT) (40%). Eight (73%) of head and neck cases occurred in the orbit. The presenting complaints depended on the site of the lesion with pain and swelling being the commonest symptoms irrespective of the site of the lesions. Two cases of bilateral IPT were observed. Immunohistochemistry was used in a certain condition of diagnostic dilemma. CONCLUSION: This study showed a female preponderance of IPT with the head and neck and GIT being the most common location. It is important to rule out other differentials in the diagnosis of IPT.
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Background: Thyroid carcinoma is a common endocrine malignancy. It is however rare in childhood and often occurs as a result of radiation exposure or inherited genetic mutations. Most childhood thyroid carcinomas are well differentiated. There are very few epidemiological studies of this disease in Nigeria and our study aimed to determine the frequency in a subset of our population. The study aimed to determine the prevalence and histopathological characteristics of childhood thyroid carcinoma in our environment. Methods: This was a retrospective review of histopathologically diagnosed thyroid carcinoma in children less than 18 years of age in the Department of Pathology, University College Hospital, Ibadan over a 40-year period. Histopathological diagnosis, age, sex and other relevant clinical information were extracted from the hospital records and surgical pathology records of the department. All cases of patients under18 years old had their slides re-examined and reclassified by two pathologists according to the World Health Organization histopathological classification of thyroid tumours. Results: There were 25 cases of thyroid carcinomas seen in children within the study period. Papillary thyroid carcinoma was the most common, accounting for 80% of the cases. Follicular carcinoma accounted for 12%, and medullary and anaplastic carcinoma accounted for 4% each. The mean age at presentation was 13 years. There was a female preponderance with females accounting for 60% of cases. Tumours with distant metastasis made up 20% of the cases. Conclusion: Childhood thyroid carcinomas are rare in our environment, with a minority of cases presenting with metastases.
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Adenocarcinoma Folicular/patologia , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Adenocarcinoma Folicular/diagnóstico , Adenocarcinoma Folicular/epidemiologia , Adolescente , Criança , Feminino , Humanos , Masculino , Nigéria/epidemiologia , Prevalência , Estudos Retrospectivos , Câncer Papilífero da Tireoide/diagnóstico , Câncer Papilífero da Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/epidemiologiaRESUMO
Parathyroid adenoma is the most common cause of primary hyperthyroidism which leads to abnormal calcium homeostasis, hypercalcemia, and reduction in bone density. A 37-year-old female referred from a private health facility with a 1-year history of upper back swelling and pain. The pain was worse when sitting down for long periods and with movement and relieved by rest. There was no antecedent history of trauma, but the patient had noticed poor appetite and weight loss. There were no constipation, no abdominal discomfort, and no symptom suggestive of hyperthyroidism or hypothyroidism. General physical examination revealed kyphoscoliosis, and vital signs were within normal limits. Spine X-ray showed features of cervical spondylosis. Computed tomography (CT) scan and magnetic resonance imaging showed pathologic fractures of the right 9 thrib, anterior wedge compression, and reduction of T4 vertebrae with other abnormalities at T4-T5, T5-T6, T7-T8, T10-T11, and L4-L5 vertebrae. Bone marrow aspiration and serum electrophoresis were within normal limits. Serum calcium showed hypercalcemia. A CT scan of the neck was done which showed features of a right superior parathyroid adenoma. Blood count, other serum electrolytes, and thyroid function tests were all normal. A parathyroidectomy with right thyroid lobectomy was done. Histopathological examination of the resected parathyroid gland showed a diagnosis of parathyroid adenoma. A high index of suspicion is needed to diagnose this unusual presentation of parathyroid adenoma. Radiological imaging is an important tool for early diagnosis.
