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1.
Med. lab ; 27(1): 51-64, 2023. ilus, Tabs
Artigo em Espanhol | LILACS | ID: biblio-1414243

RESUMO

El virus de Epstein-Barr (VEB) fue el primer virus asociado a neoplasias en humanos. Infecta el 95 % de la población mundial, y aunque usualmente es asintomático, puede causar mononucleosis infecciosa y se relaciona con más de 200.000 casos de neoplasias al año. De igual forma, se asocia con esclerosis múltiple y otras enfermedades autoinmunes. A pesar de ser catalogado como un virus oncogénico, solo un pequeño porcentaje de los individuos infectados desarrollan neoplasias asociadas a VEB. Su persistencia involucra la capacidad de alternar entre una serie de programas de latencia, y de reactivarse cuando tiene la necesidad de colonizar nuevas células B de memoria, con el fin de sostener una infección de por vida y poder transmitirse a nuevos hospederos. En esta revisión se presentan las generalidades del VEB, además de su asociación con varios tipos de neoplasias, como son el carcinoma nasofaríngeo, el carcinoma gástrico, el linfoma de Hodgkin y el linfoma de Burkitt, y la esclerosis múltiple. Adicionalmente, se describen los mecanismos fisiopatológicos de las diferentes entidades, algunos de ellos no completamente dilucidados


Epstein-Barr virus (EBV) was the first virus associated with human cancer. It infects 95% of the world's population, and although it is usually asymptomatic, it causes infectious mononucleosis. It is related to more than 200,000 cases of cancer per year, and is also associated with multiple sclerosis and other autoimmune diseases. Despite being classified as an oncogenic virus, only a small percentage of infected individuals develop EBV-associated cancer. Its persistence involves the ability to alternate between a series of latency programs, and the ability to reactivate itself when it needs to colonize new memory B cells, in order to sustain a lifelong infection and be able to transmit to new hosts. In this review, the general characteristics of EBV are presented, in addition to its association with various types of cancers, such as nasopharyngeal carcinoma, gastric carcinoma, Hodgkin's lymphoma and Burkitt's lymphoma, and multiple sclerosis. Additionally, the pathophysiological mechanisms of the different entities are described, some of them not completely elucidated yet


Assuntos
Humanos , Herpesvirus Humano 4/fisiologia , Infecções por Vírus Epstein-Barr/complicações , Neoplasias Gástricas/fisiopatologia , Neoplasias Gástricas/virologia , Doença de Hodgkin/fisiopatologia , Doença de Hodgkin/virologia , Neoplasias Nasofaríngeas/fisiopatologia , Neoplasias Nasofaríngeas/virologia , Linfoma de Burkitt/fisiopatologia , Linfoma de Burkitt/virologia , Carcinogênese , Carcinoma Nasofaríngeo/fisiopatologia , Carcinoma Nasofaríngeo/virologia , Esclerose Múltipla/fisiopatologia , Esclerose Múltipla/virologia
2.
Rev. venez. oncol ; 33(1): 40-45, mar. 2021. ilus
Artigo em Espanhol | LIVECS, LILACS | ID: biblio-1147477

RESUMO

El linfoma de Burkitt es una neoplasia altamente agresiva y es un tipo raro de linfoma no Hodgkin localizado. Aunque los niños son los más frecuentemente afectados, en adultos ocurren principalmente durante el embarazo o el puerperio. La mama rara vez constituye la localización primaria del linfoma no Hodgkin. Se presenta un caso de linfoma de Burkitt primario de mama durante el embarazo. Paciente de 37 años con embarazo de 24 semanas quien presentó aumento de volumen difuso de mama derecha. La mama estaba aumentada de tamaño, dolorosa y homogénea con tumoración elástica y firme. La ecografía demostró inflamación difusa con tumoración heterogénea e hipoecoica con contornos ligeramente irregulares, marcadores tumorales estaban normales las pruebas serológicas fueron negativas. La biopsia de la lesión mostró tejido mamario reemplazado por células linfoideas de tamaño mediano con citoplasma basófilo y múltiples vacuolas. Estudios inmunohistoquímicos fueron positivos para el antígeno leucocitario común, CD10, CD20, CD43, Bcl-6. El análisis cromosómico reveló que más del 90 % de las células neoplásicas exhibieron translocación t llevando al diagnóstico final de linfoma de Burkitt de mama. Luego de evaluar las posibilidades terapéuticas y del consentimiento de la paciente se inició tratamiento citostático sistémico. Los linfomas primarios de mama son extremadamente raros. El linfoma de Burkitt primario de la mama es mucho menos común que los otros linfomas. Los métodos de clasificación, detección y tratamiento de esta afección siguen siendo objeto de debates e investigaciones(AU)


