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Myelodisplastic syndrome

Andrade Campos Marcio Miguel, Liévano Paola, Colorado-Ledesma Ernesto, Grasa-Ulrich José María, Lopez-Gómez Luis, Baringo Teresa, Giraldo Pilar
BACKGROUND: Non-Hodgkin lymphoma patients have a 25% increased risk for second primary neoplasms (SPN). Regarding the controversy about the increased risk of SPN in patients exposed to radioimmunotherapy (RIT), we have analyzed this issue in a cohort of follicular lymphoma (FL) patients treated with/without RIT. PATIENTS AND METHODS: A retrospective study including all consecutive FL patients diagnosed since 2001 were performed. Demographic, clinical data including the incidence of any kind of neoplasm (excluding basocellular skin carcinoma) were recorded...
May 9, 2016: European Journal of Haematology
Valentina Salsi, Sebastian Fantini, Vincenzo Zappavigna
NUP98 is a recurrent partner gene in translocations causing acute myeloid leukemias and myelodisplastic syndrome. The expression of NUP98 fusion oncoproteins has been shown to induce mitotic spindle defects and chromosome missegregation, which correlate with the capability of NUP98 fusions to cause mitotic checkpoint attenuation. We show that NUP98 oncoproteins physically interact with the APC/C(Cdc20) in the absence of the NUP98 partner protein RAE1, and prevent the binding of the mitotic checkpoint complex to the APC/C(Cdc20)...
September 2016: Cell Cycle
Antonio Gidaro, Giorgio Lambertenghi Deliliers, Paolo Gallipoli, Massimo Arquati, Maddalena Alessandra Wu, Roberto Castelli
Myelodisplastic syndromes (MDS) are heterogeneous myeloid disorders characterized by peripheral cytopenias and increased risk of transformation into acute myelogenous leukemia (AML). MDS are generally suspected in the presence of cytopenia on routine analysis and the evaluation of bone marrow cells morphology and cellularity leads to correct diagnosis of MDS. The incidence of MDS is approximately five cases per 100,000 people per year in the general population, but it increases up to 50 cases per 100,000 people per year after 60 years of age...
September 1, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
Enrique M Ocio, Pilar Herrera, María-Teresa Olave, Nerea Castro, José A Pérez-Simón, Salut Brunet, Albert Oriol, Marta Mateo, Miguel-Ángel Sanz, Javier López, Pau Montesinos, María-Carmen Chillón, María-Isabel Prieto-Conde, María Díez-Campelo, Marcos González, María-Belén Vidriales, María-Victoria Mateos, Jesús F San Miguel
This phase Ib/II trial combined the pan-deacetylase inhibitor panobinostat with chemotherapy followed by panobinostat maintenance in elderly patients with newly diagnosed acute myeloid leukemia. Patients with prior history of myelodysplastic syndrome were excluded and 38 evaluable patients were included in the study (median age: 71 years; range: 65-83). Study patients received an induction with idarubicin (8 mg/m(2) iv days 1-3) plus cytarabine (100 mg/m(2) iv days 1-7) plus panobinostat po at escalating doses (days 8, 10, 12, 15, 17 and 19) that could be repeated in non-responding patients...
October 2015: Haematologica
A Bacigalupo, A Dominietto, A Ghiso, C Di Grazia, T Lamparelli, F Gualandi, S Bregante, M T Van Lint, S Geroldi, S Luchetti, R Grasso, S Pozzi, N Colombo, E Tedone, R Varaldo, A M Raiola
This is a report of 148 patients with hematologic malignancies who received an unmanipulated haploidentical bone marrow transplant (BMT), followed by post-transplant high-dose cyclophosphamide (PT-CY). All patients received a myeloablative conditioning consisting of thiotepa, busulfan, fludarabine (n=92) or TBI, fludarabine (n=56). The median age was 47 years (17-74); 47 patients were in first remission (CR1), 37 in second remission (CR2) and 64 had an active disease; all patients were first grafts. The diagnosis was acute leukemia (n=75), myelodisplastic syndrome (n=24), myelofibrosis (n=16), high-grade lymphoma (n=15) and others (n=18)...
June 2015: Bone Marrow Transplantation
J M Bastida, M Cabrero, O Lopez-Godino, M Lopez-Parra, F Sanchez-Guijo, L Lopez-Corral, L Vazquez, D Caballero, C Del Cañizo
The impact of donor age in patients with acute myeloid leukemia and myelodysplastic syndrome who underwent allogeneic hematopoietic stem cell transplant (HSCT) remains unclear. In the current study, we evaluate 179 consecutive patients who received an HSCT, from January 2000 to January 2013, in our Institution. Most of the HSCT (91%) were HLA-matched. Patient and donor median age were 51 years (18-69) and 47 years (12-75) respectively, and 81 donors (45%) were older than 50 years. The median follow-up was 38 months (range 1-138), Kaplan-Meier estimated 3-year overall survival (OS) was 63% and disease free survival (DFS) was 56%...