RESUMO
Background: Lymphomas are a heterogeneous group of tumors of lymphoid tissue in which there is a malignant proliferation of cells of the lymphatic system. They are the most frequent nonepithelial malignancy in the head and neck region. Objectives: The aim of this study was to evaluate the histological pattern of the disease in the head and neck region and trends in presentation seen in our center. Materials and Methods: This was a retrospective study of cases of head and neck lymphoma (HNL) seen in the Pathology Department of the University College Hospital Ibadan, Nigeria over a period of 37 years (1981-2017). Information extracted from the records included the sociodemographics of the patients, tumor location, and histological type among others. Data were analyzed and results were presented as frequencies and percentages. Results: There were a total of 373 cases of histologically and/or cytologically diagnosed HNL seen during the study period (an average of 10 cases per year). The mean age of patients was 33.5 ± 21.9 years with male:female ratio of 1.6:1. Most HNL were non-Hodgkin's lymphomas (NHL), accounting for 91% of cases. Nodal disease was seen in 39% of cases. The bone (prominently, the jaws) predominated (25%) in extranodal lesions. Burkitt's lymphoma was the most common specific subtype of NHL, occurring in 25.5% of cases. Conclusion: There has been an apparent upward trend in the prevalence of HNL over the past four decades, although other parameters such as age and sex predilection appear unaffected. Factors responsible for this trend need to be interrogated and ascertained.
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BACKGROUND: Fine-needle aspiration cytology (FNAC) is widely employed as an initial investigative tool in the diagnosis of various lesions in the body, however, it is limited in the provision of precise architectural detail of lesions. This is said to be responsible for the wide variation in the documented usefulness and accuracy relative to histopathology. This study aimed to correlate cytopathological and histopathological examination (HPE) of head and neck lesions, and assess the usefulness and accuracy of FNAC in our center. MATERIALS AND METHODS: This was a retrospective study that utilized historical data obtained from case notes and histopathology records of 91 patients that had both FNAC and HPE done for head and neck lesions in our center during the study. The FNAC results were correlated with that of the histopathological diagnosis to obtain the accuracy of the FNAC diagnosis. Diagnostic validity of FNAC in terms of sensitivity, specificity, and predictive value were also evaluated. RESULTS: A total of 91 FNAC-HPE sample pairs were included. The Sensitivity and specificity for benign lesion was 95.4% and 42.3%, respectively, while for sensitivity and specificity for malignant lesion was 31.8% and 96.9%, respectively. The overall Sensitivity and specificity for cytology was 96.8% and 30.4%, respectively. CONCLUSION: FNAC appears to be a useful tool in the initial assessment of head and neck lesions in our center, however, the high rate of missed diagnosis especially as concerned malignancies has dire negative treatment implications. There is need to develop capacity for improved skill in making cytopathologic diagnoses among anatomical pathologists involved in the use of FNAC as diagnostic and screening tool.
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BACKGROUND: Meningiomas are the second commonest intracranial tumors in many places worldwide. They are rare in the pediatric age group, however, and most studies have been able to document only a few patients. Meningiomas in pediatric patients have also been shown to behave differently from those in the adult population. This study was done to examine histologic types of meningiomas seen in pediatric patients from a predominantly African population using the 2016 World Health Organization (WHO) grading system for intracranial tumors. METHODS: Data from the operating logs of patients and histology reports of the samples sent to the pathology department during the study period were extracted. The data obtained were the age, sex, location of the intracranial tumor, histologic diagnosis, WHO grade, and tumor recurrence. RESULTS: Nine pediatric age patients were found among the 166 surgically excised meningiomas received at the pathology department in our institution over a 19-year period. The age range was from 8 months to 17 years. There was a male-to-female ratio of 1:2 with a female predominance. Six tumors were basally located. All tumors were WHO grade I with transitional meningiomas being the commonest followed by meningothelial. There was no history of recurrence in any of the tumors after complete surgical excisions. CONCLUSIONS: Our study showed the rarity of meningiomas in the study population, and there was a predominance of basally located tumors.
Assuntos
Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Neoplasias Meníngeas/epidemiologia , Neoplasias Meníngeas/patologia , Meningioma/epidemiologia , Meningioma/patologia , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Nigéria/epidemiologia , Prevalência , Estudos RetrospectivosRESUMO
The original version of this Article contained an error in the author affiliations. The affiliation of Kevin P. White with Tempus Labs, Inc. Chicago, IL, USA was inadvertently omitted. This has now been corrected in both the PDF and HTML versions of the Article.