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1.
Med. lab ; 27(1): 51-64, 2023. ilus, Tabs
Article in Spanish | LILACS | ID: biblio-1414243

ABSTRACT

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


Subject(s)
Humans , Herpesvirus 4, Human/physiology , Epstein-Barr Virus Infections/complications , Stomach Neoplasms/physiopathology , Stomach Neoplasms/virology , Hodgkin Disease/physiopathology , Hodgkin Disease/virology , Nasopharyngeal Neoplasms/physiopathology , Nasopharyngeal Neoplasms/virology , Burkitt Lymphoma/physiopathology , Burkitt Lymphoma/virology , Carcinogenesis , Nasopharyngeal Carcinoma/physiopathology , Nasopharyngeal Carcinoma/virology , Multiple Sclerosis/physiopathology , Multiple Sclerosis/virology
2.
Rev. venez. oncol ; 33(1): 40-45, mar. 2021. ilus
Article in Spanish | LIVECS, LILACS | ID: biblio-1147477

ABSTRACT

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)


Subject(s)
Humans , Female , Adult , Lymphoma, Non-Hodgkin , Breast Neoplasms , Burkitt Lymphoma/physiopathology , Precursor Cells, B-Lymphoid , Vincristine/therapeutic use , Prednisone/therapeutic use , Doxorubicin/therapeutic use , Tomography, X-Ray Computed , Cyclophosphamide/therapeutic use , Rituximab/therapeutic use
4.
Apoptosis ; 26(1-2): 96-110, 2021 02.
Article in English | MEDLINE | ID: mdl-33387145

ABSTRACT

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.


Subject(s)
Antineoplastic Agents/pharmacology , Apoptosis/drug effects , Burkitt Lymphoma/physiopathology , Triclosan/pharmacology , Antineoplastic Agents/analysis , Burkitt Lymphoma/genetics , Burkitt Lymphoma/metabolism , Calcium/metabolism , DNA Fragmentation/drug effects , Humans , MAP Kinase Signaling System/drug effects , Proto-Oncogene Proteins c-bcl-2/genetics , Proto-Oncogene Proteins c-bcl-2/metabolism , Reactive Oxygen Species/metabolism , Triclosan/analysis , Tumor Cells, Cultured
5.
Mol Med Rep ; 23(2)2021 02.
Article in English | MEDLINE | ID: mdl-33325535

ABSTRACT

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.


Subject(s)
Apoptosis , Burkitt Lymphoma/genetics , Cell Proliferation , RNA, Long Noncoding/metabolism , Signal Transduction , Transforming Growth Factor beta1/metabolism , Burkitt Lymphoma/metabolism , Burkitt Lymphoma/physiopathology , Cell Line, Tumor , Cyclin D1/genetics , Cyclin-Dependent Kinase Inhibitor p21/genetics , E2F1 Transcription Factor/genetics , Gene Expression Regulation, Neoplastic , Gene Knockdown Techniques , Humans , RNA, Long Noncoding/genetics , RNA, Long Noncoding/physiology , Transforming Growth Factor beta1/genetics , bcl-2-Associated X Protein/genetics
6.
Medicine (Baltimore) ; 99(52): e23853, 2020 Dec 24.
Article in English | MEDLINE | ID: mdl-33350777

ABSTRACT

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.


Subject(s)
Antineoplastic Agents/administration & dosage , Antiretroviral Therapy, Highly Active/methods , Antitubercular Agents/administration & dosage , Brain , Burkitt Lymphoma , HIV Infections , Spinal Cord , Tuberculosis, Pulmonary , Adult , Brain/diagnostic imaging , Brain/pathology , Burkitt Lymphoma/complications , Burkitt Lymphoma/pathology , Burkitt Lymphoma/physiopathology , Burkitt Lymphoma/surgery , CD4 Lymphocyte Count/methods , Clinical Deterioration , Decompression, Surgical/methods , Fatal Outcome , HIV Infections/blood , HIV Infections/complications , HIV Infections/diagnosis , HIV Infections/drug therapy , Humans , Male , Neurosurgical Procedures/methods , Spinal Cord/diagnostic imaging , Spinal Cord/pathology , Spinal Cord/surgery , Tuberculosis, Pulmonary/complications , Tuberculosis, Pulmonary/physiopathology , Tuberculosis, Pulmonary/therapy , Viral Load/methods
7.
J Infect Dis ; 222(1): 111-120, 2020 06 16.
Article in English | MEDLINE | ID: mdl-32072172

ABSTRACT

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.


