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myelodysplasic syndromes

Stephen E Langabeer, Eibhlin Conneally, Catherine M Flynn
The term "idiopathic erythrocytosis (IE)" is applied to those cases where a causal clinical or pathological event cannot be elucidated and likely reflects a spectrum of underlying medical and molecular abnormalities. The clinical course of a patient with IE is described manifesting as a persistent erythrocytosis with a low serum erythropoietin level, mild eosinophilia, and with evidence of a thrombotic event. The patient subsequently developed a myelodysplasic syndrome (MDS) and acute myeloid leukemia (AML), an event not observed in erythrocytosis patients other than those with polycythemia vera (PV)...
2018: Case Reports in Hematology
Estelle Menu, Nathalie Beaufils, Fabrice Usseglio, Estelle Balducci, Marina Lafage Pochitaloff, Regis Costello, Jean Gabert
BACKGROUND: A large number of chromosomal translocations of the human KMT2A gene, better known as the MLL gene, have so far been characterized. Genetic rearrangements involving KMT2A gene are frequently involved in lymphoid, myeloid and mixed lineage leukemia. One of its rare fusion partners, the mastermind like 2 (MAML2) gene has been reported in four cases of myeloid neoplasms after chemotherapy so far: two acute myeloid leukemias (AML) and two myelodysplasic syndrome (MDS), and two cases of secondary T-cell acute lymphoblastic leukemia (T-ALL)...
May 23, 2017: BMC Cancer
S Bonanad, J De la Rubia, M Gironella, E Pérez Persona, B González, C Fernández Lago, M Arnan, M Zudaire, J A Hernández Rivas, A Soler, C Marrero, C Olivier, A Altés, D Valcárcel, M T Hernández, I Oiartzabal, R Fernández Ordoño, M Arnao, A Esquerra, J Sarrá, E González-Barca, J González, X Calvo, M Nomdedeu, A García Guiñón, A Ramírez Payer, A Casado, S López, M Durán, M Marcos, A J Cruz-Jentoft
OBJECTIVES: The purpose of this study was to develop a new brief, comprehensive geriatric assessment scale for older patients diagnosed with different hematological malignancies, the Geriatric Assessment in Hematology (GAH scale), and to determine its psychometric properties. MATERIALS AND METHODS: The 30-item GAH scale was designed through a multi-step process to cover 8 relevant dimensions. This is an observational study conducted in 363 patients aged≥65years, newly diagnosed with different hematological malignancies (myelodysplasic syndrome/acute myeloblastic leukemia, multiple myeloma, or chronic lymphocytic leukemia), and treatment-naïve...
September 2015: Journal of Geriatric Oncology
Imen Boukhris, Imene Rachdi, Eya Chérif, Samira Azzabi, Lamia Ben Hassine, Iness Kéchaou, Zouleikha Kaouech, Chékib Kooli, Narjess Khalfallah
BACKGROUND: Hemophagocytic syndromes are mostly associated with underlying pathology, they can reveal: immunodeficiency, infections, hemopathies, cancers and auto-immune diseases. AIM: to investigate clinical, biological features, outcome characteristics and underlying pathology of Tunisian patients with hemophagocytic syndromes. METHODS: A retrospective study of patients with hemophagocytic syndromes admitted in an internal medicine department in Tunis over the period 2009-2012...
November 2014: La Tunisie Médicale
Raphaelle Fanciullino, Cedric Mercier, Cindy Serdjebi, Yaël Berda, Frederic Fina, L'Houcine Ouafik, Bruno Lacarelle, Joseph Ciccolini, Regis Costello
Azacytidine, an antimetabolite with an original epigenetic mechanism of action, increases survival in patients diagnosed with high-risk myelodysplasic syndromes or acute myeloid leukemia with less than 30% medullar blasts. Azacytidine is a pyrimidine derivative that undergoes metabolic detoxification driven by cytidine deaminase (CDA), a liver enzyme whose gene is prone to genetic polymorphism, leading to erratic activity among patients. Clinical reports have shown that patients with the poor metabolizer (PM) phenotype are likely to experience early severe or lethal toxicities when treated with nucleosidic analogs such as gemcitabine or cytarabine...
June 2015: Pharmacogenetics and Genomics
M Ouchari, T Chakroun, S Abdelkefi, H Romdhane, B Houissa, S Jemni Yacoub
We report the case of a 56-year-old patient with blood group O+C-c+E-e+K-, followed for a myelodysplasic syndrome and treated by regular pheno-identical and compatible (RBCs) transfusion since December 2007. In June 2009, a positive crossmatch was found with 2 RBCs O+C-c+E-e+K-. A positive anti-body screening with a positive autocontrol was detected and anti-D was unidentified in the patient's serum. The DAT was positive (IgG) and elution identified an anti-D. The following assumptions were then made: it could be a partial D phenotype with anti-D alloantibodies or RH: 1 phenotype with an anti-D auto-antibodies...