The Burkitt's lymphoma is a highly aggressive neoplasm and is a rare type of localized non-Hodgkin lymphoma. Although children are the most frequently affected, in adults they occur mainly during the pregnancy or the puerperium. The breast rarely constitutes the primary location for non-Hodgkin lymphoma. The study of a case of primary Burkitt lymphoma of the breast during pregnancy is presented. This is a 37 year old patient with a 24 week pregnancy who presented a diffuse increase in the volume of the right breast. The breast was enlarged, painful and homogeneous with a firm, elastic mass. The ultrasonography showed diffuse inflammation with a heterogeneous and hypoechoic tumor with slightly irregular contours. The tumor marker values were normal and the serological tests were negative. The biopsy of the lesion showed breast tissue replaced by medium-sized lymphoid cells with basophilic cytoplasm and multiple vacuoles. Immunohistochemically studies were positive for the common leukocyte antigen, CD10, CD20, CD43, Bcl-6. The chromosomal analysis revealed that more than 90 % of neoplastic cells exhibited t translocation leading to the final diagnosis of Burkitt lymphoma of the breast. After evaluating the therapeutic possibilities and the patient's consent, systemic cytostatic treatment was started. Primary breast lymphomas are extremely rare. The primary Burkitt lymphoma of the breast is much less common than other lymphomas. The methods of classification, detection, and the treatment of this condition continue to be the subject of debate and research(AU)


Assuntos
Humanos , Feminino , Adulto , Linfoma não Hodgkin , Neoplasias da Mama , Linfoma de Burkitt/fisiopatologia , Células Precursoras de Linfócitos B , Vincristina/uso terapêutico , Prednisona/uso terapêutico , Doxorrubicina/uso terapêutico , Tomografia Computadorizada por Raios X , Ciclofosfamida/uso terapêutico , Rituximab/uso terapêutico
4.
Apoptosis ; 26(1-2): 96-110, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33387145

RESUMO

Burkitt's lymphoma (BL) is the fastest growing human tumor. Current treatment consists of a multiagent regimen of cytotoxic drugs with serious side effjects including tumor lysis, cardiotoxicity, hepatic impairment, neuropathy, myelosuppression, increased susceptibility to malignancy, and death. Furthermore, therapeutic interventions in areas of BL prevalence are not as feasible as in high-income countries. Therefore, there exists an urgent need to identify new therapies with a safer profile and improved accessibility. Triclosan (TCS), an antimicrobial used in personal care products and surgical scrubs, has gained considerable interest as an antitumor agent due to its interference with fatty acid synthesis. Here, we investigate the antitumor properties and associated molecular mechanisms of TCS in BL-derived BJAB cells. Dose-dependent cell death was observed following treatment with 10-100 µM TCS for 24 h, which was associated with membrane phospholipid scrambling, compromised permeability, and cell shrinkage. TCS-induced cell death was accompanied by elevated intracellular calcium, perturbed redox balance, chromatin condensation, and DNA fragmentation. TCS upregulated Bad expression and downregulated that of Bcl2. Moreover, caspase and JNK MAPK signaling were required for the full apoptotic activity of TCS. In conclusion, this report identifies TCS as an antitumor agent and provides new insights into the molecular mechanisms governing TCS-induced apoptosis in BL cells.


Assuntos
Antineoplásicos/farmacologia , Apoptose/efeitos dos fármacos , Linfoma de Burkitt/fisiopatologia , Triclosan/farmacologia , Antineoplásicos/análise , Linfoma de Burkitt/genética , Linfoma de Burkitt/metabolismo , Cálcio/metabolismo , Fragmentação do DNA/efeitos dos fármacos , Humanos , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Triclosan/análise , Células Tumorais Cultivadas
5.
Mol Med Rep ; 23(2)2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33325535