Subject(s)
Burkitt Lymphoma/etiology , Burkitt Lymphoma/genetics , Herpesviridae Infections/etiology , Herpesviridae Infections/genetics , Herpesviridae/genetics , Sarcoma, Kaposi/complications , Sarcoma, Kaposi/genetics , Adolescent , Age Factors , Burkitt Lymphoma/epidemiology , Burkitt Lymphoma/physiopathology , Child , Child, Preschool , Coinfection , Female , Herpesviridae Infections/epidemiology , Herpesviridae Infections/physiopathology , Humans , Infant , Kenya/epidemiology , Male , Sarcoma, Kaposi/epidemiology , Sarcoma, Kaposi/physiopathology , Seroepidemiologic Studies
8.
J Am Assoc Nurse Pract ; 32(5): 354-356, 2020 May.
Article in English | MEDLINE | ID: mdl-31425376

ABSTRACT

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.


Subject(s)
Burkitt Lymphoma/complications , Burkitt Lymphoma/diagnosis , Burkitt Lymphoma/physiopathology , Diagnosis, Differential , Fever of Unknown Origin/etiology , Fever of Unknown Origin/physiopathology , Humans , Hypoglossal Nerve Diseases/etiology , Hypoglossal Nerve Diseases/physiopathology , Male , Middle Aged
9.
Rinsho Ketsueki ; 60(3): 155-164, 2019.
Article in Japanese | MEDLINE | ID: mdl-31068510

ABSTRACT

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.


Subject(s)
Burkitt Lymphoma/physiopathology , Burkitt Lymphoma/therapy , Lymphoma, Large B-Cell, Diffuse/physiopathology , Lymphoma, Large B-Cell, Diffuse/therapy , Proto-Oncogene Proteins c-myc/genetics , Antibodies, Monoclonal, Murine-Derived , Antineoplastic Combined Chemotherapy Protocols , Cyclophosphamide , Doxorubicin , Etoposide , Humans , Immunohistochemistry , Neoplasm Recurrence, Local , Prednisone , Proto-Oncogene Proteins c-bcl-2 , Proto-Oncogene Proteins c-bcl-6 , Rituximab , Vincristine
10.
J Emerg Med ; 57(1): e13-e16, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31003819

ABSTRACT

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.


Subject(s)
Burkitt Lymphoma/complications , Burkitt Lymphoma/diagnosis , Abdominal Pain/etiology , Biopsy/methods , Burkitt Lymphoma/physiopathology , Child , Colonoscopy/methods , Crohn Disease/complications , Crohn Disease/diagnosis , Crohn Disease/physiopathology , Emergency Service, Hospital/organization & administration , Humans , Male
11.
Afr Health Sci ; 19(4): 3242-3248, 2019 Dec.
Article in English | MEDLINE | ID: mdl-32127902

ABSTRACT

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).


Subject(s)
Burkitt Lymphoma/genetics , Burkitt Lymphoma/immunology , Burkitt Lymphoma/physiopathology , Gene Expression Regulation, Neoplastic , Genes, Immunoglobulin/immunology , MicroRNAs/immunology , Mutation , Burkitt Lymphoma/epidemiology , Child , Child, Preschool , Female , Humans , Kenya/epidemiology , Male
12.
Afr Health Sci ; 19(4): 3249-3252, 2019 Dec.
Article in English | MEDLINE | ID: mdl-32127903

ABSTRACT

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.