March 2014: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
Selim Jennane, Hicham Eddou, El Mehdi Mahtat, Johanna Konopacki, Bertrand Souleau, Jean Valère Malfuson, Vincent Foissaud, Thierry de Revel
We report a rare case of association of two distinct hematologic malignancies: refractory cytopenia with multilineage dysplasia associated with del(5q) and symptomatic multiple myeloma associated with del(17p) and del(13q). After 16 months, the patient presented an acute leukemic transformation of the myelodysplasic syndrome.
September 2013: Annales de Biologie Clinique
Jian Huang, Min Yang, Jie Jin
OBJECTIVE: To investigate the methylation patterns of PTEN gene in myelodysplastic syndrome (MDS) cell line MUTZ-1 cells and the primary cells, to explore the effects of uroacitides (CDA- II) on the methylation patterns, and to provide novel target therapy for MDS. METHODS: Reverse transcriptase-polymerase chain reaction (RT-PCR) and Western blot were used to determine the expression of PTEN and DNA methyltransferases (DNMTs) as well as the effects of CDA-II on them...
July 2013: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
W Ayed, L Gouas, F Penault-Llorca, A Amouri, A Tchirkov, P Vago
Patients with trisomy 21, still called Down's syndrome (DS), present a particular tumoral profile compared to the general population with an increased incidence of leukaemia in the childhood and a low risk of solid cancer in the adulthood. DS children indeed present a 50-fold risk of developing a leukaemia compared to age-matched non-trisomic children and most of them develop a specific myelodysplasic disorder called transient myelodysplasic disorder. In spite of the low incidence of solid tumors, some are very rare as breast cancer, nephroblastoma, neuroblastoma and medulloblastoma, whereas the others remain more frequent as retinoblastoma, lymphoma and gonadal and extragonadal germ cell tumours...
October 2012: Morphologie: Bulletin de L'Association des Anatomistes
Rosa Jannone Forés, Javier Botella de Maglia, Juan Bonastre Mora
BACKGROUND AND OBJECTIVE: The survival of haematologic patients admitted to Intensive Care units (ICU) is so poor, that it is debatable whether they should be admitted or not to them. We aimed to find out the survival of these patients in an ICU to know if their admission is justified. PATIENTS AND METHOD: Retrospective study of 600 haematologic patients (49.4 ± 16.4 years, 58.3% male) representing a total of 660 different admissions to the ICU of a university hospital, with a 6 months follow-up...
December 8, 2012: Medicina Clínica
C Poiraud, V Gagey-Caron, S Barbarot, C Durant, S Ayari, J-F Stalder
BACKGROUND: Extracutaneous and mucosal involvement is rare in neutrophilic dermatoses. We report a case of cutaneous-mucosal and systemic pyoderma gangrenosum (PG) revealing myelodysplasic syndrome. CASE REPORT: A 56-year-old man was hospitalised for an inflammatory abdominal plaque with an ulcerated centre that appeared rapidly in a setting of fever of 40 degrees C, odynophagia, weight loss and arthritis of the ankle. Despite surgical abdominal repair and combined dual antibiotics, the patient remained febrile and the ulcer size continued to increase...
March 2010: Annales de Dermatologie et de Vénéréologie
Karen K Ballen, Corey Cutler, Beow Y Yeap, Steven L McAfee, Bimalangshu R Dey, Eyal C Attar, Yi-Bin Chen, Richard L Haspel, Deborah Liney, John Koreth, Vincent Ho, Edwin P Alyea, Robert J Soiffer, Thomas R Spitzer, Joseph H Antin
Double umbilical cord blood transplantation (UCBT) with a reduced-intensity conditioning regimen is an effective strategy for adult patients without a matched donor. The risk of second malignancies in these patients has not yet been established, however. In the present study, 98 adults with a hematologic malignancy underwent double UCBT. Seventy patients received a reduced-intensity conditioning regimen of fludarabine 30 mg/m(2)/day for 6 days, melphalan 100 mg/m(2)/day for 1 day, and rabbit antithymocyte globulin 1...
July 2010: Biology of Blood and Marrow Transplantation
C Lamour, A Bergeron
Introduction Non-infectious pulmonary complications of myelodysplasic syndromes and chronic myeloproliferative disorders are not rare but remain little known to the respiratory physician. He may be confronted with various clinical pictures corresponding to different pathophysiological causes. Background There are few data in the literature relating only to isolated cases or small series. The non infectious pulmonary complications of myelodysplasic syndromes and chronic myeloproliferative disorders can be classified into several clinical entities: tumoural syndrome, pulmonary fibrosis or diffuse infiltration, auto-immune reactions including vasculitis, Sweet's syndrome, organizing pneumonia, pulmonary alveolar proteinosis...