August 2015: Leukemia Research
Lucia Tattoli, Michael Tsokos, Julia Sautter, Joannis Anagnostopoulos, Eloisa Maselli, Giuseppe Ingravallo, Mario Delia, Biagio Solarino
In forensic sciences, bone marrow (BM) is an alternative matrix in postmortem toxicology because of its good resistance to autolysis and contaminations. Nevertheless, few studies have been focused on postmortem BM morphological changes after pathological stimuli. We examined 73 BM samples from forensic autopsies; causes of death were both natural and traumatic. BM samples were collected from the sternum by needle aspiration and biopsy; in selected cases, immunohistochemistry was performed. Few autolytic changes were found; BM cellularity decreased with increasing age and postmortem interval...
January 2014: Forensic Science International
Anwar Zeb Jan, Bakhtyar Zahid, Samreen Ahmad, Zahid Gul
OBJECTIVE: To determine the various spectrum of pancytopenia with its frequency on the basis of bone marrow examination in children from 6 months to 14 years. METHODS: A retrospective descriptive study was carried out at Department of Pediatric Rehman Medical Institute Peshawar from January 2006 to December 2012. A total of 205 patient's age between 6 months and 14 years, fulfilling the inclusion and exclusion criteria were included in the study. Complete blood count, peripheral smear, bone marrow examination and Serum vitamin B12 level was done in all the cases...
September 2013: Pakistan Journal of Medical Sciences Quarterly
Sophia Adamia, Patrick M Pilarski, Michal Bar-Natan, Richard M Stone, James D Griffin
Although the imatinib based therapy of chronic myeloid leukemia (CML) represents a triumph of medicine, not all patients with CML benefit from this drug due to the development of resistance and intolerance. The interruption of imatinib treatment is often followed by clinical relapse, suggesting a failure in the killing of residual leukaemic stem cells. There is need to identify alternative selective molecular targets for this disease and develop more effective therapeutic approaches. Alternative pre-mRNA splicing (AS) is an epigenetic process that greatly diversifies the repertoire of the transcriptome...
September 2013: Current Cancer Drug Targets
Otávio Clark, Enéas José de Matos Faleiros
INTRODUCTION: Myelodysplastic syndrome is an incurable and rare hematological disease that affects the production of blood cells. One aim of treatment is to maintain the blood-cell count to near-normal levels. This is mainly achieved with hematopoietic- growth factors and transfusions. Our objective was to determine the cost of supportive treatment/care for patients with low and intermediate I risk myelodysplastic syndrome in respect to private healthcare plans in Brazil. METHOD: We adapted the National Comprehensive Cancer Network treatment guidelines for intermediate risk myelodysplastic syndrome patients to the Brazilian reality, adopting a decision tree to explore treatment combinations...
2011: Revista Brasileira de Hematologia e Hemoterapia
Darko Antic, Ivo Elezovic, Natasa Milic, Nada Suvajdzic, Ana Vidovic, Maja Perunicic, Irena Djunic, Mirjana Mitrovic, Dragica Tomin
Isolated myeloid sarcoma is an extramedullary tumor of immature myeloid cells defined by the absence of leukemia history, myelodisplastic syndrome, or myeloproliferative neoplasma with a negative bone marrow biopsy. Myeloid sarcoma is a very rare condition, and few cases have been reported. We reviewed data of 12 patients with isolated myeloid sarcoma managed at a single center to determine the possible prognostic factors affecting patient survival, such as age, sex, type, localization, and treatment options...
February 2013: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
V André, D Longoni, S Bresolin, C Cappuzzello, E Dander, M Galbiati, C Bugarin, A Di Meglio, E Nicolis, E Maserati, M Serafini, A J Warren, G Te Kronnie, G Cazzaniga, L Sainati, M Cipolli, A Biondi, G D'Amico
Shwachman-Diamond syndrome (SDS) is a rare inherited disorder characterized by bone marrow (BM) dysfunction and exocrine pancreatic insufficiency. SDS patients have an increased risk for myelodisplastic syndrome and acute myeloid leukemia. Mesenchymal stem cells (MSCs) are the key component of the hematopoietic microenvironment and are relevant in inducing genetic mutations leading to leukemia. However, their role in SDS is still unexplored. We demonstrated that morphology, growth kinetics and expression of surface markers of MSCs from SDS patients (SDS-MSCs) were similar to normal MSCs...
2012: Blood Cancer Journal
Marco Gunnellini, Lorenzo Falchi
Mantle cell lymphoma (MCL) comprises 3-10% of NHL, with survival times ranging from 3 and 5 years. Indolent lymphomas represent approximately 30% of all NHLs with patient survival largely dependent on validated prognostic scores. High response rates are typically achieved in these patients with current first-line chemoimmunotherapy. However, most patients will eventually relapse and become chemorefractory with poor outcome. Alternative chemoimmunotherapy regimens are often used as salvage strategy and stem cell transplant remains an option for selected patients...