RESUMO

Burkitt lymphoma (BL) has a high mortality rate and its treatment is currently limited to chemotherapy combined with immunotherapy. The long non­coding RNA antisense non­coding RNA in the INK4 locus (ANRIL) has been identified as an oncogene that can regulate cell proliferation and apoptosis in multiple types of cancer. However, the function of ANRIL in BL remains unknown. The present study aimed to determine the effect of ANRIL on cell proliferation and apoptosis in BL. Reverse transcription­quantitative PCR was used to analyze the expression levels of ANRIL in BL cells. The effect of ANRIL knockdown on BL cells was determined using Cell Counting Kit­8, flow cytometric, western blotting, immunofluorescence staining and Hoechst staining assays. The results revealed that ANRIL silencing inhibited the proliferation and promoted the apoptosis of BL cells. In addition, the expression levels of cyclin D1, E2F transcription factor 1 and Bcl­2 were downregulated, while the expression levels of cyclin­dependent kinase inhibitor 1A, Bcl­2­associated X protein, cleaved­caspase­9/pro­caspase­9 and cleaved­caspase­3/pro­caspase­3 were upregulated. Furthermore, the knockdown of ANRIL activated the TGF­ß1 signaling pathway, as evidenced by the upregulated expression levels of TGF­ß1, phosphorylated (p)­SMAD2/3/SMAD2/3, p­SMAD1/SMAD1 and sphingosine­1­phosphate receptor 2. Moreover, the protective effect of ANRIL silencing in BL could be inhibited by the TGF­ß receptor type I/II dual inhibitor, LY2109761. In conclusion, the findings of the present study suggested that the knockdown of ANRIL may inhibit cell proliferation and promote cell apoptosis in BL by regulating the TGF­ß1 signaling pathway, which may provide a novel target for the treatment of BL.


Assuntos
Apoptose , Linfoma de Burkitt/genética , Proliferação de Células , RNA Longo não Codificante/metabolismo , Transdução de Sinais , Fator de Crescimento Transformador beta1/metabolismo , Linfoma de Burkitt/metabolismo , Linfoma de Burkitt/fisiopatologia , Linhagem Celular Tumoral , Ciclina D1/genética , Inibidor de Quinase Dependente de Ciclina p21/genética , Fator de Transcrição E2F1/genética , Regulação Neoplásica da Expressão Gênica , Técnicas de Silenciamento de Genes , Humanos , RNA Longo não Codificante/genética , RNA Longo não Codificante/fisiologia , Fator de Crescimento Transformador beta1/genética , Proteína X Associada a bcl-2/genética
6.
Medicine (Baltimore) ; 99(52): e23853, 2020 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-33350777

RESUMO

INTRODUCTION: The association of human immunodeficiency virus (HIV) infection with Burkitt lymphoma is related to the presence of Epstein Barr virus infection and the impact of the HIV antigen on the expansion of B-polyclonal cells. In Southeast Europe, the association is rare, and recognizing this is important in the therapeutic decision to increase patient survival rate. The association of HIV with Burkitt lymphoma and tuberculosis is even more rarely described in the literature. PATIENT CONCERNS: We present the case of a 40-year-old patient who presented with a 3-week history of fever (max. 38.7 °C), painful axillary swelling on the right side, lumbar pain, gait disorders, headache, and night sweats. Clinical manifestations included marked weight loss (about 30 kg in the last 2 months before his admission). DIAGNOSIS: A LyCD4 count of 38/µL and a HIV1 viral load of 384,000/mm3, classified the patient into a C3 stage. A biopsy of the right axillary lymph node was performed for suspected ganglionic tuberculosis due to immunodeficiency. Histopathological examination confirmed the diagnosis of Burkitt lymphoma. Cultures on Löwenstein-Jensen medium from sputum harvested at first admission were positive for Mycobacterium tuberculosis. INTERVENTIONS: Highly active antiretroviral therapy, chemotherapeutic agents for Burkitt lymphoma, anti-tuberculous drug therapy, neurosurgical intervention of spinal cord decompression, and antibiotic therapy of the associated bacterial infection. OUTCOME: Burkitt lymphoma disseminated rapidly, with central nervous system, spinal cord, osteomuscular, adrenal, and spleen involvement. The evolution under treatment was unfavorable, with patient death occurring 6 months after diagnosis. CONCLUSIONS: The association of HIV infection with Burkitt lymphoma and tuberculosis is rare in the highly active antiretroviral therapy (HAART) era, posing prompt and multidisciplinary therapeutic management issues. Similar cases of HIV-TB and Burkitt lymphoma association have been described, but none of the other cases showed the involvement of the central nervous system or of the bilateral adrenal glands.