Subject(s)
Burkitt Lymphoma/diagnosis , Burkitt Lymphoma/drug therapy , Burkitt Lymphoma/physiopathology , Lymphadenopathy/diagnosis , Lymphadenopathy/drug therapy , Lymphadenopathy/physiopathology , Antimetabolites, Antineoplastic/therapeutic use , Antineoplastic Agents, Alkylating/therapeutic use , Antineoplastic Agents, Hormonal/therapeutic use , Antineoplastic Agents, Phytogenic/therapeutic use , Child , Cyclophosphamide/therapeutic use , Humans , Male , Methotrexate/therapeutic use , Nigeria , Prednisolone/therapeutic use , Treatment Outcome , Vincristine/therapeutic use
13.
Am J Med Genet A ; 179(1): 113-117, 2019 01.
Article in English | MEDLINE | ID: mdl-30569626

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/genetics , Burkitt Lymphoma/genetics , DNA-Binding Proteins/genetics , Face/abnormalities , Hematologic Diseases/genetics , Neoplasm Proteins/genetics , Protein Isoforms/genetics , Vestibular Diseases/genetics , Abnormalities, Multiple/physiopathology , Burkitt Lymphoma/complications , Burkitt Lymphoma/physiopathology , Child, Preschool , Face/physiopathology , Hematologic Diseases/complications , Hematologic Diseases/physiopathology , Humans , Male , Mutation , Proto-Oncogene Proteins c-myc/genetics , Translocation, Genetic/genetics , Vestibular Diseases/complications , Vestibular Diseases/physiopathology
14.
J Med Case Rep ; 12(1): 285, 2018 Oct 05.
Article in English | MEDLINE | ID: mdl-30286805

ABSTRACT

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.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Biopsy/methods , Burkitt Lymphoma , Ovarian Neoplasms , Ovary/pathology , Shock, Septic/diagnosis , Burkitt Lymphoma/pathology , Burkitt Lymphoma/physiopathology , Burkitt Lymphoma/therapy , Diagnosis, Differential , Early Detection of Cancer/methods , Female , Humans , Laparotomy/methods , Multiple Organ Failure/diagnosis , Multiple Organ Failure/etiology , Ovarian Neoplasms/pathology , Ovarian Neoplasms/physiopathology , Ovarian Neoplasms/therapy , Treatment Outcome , Young Adult
16.
Clin Nucl Med ; 43(4): e130-e131, 2018 Apr.
Article in English | MEDLINE | ID: mdl-29401143

ABSTRACT

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.


Subject(s)
Burkitt Lymphoma/diagnostic imaging , Burkitt Lymphoma/physiopathology , Filgrastim/pharmacology , Fluorodeoxyglucose F18 , Hematopoiesis/drug effects , Liver/drug effects , Positron Emission Tomography Computed Tomography , Adult , Burkitt Lymphoma/pathology , False Positive Reactions , Humans , Liver/physiopathology , Male , Neoplasm Staging
17.
Hematology ; 22(5): 265-273, 2017 Jun.
Article in English | MEDLINE | ID: mdl-27981896

ABSTRACT

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.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Burkitt Lymphoma/blood , Burkitt Lymphoma/drug therapy , Cystatin C/blood , Kidney Diseases/blood , Lipocalin-2/blood , Survivors , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Biomarkers/blood , Burkitt Lymphoma/physiopathology , Child , Child, Preschool , Female , Glomerular Filtration Rate/drug effects , Humans , Kidney Diseases/chemically induced , Kidney Diseases/physiopathology , Male
18.
Curr Opin Virol ; 20: 78-84, 2016 10.
Article in English | MEDLINE | ID: mdl-27689909

ABSTRACT

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.


Subject(s)
Burkitt Lymphoma/epidemiology , Burkitt Lymphoma/physiopathology , Epstein-Barr Virus Infections/complications , Malaria, Falciparum/complications , Plasmodium falciparum/pathogenicity , Humans , Incidence
20.
Rev. esp. cir. oral maxilofac ; 37(1): 44-47, ene.-mar. 2015. ilus
Article in Spanish | IBECS | ID: ibc-132512

ABSTRACT

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)


Subject(s)
Humans , Female , Adult , Burkitt Lymphoma/complications , Burkitt Lymphoma/diagnosis , Burkitt Lymphoma/drug therapy , Acquired Immunodeficiency Syndrome/complications , Anti-Inflammatory Agents/therapeutic use , Anti-Bacterial Agents/therapeutic use , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Prednisone/therapeutic use , Burkitt Lymphoma/physiopathology , Burkitt Lymphoma , Mouth/pathology , Mouth , Mouth Neoplasms/complications , Mouth Neoplasms/drug therapy , Vincristine/therapeutic use , Cyclophosphamide/therapeutic use , Diagnosis, Differential
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