2012: Advances in Hematology
S V Andreeva
Cytogenetic investigation results in bone marrow cells of 70 children and teenagers from 1 to 18 years with myelodysplastic syndromes (MDS) were presented. Between them were 29 girls and 41 boys. According MDS categories were registrated refractory anemia (RA), refractory cytopenia with multilineage dysplasia (RCMD) and refractory anemia with excess blasts (RAEB) (30, 29 and 11 patients, respectively). High spectrum of mosaic clones in bone marrow cells were found: 1) normal and near-tetraploidy 2) abnormal and normal, 3) abnormal, near-tetraploidy and normal, 4) evolution of clonal chromosomal abnormalities and 5) unrelated clones...
July 2011: Likars'ka Sprava
Raffaele Landolfi, Leonardo Di Gennaro
Myeloproliferative neoplasms (MPNs) and myelodisplastic syndromes (MDs) are clonal disorders caused by mutations of myeloid stem cells. Among MPNs, polycythemia vera and essential thrombocythemia are relatively benign disorders in which arterial and venous thromboses represent the main cause of morbidity and mortality. The natural history of MDs is often complicated by both thromboses and haemorrhages, mainly due to platelet quantitative and quantitative anomalies, as well as to treatment complications. In this short review, we focus the attention on the main aspects of thrombophilia in both disorders...
April 2012: Hematology (Amsterdam, Netherlands)
Darko Antic, Luciana Impera, Marija Dencic Fekete, Vesna Djordjevic, Clelia Tiziana Storlazzi, Ivo Elezovic
Myelodysplastic syndromes (MDS) are clonal stem cell diseases that can result in cytopenias, dysplasia in one or more cell lineages, infective hematopoiesis, and increase the risk of progression to acute myeloid leukemia (AML). MDSs are characterized by several recurrent cytogenetic defects, which can affect diagnosis, prognosis, and treatment. Some of that chromosomal alterations are associated with very poor prognosis. Conventional cytogenetics cannot accurately define the rearranged karyotype. Instead, molecular cytogenetics analyses can provide important diagnostic and prognostic information for patients affected by MDS, allowing the characterization of the whole mutational spectrum and, mainly, novel chromosomal lesions...
February 1, 2012: Gene
Lorella Melillo, D Valente, G D'Arena, M Dell'Olio, A Falcone, M M Minervini, M Nobile, G Rossi, G Sanpaolo, P R Scalzulli, N Cascavilla
The incidence of acute myeloid leukemia (AML) increases with age, but results of intensive chemotherapy in elderly patients are disappointing. Non-pegylated liposomal formulations of doxorubicin (Myocet™) have been developed with the aim of reducing systemic and cardiac toxicity especially in the elderly. We evaluated the efficacy and toxicity profiles of fludarabine, cytarabine and granulocyte colony-stimulating factor (FLAG) regimen given in association with Myocet™ in 35 patients with AML, median age 69 years (range 61-83 years)...
July 2011: International Journal of Immunopathology and Pharmacology
Tim J Wigle, Sarah K Knutson, Lei Jin, Kevin W Kuntz, Roy M Pollock, Victoria M Richon, Robert A Copeland, Margaret Porter Scott
Mutations at tyrosine 641 (Y641F, Y641N, Y641S and Y641H) in the SET domain of EZH2 have been identified in patients with certain subtypes of non-Hodgkin lymphoma (NHL). These mutations were shown to change the substrate specificity of EZH2 for various methylation states of lysine 27 on histone H3 (H3K27). An additional mutation at EZH2 Y641 to cysteine (Y641C) was also found in one patient with NHL and in SKM-1 cells derived from a patient with myelodisplastic syndrome (MDS). The Y641C mutation has been reported to dramatically reduce enzymatic activity...
October 3, 2011: FEBS Letters
M Pavkovic, R Jovanovic, G Petrusevska, L Cevreska, A Stojanovic
BACKGRAOUND: Imunosupressive therapy with antithymocyte globulin (ATG), cyclosporine (CsA) or both has been shown to induce haematological responses in a subset of patients with myelodysplastic syndromes (MDS), in particular in the hypocellular form of MDS. CASE REPORT: We report our first case with hypocellular MDS treated with CsA. A 54-year-old female referred to our Department due to weakness and severe pancytopenia. Hypocellular form of MDS was diagnosed after bone marrow biopsy...
2011: Prilozi
S Genadieva-Stavrik, B Georgievski, Z Stojanoski, S Krstveska-Balkanov, A Pivkova, M Trajkova, M Genadieva-Dimitrova, V Serafimoski
The myelodisplastic syndrome is a heterogeneous group of diseases, characterised by ineffective and dysplastic haematopoesis and pancytopenia in the peripheral blood, followed by progressive disturbance of differentiation of the haematopoetic stem cell, resulting in evolution of the disease towards acute leukaemia. According to the latest WHO classification, the term myelodisplastic syndrome includes diseases with an indolent course, as well as diseases with a fast evolution towards acute leukaemia. Because of this diversity, haematologists base their therapeutic decisions on prognostic scoring systems which incorporate all the significant factors with an influence on survival in this group of patients with myelodisplastic syndrome...
2011: Prilozi
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