Assuntos
Antineoplásicos/administração & dosagem , Terapia Antirretroviral de Alta Atividade/métodos , Antituberculosos/administração & dosagem , Encéfalo , Linfoma de Burkitt , Infecções por HIV , Medula Espinal , Tuberculose Pulmonar , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Linfoma de Burkitt/complicações , Linfoma de Burkitt/patologia , Linfoma de Burkitt/fisiopatologia , Linfoma de Burkitt/cirurgia , Contagem de Linfócito CD4/métodos , Deterioração Clínica , Descompressão Cirúrgica/métodos , Evolução Fatal , Infecções por HIV/sangue , Infecções por HIV/complicações , Infecções por HIV/diagnóstico , Infecções por HIV/tratamento farmacológico , Humanos , Masculino , Procedimentos Neurocirúrgicos/métodos , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Medula Espinal/cirurgia , Tuberculose Pulmonar/complicações , Tuberculose Pulmonar/fisiopatologia , Tuberculose Pulmonar/terapia , Carga Viral/métodos
7.
J Infect Dis ; 222(1): 111-120, 2020 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-32072172

RESUMO

BACKGROUND: Endemic Burkitt lymphoma (eBL) is associated with Epstein-Barr virus (EBV) and Plasmodium falciparum malaria coinfections. However, the role of Kaposi sarcoma-associated herpesvirus (KSHV), also endemic in Africa, has not been evaluated as a cofactor in eBL pathogenesis. METHODS: Multiplexed seroprofiles for EBV, malaria, and KSHV were generated for 266 eBL patients, 78 non-eBL cancers, and 202 healthy children. KSHV and EBV loads were quantified by PCR. RESULTS: KSHV seroprevalence did not differ by study group but was associated with age. Seropositivity, defined by K8.1/LANA or in combination with 5 other KSHV antigens (ORF59, ORF65, ORF61, ORF38, and K5) was associated with antimalarial antibody levels to AMA1 (odds ratio [OR], 2.41, P < .001; OR, 2.07, P < .001) and MSP1 (OR, 2.41, P = .0006; OR, 5.78, P < .001), respectively. KSHV loads did not correlate with antibody levels nor differ across groups but were significantly lower in children with detectable EBV viremia (P = .014). CONCLUSIONS: Although KSHV-EBV dual infection does not increase eBL risk, EBV appears to suppress reactivation of KSHV while malaria exposure is associated with KSHV infection and/or reactivation. Both EBV and malaria should, therefore, be considered as potential effect modifiers for KSHV-associated cancers in sub-Saharan Africa.


Assuntos
Linfoma de Burkitt/etiologia , Linfoma de Burkitt/genética , Infecções por Herpesviridae/etiologia , Infecções por Herpesviridae/genética , Herpesviridae/genética , Sarcoma de Kaposi/complicações , Sarcoma de Kaposi/genética , Adolescente , Fatores Etários , Linfoma de Burkitt/epidemiologia , Linfoma de Burkitt/fisiopatologia , Criança , Pré-Escolar , Coinfecção , Feminino , Infecções por Herpesviridae/epidemiologia , Infecções por Herpesviridae/fisiopatologia , Humanos , Lactente , Quênia/epidemiologia , Masculino , Sarcoma de Kaposi/epidemiologia , Sarcoma de Kaposi/fisiopatologia , Estudos Soroepidemiológicos
8.
J Am Assoc Nurse Pract ; 32(5): 354-356, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31425376

RESUMO

Fever of unknown origin (FUO) continues to present a clinical conundrum for even expert practitioners. The syndrome of FUO has over 200 possible etiologies. Burkitt lymphoma (BL) is a highly aggressive B-cell non-Hodgkin lymphoma with only 1,200 US adult cases reported annually. Fever, night sweats, and weight loss, otherwise known as B symptoms, are common early symptoms of BL. Nerve palsy, especially isolated hypoglossal nerve palsy (IHNP), is rarely seen as a presenting sign in any pathological condition. A case report of FUO and IHNP as the presenting manifestations of BL is presented. The rarity of IHNP and its clinical features delayed the recognition of this syndrome and emphasizes the value of a thorough understanding of the physical examination and the association of unusual clinical findings with a readily identifiable clinical syndrome.


Assuntos
Linfoma de Burkitt/complicações , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/fisiopatologia , Diagnóstico Diferencial , Febre de Causa Desconhecida/etiologia , Febre de Causa Desconhecida/fisiopatologia , Humanos , Doenças do Nervo Hipoglosso/etiologia , Doenças do Nervo Hipoglosso/fisiopatologia , Masculino , Pessoa de Meia-Idade
9.
Rinsho Ketsueki ; 60(3): 155-164, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31068510

