63 research outputs found

    The frequency of NPM1 mutations in childhood acute myeloid leukemia

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    <p>Abstract</p> <p>Background</p> <p>Mutations in the nucleophosmin <it>(NPM1) </it>gene have been solely associated with childhood acute myeloid leukemia (AML). We evaluated the frequency of <it>NPM1 </it>mutations in childhood AML, their relation to clinical and cytogenetic features and the presence of common <it>FLT3 </it>and <it>RAS </it>mutations.</p> <p>Results</p> <p><it>NPM1 </it>mutations were found in 8% of cases. They involved the typical type 'A' mutation and one novel mutation characterized by two individual base pair substitutions, which resulted in 2 amino acid changes (W290) and (S293) in the NPM protein. <it>FLT3</it>/ITD mutations were observed in 12% of the cases and in one <it>NPM1-</it>mutated case bearing also t(8;21) (q22;q22). No common <it>RAS </it>mutations were identified.</p> <p>Conclusions</p> <p>A relatively consistent <it>NPM1 </it>mutation rate was observed, but with variations in types of mutations. The role of different types of <it>NPM1 </it>mutations, either individually or in the presence of other common gene mutations may be essential for childhood AML prognosis.</p

    PYY (peptide YY)

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    Review on PYY (peptide YY), with data on DNA, on the protein encoded, and where the gene is implicated

    Cadmium induces apoptosis differentially on immune system cell lines

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    We investigate the role of cadmium-induced apoptosis in the immune system, studying the apoptotic effect of Cd2+ in three human cell lines, the T-cell line CCRF-CEM, the B-cell line Raji and the lymphoblastoid cell line Molt-3. Cd2+ was found to be dose-dependently toxic for these cell lines, after 18 h incubation. The 50% lethal dose (LD50) for CCRF-CEM was 25 ± 20 μM, for Molt-3 was 22.5 ± 2.4 μM, and for Raji was 13.5 ± 2.2 μM. DNA electrophoresis and quantitation of apoptosis after 18 h incubation with different Cd2+ concentrations was carried out. In CCRF-CEM cells, apoptosis was detected at 10 μM, reaching a maximum at 30 μM. In Molt-3, apoptosis was detected at 10 μM, increased thereafter and a plateau effect was observed from 30 to 50 μM Cd2+. In Raji, apoptosis was detected at 5 μM, while a plateau effect was observed from 20 to 30 μM Cd2+. The above results indicated that Raji cells were more sensitive to cadmium compared to both CCRF-CEM and Molt-3 cells, suggesting a differential Cd2+-induced apoptotic effect, which may disturb the immune system normal growth and development

    Clinical cytogenetics in pediatric acute leukemia: An update

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    Pediatric acute leukemias are generally characterized by recurrent numerical and structural chromosomal abnormalities, which are thought to be specifically associated with diagnosis and prognosis of both childhood acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). The identification of those chromosomal aberrations is clinically important because they are considered significant risk-stratifying markers. However there have been several instances in which they remain undetectable, possibly due to the low resolution of most genetic screening tools used. In the present review, the clinical significance of most chromosomal aberrations associated with pediatric ALL and AML as well as the current technology used for their identification is discussed. © 2012 Published by Elsevier Inc. All rights reserved

    Tumorigenesis related to retroviral infections

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    Retroviral infections are considered important risk factors for cancer development in humans since approximately 15-20% of cancer worldwide is caused by an infectious agent. This report discusses the most established oncogenic retroviruses, including human immunodeficiency virus (HIV), human T-cell leukemia virus (HTLV-1 and -2), Rous sarcoma virus (RSV), Abelson murine leukemia virus (A-MuLV), Moloney murine leukemia virus (M-MuLV), murine mammary tumor virus (MMTV), bovine leukemia virus, (BLV), Jaagsiekte sheep retrovirus (JSRV), and Friend spleen focus-forming virus (SFFV). The role of retroviruses as inducers of carcinogenesis, the mechanisms underlying oncogenic transformation, and the routes of transmission of several cancer-related retroviral infections are also described. Finally, the impact of cancer-related retroviral infections in the developing world is addressed. This review is an update of carcinogenesis caused by retroviral infections. © 2011 Braoudaki and Tzortzatou-Stathopoulou

    Microbiota and cancer: an update

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    The number of microbes in the human intestine is approximately 1 × 10 14 , while the number of eukaryotic cells in the human body is around 1 × 10 13 . As a result of co-evolution of the host mucosal immune system and the microbiota, both have developed multiple mechanisms to maintain homeostasis. Nevertheless, when these mechanisms are disturbed by pathogenic bacteria, which invade this fragile environment, the immune system responds to the microbiota and may support tumour growth in the intestine. Data advocate that the microbiota and its interactions with the host could also be implicated in carcinogenesis in other organs. It is nowadays suggested that developing methods to selectively manipulate components of the microbiota and ultimately target tumorigenesis represents a complex but exciting challenge. In this review, the main pathogenetic mechanisms of the interplay between the microbiome and the innate system, which may be implicated in tumorigenesis are discussed. Also, the importance of the gut microbiota regarding efficacy and toxicity of current chemotherapeutic agents, as well as the direct antitumor properties of the microbiota, will be reviewed. © 2019, © 2019 Edizioni Scientifiche per l&apos;Informazione su Farmaci e Terapia (Italian Society of Chemotherapy)

    Encephalitis and myocarditis in a child with acute lymphoblastic leukemia: Role of coxsackievirus B5?

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    Enteroviruses are common causes of viral encephalitis in childhood and the most common cause of myocarditis. The prognosis is good with exception of the immunocompromised children who are at higher risk with increased mortality. A case of a 7-year-old boy with acute lymphoblastic leukemia and coxsackievirus B5-associated encephalitis and myocarditis is described. The boy was in complete remission and coxsackievirus B5 infection occurred 22 months after the beginning of chemotherapy. The clinical manifestations were fever seizures, and altered consciousness. He underwent only supportive treatment. He had an excellent outcome; 2 years later he is still in complete remission with normal electroencephalogram and normal cardiac function
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