June 2009: Revue des Maladies Respiratoires
Soon Il Jung, Hee Soon Cho, Chae Hoon Lee, Kyong Dong Kim, Jung Ok Ha, Min-Kyoung Kim, Kyung Hee Lee, Myung Soo Hyun
Trisomy 19 is frequently encountered in cases of chronic myeloid leukemia (CML) as a secondary abnormality: however, trisomy 19 rarely occurs as a sole chromosomal abnormality and, to date, it has only been reported in 48 hematopoietic malignancies, 1 case of adenocarcinoma and 1 case of astrocytic tumor. Here, we report two additional cases of trisomy 19 as a sole karyotypic aberration in myeloid malignancies. One of these cases involved a 6-month-old male who was diagnosed with acute myeloid leukemia minimally differentiated...
June 2008: Korean Journal of Laboratory Medicine
Daniel V T Catenacci, Gary J Schiller
Myelodysplastic syndromes (MDS) are a set of oligoclonal disorders of hematopoietic stem cells characterized by ineffective hematopoiesis that manifest clinically as anemia, neutropenia, and/or thrombocytopenia of variable severity. The result often is transfusion-dependent anemia, an increased risk of infection or hemorrhage, and a potential to progress to acute myelogenous leukemia (AML). Although progression to acute leukemia can lead to death in patients with MDS, many deaths are consequences of cytopenias and marrow failure in the absence of transformation...
November 2005: Blood Reviews
Mohamed Bentires-Alj, J Guillermo Paez, Frank S David, Heike Keilhack, Balazs Halmos, Katsuhiko Naoki, John M Maris, Andrea Richardson, Alberto Bardelli, David J Sugarbaker, William G Richards, Jinyan Du, Luc Girard, John D Minna, Mignon L Loh, David E Fisher, Victor E Velculescu, Bert Vogelstein, Matthew Meyerson, William R Sellers, Benjamin G Neel
The SH2 domain-containing protein-tyrosine phosphatase PTPN11 (Shp2) is required for normal development and is an essential component of signaling pathways initiated by growth factors, cytokines, and extracellular matrix. In many of these pathways, Shp2 acts upstream of Ras. About 50% of patients with Noonan syndrome have germ-line PTPN11 gain of function mutations. Associations between Noonan syndrome and an increased risk of some malignancies, notably leukemia and neuroblastoma, have been reported, and recent data indicate that somatic PTPN11 mutations occur in children with sporadic juvenile myelomonocytic leukemia, myelodysplasic syndrome, B-cell acute lymphoblastic leukemia, and acute myelogenous leukemia (AML)...
December 15, 2004: Cancer Research
César Paz-y-Miño, B Fernanda Fiallo, Santiago A Morillo, Andrés Acosta, Patricia Giménez, Ligia Ocampo, Paola E Leone
Given the importance of mismatch repairing genes in keeping the genetic stability in cells, any alterations in their structure or function could generate instability in the genome and predispose the development of oncogenic processes. hMSH2 is the principal gene involved in the post-replicating DNA mismatch repair system. In this study, exon 13 of the hMSH2 gene was analyzed in different neoplasias, leukemias and lymphomas. The aim of our work was to determine the association between the presence of polymorphisms in this region with the development of alterations in the hematological system...
March 2003: Leukemia & Lymphoma
F Németh-Normand, L Machet, L Vaillant, V Fontes, T Lefrancq, G Lorette
BACKGROUND: Relapsing polychondritis is a rare autoimmune disease, characterized by recurrent inflammation of cartilaginous tissues. In some cases, many other tissues can be involved. CASE REPORT: We describe the case of a 64 year-old man with relapsing polychondritis, whose first symptoms were papulonodular and mucosal aphthous lesions. The skin biopsy revealed vasculitis without leukocytoclasic features. The diagnostic of relapsing polychondritis was made only two years later, thanks to recurrent auricular chondritis...
November 2002: Annales de Dermatologie et de Vénéréologie
Graham B Tennant, Ala I Al-Sabah, Alan K Burnett
Myelodysplastic (MDS) patients at diagnosis (n = 162) were analysed by the International Prognostic Scoring System (IPSS). The two intermediate groups were not significantly different. The IPSS was of limited value in predicting survival of MDS patients after preliminary separation into subgroups with < 5%, or >/= 5%, myeloblasts. Cox's proportional hazards analysis of these subgroups enabled discrimination of highly significant prognostic groups. In both subgroups, longer survival was associated with macrocytosis...
October 2002: British Journal of Haematology
T Nagata, M Aoki, T Hasegawa, Y Shiga, T Hayashi, J Higuchi, K Abe, T Tanno, H Konno, Y Itoyama
We report a 58-year-old man with slowly progressive muscle atrophy and weakness in the four extremities, accompanying cerebellar ataxia and sensory impairment of all modalities. He was a product of consanguineous marriage. His neurological manifestations began in childhood. He was admitted to our hospital because of marked abdominal distension and pretibial edema with hypoalbuminemia and hyperlipidemia. Neuroimaging studies showed marked atrophy of the cerebellum and spinal cord. Nerve conduction studies presented with slowing and sural nerve biopsy revealed demyelination with onion-bulbs...
July 2001: Rinshō Shinkeigaku, Clinical Neurology
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