RESUMO

The outcome of double-hit lymphoma (DHL) defined by concurrent rearrangements of MYC and BCL2 and/or BCL6 is extremely poor than that of diffuse large B-cell lymphoma (DLBCL). Patients with DHL are usually resistant to R-CHOP therapy and show a highly aggressive clinical course frequently involving the extranodal sites, such as the bone marrow, peripheral blood, pleural effusion, and central nervous system (CNS). However, several retrospective studies conducted recently have demonstrated a relatively favorable outcome with intensive chemotherapy, such as dose-adjusted EPOCH-R, than those receiving R-CHOP in patients with DHL. "Double expressor status" with concomitant expression of MYC and BCL2 protein by immunohistochemistry in DLBCL is considered a poor prognostic biomarker and has been associated with high risk of CNS relapse. Therefore, to reduce these risks, CNS-directed evaluation and consideration of CNS-prophylactic strategies should be performed in patients with double expressor lymphoma. This chapter reviews the clinical and pathological features, prognosis, treatment strategies, and new insights in MYC-associated B-cell lymphoma, such as Burkitt lymphoma.


Assuntos
Linfoma de Burkitt/fisiopatologia , Linfoma de Burkitt/terapia , Linfoma Difuso de Grandes Células B/fisiopatologia , Linfoma Difuso de Grandes Células B/terapia , Proteínas Proto-Oncogênicas c-myc/genética , Anticorpos Monoclonais Murinos , Protocolos de Quimioterapia Combinada Antineoplásica , Ciclofosfamida , Doxorrubicina , Etoposídeo , Humanos , Imuno-Histoquímica , Recidiva Local de Neoplasia , Prednisona , Proteínas Proto-Oncogênicas c-bcl-2 , Proteínas Proto-Oncogênicas c-bcl-6 , Rituximab , Vincristina
10.
J Emerg Med ; 57(1): e13-e16, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31003819

RESUMO

BACKGROUND: Most pediatric patients with lymphoma do not have classic symptoms of fever, night sweats, and weight loss. Lymphoma can present as vague symptoms and may mimic common pediatric abdominal emergencies. In this case report, we present a child who presented with abdominal pain and who was initially misdiagnosed as having a surgical emergency. CASE REPORT: An 11-year-old previously healthy male was referred to the pediatric emergency department after he presented to an outside hospital with 3 days of right lower quadrant pain and 1 episode of diarrhea. The initial concern was appendicitis. He had a computed tomography scan of the abdomen and pelvis that showed thickening of the bowel wall, peritoneal thickening, and a right pleural effusion. His laboratory assessments were only notable for a mildly elevated lactate dehydrogenase level of 506 units/L. He had a colonoscopy, and biopsy specimens obtained from the terminal ileum and cecum were negative. He developed worsening symptoms, and subsequently underwent laparoscopic biopsy procedures of the omentum and terminal ileum, which were consistent with Burkitt lymphoma. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: We discuss the important oncologic findings of pediatric lymphoma, including oncologic emergencies and important laboratory and imaging tests that providers should consider while in the emergency department. This case highlights how pediatric lymphoma can mimic common pediatric pathologies providers often encounter in the emergency department.


Assuntos
Linfoma de Burkitt/complicações , Linfoma de Burkitt/diagnóstico , Dor Abdominal/etiologia , Biópsia/métodos , Linfoma de Burkitt/fisiopatologia , Criança , Colonoscopia/métodos , Doença de Crohn/complicações , Doença de Crohn/diagnóstico , Doença de Crohn/fisiopatologia , Serviço Hospitalar de Emergência/organização & administração , Humanos , Masculino
11.
Afr Health Sci ; 19(4): 3242-3248, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32127902

RESUMO

INTRODUCTION: Burkitt's lymphoma (BL) is a virus associated childhood B-cell cancer common in Eastern Africa. Continued survival of B-cells in germinal centres depend on expression of high affinity immunoglobulins (Ig) to complementary antigens by somatic hypermutation of Ig genes. Cellular microRNAs, non-coding RNAs have been reported to play role in cell cycle regulation. Both viral antigen dependent mutation and micro-RNA expression maybe involved in BL pathogenesis. OBJECTIVE: To describe immunoglobulin heavy variable (IgHV) rearrangement and micro-RNA expressions in BL tumours. METHODS: Genomic DNA were extracted and purified from BL tissue blocks at Moi Teaching and Referral Hospital, before amplification using IgHV consensus primers and sequencing. The sequences were then aligned with germline alleles in IMGT/V-QUEST® database. Total RNA extracted from tissue blocks and cell lines were used to determine relative expression of hsamiR-34a and hsa-miR-127. RESULTS: In all tumours, allele alignment scores and number of mutations range were 89.2-93.2%, 15-24 respectively. The range of IgHV amino acid changes were higher in EBER-1+ (15-25) than EBER-1- (9-15). In MYC+ tumours, the relative expression were: hsa-miR-127(2.09);hsa-miR-34a (2.8) and MYC- hsa-miR-127 (1.2), hsa-miR-34a (1.0). CONCLUSION: B-cell in BL contained somatic mutated IgHV gene and upregulated cellular microRNAs with possible pathogenetic role(s).


Assuntos
Linfoma de Burkitt/genética , Linfoma de Burkitt/imunologia , Linfoma de Burkitt/fisiopatologia , Regulação Neoplásica da Expressão Gênica , Genes de Imunoglobulinas/imunologia , MicroRNAs/imunologia , Mutação , Linfoma de Burkitt/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Quênia/epidemiologia , Masculino
12.
Afr Health Sci ; 19(4): 3249-3252, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32127903

RESUMO

INTRODUCTION: Burkitt Lymphoma is the fastest growing tumor in human and the commonest of the childhood malignancies. Generalized lymphadenopathy is a common feature of immunodeficiency associated Burkitt lymphoma but an uncommon presentation of the endemic type in Human Immunodeficiency Virus (HIV) negative children. CASE PRESENTATION: The authors report a 6 year old HIV negative boy who presented with generalized lymphadenopathy, cough, weight loss, fever and drenching night sweat and had received native medication as well as treatment in private hospitals. His examination revealed hepatosplenomegaly, bull neck with generalized significant massive lymphadenopathy. Diagnosis was missed initially until a lymphnode biopsy for histology confirmed Burkitt lymphoma. He was managed on combination chemotherapy with complete resolution and now on follow up. CONCLUSION: To the best of our knowledge, this is the first documented report of its kind of endemic Burkitt lymphoma involving lymphnodes generally as the primary site. High index of suspicion and early biopsy are the key in this uncommon presentation.


Assuntos
Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/tratamento farmacológico , Linfoma de Burkitt/fisiopatologia , Linfadenopatia/diagnóstico , Linfadenopatia/tratamento farmacológico , Linfadenopatia/fisiopatologia , Antimetabólitos Antineoplásicos/uso terapêutico , Antineoplásicos Alquilantes/uso terapêutico , Antineoplásicos Hormonais/uso terapêutico , Antineoplásicos Fitogênicos/uso terapêutico , Criança , Ciclofosfamida/uso terapêutico , Humanos , Masculino , Metotrexato/uso terapêutico , Nigéria , Prednisolona/uso terapêutico , Resultado do Tratamento , Vincristina/uso terapêutico
13.
Am J Med Genet A ; 179(1): 113-117, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30569626

RESUMO

Kabuki syndrome (KS) is an extremely rare genetic disorder, mainly caused by germline mutations at specific epigenetic modifier genes, including KMT2D. Because the tumor suppressor gene KMT2D is also frequently altered in many cancer types, it has been suggested that KS may predispose to the development of cancer. However, KS being a rare disorder, few data are available on the incidence of cancer in KS patients. Here, we report the case of a 5-year-old boy affected by KS who developed Burkitt lymphoma (BL). Genetic analysis revealed the presence of a novel heterozygous mutation in the splice site of the intron 4 of KMT2D gene in both peripheral blood-extracted DNA and tumour cells. In addition, the tumour sample of the patient was positive for the classical somatic chromosomal translocation t(8;14) involving the c-MYC gene frequently identified in BL. We propose that the mutated KMT2D gene contributes to the development of both KS and BL observed in our patient and we suggest that strict surveillance must be performed in KS patients.


Assuntos
Anormalidades Múltiplas/genética , Linfoma de Burkitt/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Doenças Hematológicas/genética , Proteínas de Neoplasias/genética , Isoformas de Proteínas/genética , Doenças Vestibulares/genética , Anormalidades Múltiplas/fisiopatologia , Linfoma de Burkitt/complicações , Linfoma de Burkitt/fisiopatologia , Pré-Escolar , Face/fisiopatologia , Doenças Hematológicas/complicações , Doenças Hematológicas/fisiopatologia , Humanos , Masculino , Mutação , Proteínas Proto-Oncogênicas c-myc/genética , Translocação Genética/genética , Doenças Vestibulares/complicações , Doenças Vestibulares/fisiopatologia
14.
J Med Case Rep ; 12(1): 285, 2018 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-30286805

RESUMO

BACKGROUND: It is not unusual for systemic diseases to mimic sepsis and, in any case, the clinician should thoroughly investigate this possibility. CASE PRESENTATION: We present the case of a 21-year-old Greek woman who presented to the Intensive Care Unit of our hospital with severe septic shock - multiple organ failure as a result of a suspected gynecological infection of the ovaries. An immediate improvement of her clinical condition in combination with strong clinical suspicion and negative cultures led to the differential diagnosis of diseases other than sepsis. Based on the results of the biopsies that were obtained by research laparotomy, our patient suffered from primary Burkitt ovarian lymphoma. Her clinical condition improved with supportive treatment and chemotherapy. Chemotherapy is the dominant treatment for Burkitt's lymphoma, while surgery or radiotherapy has no place. CONCLUSIONS: All intensivists should be aware of clinical conditions that mimic sepsis as early diagnosis can lead to appropriate therapy and avoid unnecessary diagnostic tests and antibiotic abuse.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Biópsia/métodos , Linfoma de Burkitt , Neoplasias Ovarianas , Ovário/patologia , Choque Séptico/diagnóstico , Linfoma de Burkitt/patologia , Linfoma de Burkitt/fisiopatologia , Linfoma de Burkitt/terapia , Diagnóstico Diferencial , Detecção Precoce de Câncer/métodos , Feminino , Humanos , Laparotomia/métodos , Insuficiência de Múltiplos Órgãos/diagnóstico , Insuficiência de Múltiplos Órgãos/etiologia , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/fisiopatologia , Neoplasias Ovarianas/terapia , Resultado do Tratamento , Adulto Jovem
16.
Clin Nucl Med ; 43(4): e130-e131, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29401143

RESUMO

We report a case of Burkitt lymphoma with largely extranodal disease localizations at staging. Chemotherapy was given, thus obtaining a complete metabolic response in all previous disease sites as shown at a control PET, however associated to the appearance of new focal uptake areas in the liver; these findings were confirmed at US and MRI. Chemotherapy determined also neutropenia that was treated by filgrastim, followed by a prompt and important medullary response. Liver biopsy revealed extramedullary hematopoiesis, probably filgrastim induced. Filgrastim administration may cause false-positive findings in the liver at FDG PET.


Assuntos
Linfoma de Burkitt/diagnóstico por imagem , Linfoma de Burkitt/fisiopatologia , Filgrastim/farmacologia , Fluordesoxiglucose F18 , Hematopoese/efeitos dos fármacos , Fígado/efeitos dos fármacos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Adulto , Linfoma de Burkitt/patologia , Reações Falso-Positivas , Humanos , Fígado/fisiopatologia , Masculino , Estadiamento de Neoplasias
17.
Hematology ; 22(5): 265-273, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27981896

RESUMO

BACKGROUND: Burkitt lymphoma (BL) represents the most common pathological type of non-Hodgkin lymphoma in our region. Recently, high success rates have been achieved in BL treatment. Little is known about long-term renal dysfunction in this vulnerable group. In the present study, we tried to detect early chronic kidney diseases (CKD) among BL survivors by using novel screening modalities. PATIENTS AND METHODS: we investigated 53 children (aged 10 ± 2.8 years, 34 boys) who successfully treated for Burkitt lymphoma, based on LMB96 protocol, as "patient group" and 30 children as control. All eligible participants were subjected to history taking, physical assessment, and routine laboratory investigations including urine analysis, serum creatinine. Estimated glomerular filtration rates using new Schwartz formula (GFRCKD) were calculated and chronic kidney disease prevalence was diagnosed accordingly. Also, serum Cystatin-C (Cys-C) and neutrophil-gelatinase-associated Lipocalin (NGAL) were determined as novel markers aiming at early and accurate detection of CKD in BL survivors. RESULTS: After 18.3 ± 5.2 months of BL cytotoxic therapy completion, almost one fifth of asymptomatic BL survivors showed evidence of subclinical CKD when estimated GFRCKD (16.9%), serum Cystatin-C (15%) and serum neutrophil-gelatinase-associated Lipocalin (18.8%) were used for kidney function monitoring. This prevalence was four to fivefolds higher than that detected by routine serum creatinine screening (3.7%). Significant persistent albuminuria was diagnosed at 4/53 (7.5.3%) of BL survivors and asymptomatic hypertension was reported in 1/53 (1.9%) of them compared to none of the controls. Positive correlation could be displayed between serum Cys-C and serum NGAL. Conversely, negative correlations between both of them and estimated GFRCKD were documented. CONCLUSION: Novel modalities such new Schwartz formula (GFRCKD) estimation, serum Cys-C, and serum NGAL assessment should be incorporated in the routine follow-up screening for CKD among BL survivors for accurate diagnosis of such detrimental morbidity.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Linfoma de Burkitt/sangue , Linfoma de Burkitt/tratamento farmacológico , Cistatina C/sangue , Nefropatias/sangue , Lipocalina-2/sangue , Sobreviventes , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Biomarcadores/sangue , Linfoma de Burkitt/fisiopatologia , Criança , Pré-Escolar , Feminino , Taxa de Filtração Glomerular/efeitos dos fármacos , Humanos , Nefropatias/induzido quimicamente , Nefropatias/fisiopatologia , Masculino
18.
Curr Opin Virol ; 20: 78-84, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27689909

RESUMO

Burkitt lymphoma (BL) is >90% EBV-associated when this pediatric cancer is diagnosed in regions heavily burden by endemic Plasmodium falciparum malaria and thus has been geographically classified as endemic BL. The incidence of endemic BL is 10-fold higher compared to BL diagnosed in non-malarious regions of the world. The other forms of BL have been classified as sporadic BL which contain EBV in ∼30% of cases and immunodeficiency BL which occurs in HIV-infected adults with ∼40% of tumors containing EBV. Within malaria endemic regions, epidemiologic studies replicating Denis Burkitt's seminal observation continue to show differences in endemic BL incidence linked to intensity of malaria transmission. However, the mechanisms by which malaria contributes to B cell tumorigenesis have not been resolved to the point of designing cancer prevention strategies. The focus of this review is to summarize our current knowledge regarding the influence of prolonged, chronic malaria exposure on defects in immunosurveillance that would otherwise control persistent EBV infections. And thus, set the stage for ensuing mechanisms by which malaria could instigate B cell activation and aberrant activation-induced cytidine deaminase expression initiating somatic hypermutation and thereby increasing the likelihood of an Ig/Myc translocation, the hallmark of all BL tumors. Malaria appears to play multiple, sequential and simultaneous roles in endemic BL etiology; the complexity of these interactions are being revealed by applying computational methods to human immunology. Remaining questions yet to be addressed and prevention strategies will also be discussed.


Assuntos
Linfoma de Burkitt/epidemiologia , Linfoma de Burkitt/fisiopatologia , Infecções por Vírus Epstein-Barr/complicações , Malária Falciparum/complicações , Plasmodium falciparum/patogenicidade , Humanos , Incidência
20.
Rev. esp. cir. oral maxilofac ; 37(1): 44-47, ene.-mar. 2015. ilus
Artigo em Espanhol | IBECS | ID: ibc-132512

RESUMO

Los linfomas no Hodgkin (LNH) son un grupo heterogéneo de enfermedades linfoproliferativas con elevada prevalencia en pacientes infectados por el virus de la inmunodeficiencia humana (VIH). La inmunodeficiencia asociada al sida predispone al desarrollo de LNH, incluyendo el linfoma de Burkitt (LB). El LB es un subtipo infrecuente y agresivo de LNH con elevada frecuencia en pacientes con sida. Se asocia a una alta tasa de replicación celular (determinada por el índice Ki67) y con alta frecuencia de compromiso extranodal como forma de presentación clínica de la neoplasia. Se presenta una paciente con sida que desarrolló un LB primario de la cavidad oral y se realiza una revisión de la literatura sobre el tema (AU)


Non-Hodgkin lymphomas (NHL) are a heterogeneous group of diseases with a high prevalence in human immunodeficiency virus (HIV) infected patients. The immunosuppression associated with AIDS predisposes to develop NHL, including Burkitt's lymphoma (BL). BL is an uncommon and aggressive subtype of NHL that occurs with increased frequency among patients with AIDS. BL is associated with a high proliferative rate (Ki67 index) and compromises extranodal sites as the clinical presentation of the disease. Here we report a case of a primary BL of the oral cavity in an AIDS female patient, and a review the literature on the characteristics of oral cavity lymphomas in AIDS patients (AU)


Assuntos
Humanos , Feminino , Adulto , Linfoma de Burkitt/complicações , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/tratamento farmacológico , Síndrome de Imunodeficiência Adquirida/complicações , Anti-Inflamatórios/uso terapêutico , Antibacterianos/uso terapêutico , Combinação Amoxicilina e Clavulanato de Potássio/uso terapêutico , Prednisona/uso terapêutico , Linfoma de Burkitt/fisiopatologia , Linfoma de Burkitt , Boca/patologia , Boca , Neoplasias Bucais/complicações , Neoplasias Bucais/tratamento farmacológico , Vincristina/uso terapêutico , Ciclofosfamida/uso terapêutico , Diagnóstico Diferencial
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