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https://www.readbyqxmd.com/read/28934563/hemophagocytic-lymphohistiocytosis
#1
Hanny Al-Samkari, Nancy Berliner
Hemophagocytic lymphohistiocytosis is a life-threatening disorder characterized by unbridled activation of cytotoxic T lymphocytes, natural killer (NK) cells, and macrophages resulting in hypercytokinemia and immunemediated injury of multiple organ systems. It is seen in both children and adults and is recognized as primary (driven by underlying genetic mutations that abolish critical proteins required for normal function of cytotoxic T cells and NK cells) or secondary (resulting from a malignant, infectious, or autoimmune stimulus without an identifiable underlying genetic trigger)...
September 13, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28934515/utility-of-fluorescence-in-situ-hybridization-panel-for-myelodysplastic-syndrome-in-evaluation-of-cytopenia-in-a-pediatric-hospital-a-5-year-retrospective-review-and-utilization-management
#2
Cynthia T Bunting, Tal Senior, Yehuda Susson, Alethia Rivera, Debra Saxe, Silvia T Bunting
Background: MDS FISH was routinely ordered together with chromosome analysis for patients with cytopenia in our hospital. The utility of MDS FISH in the pediatric population is unknown. Objective: To analyze the utility of fluorescence in situ hybridization panel for myelodysplastic syndrome (MDS FISH) in the management of patients with cytopenia. Methods: We performed a retrospective review over a 5-year period, from 2009 to 2014 to determine whether chromosome analysis (CA) plus MDS FISH added useful information compared to chromosome analysis alone...
August 1, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/28927162/myelodysplastic-syndrome-unclassifiable-mds-u-with-1-blasts-is-a-distinct-subgroup-of-mds-u-with-a-poor-prognosis
#3
Elizabeth Margolskee, Robert P Hasserjian, Duane Hassane, Wayne Tam, Susan Mathew, Chi Young Ok, Sa A Wang, Jean Oak, Daniel A Arber, Attilio Orazi
Objectives: Three situations qualify as myelodysplastic syndrome, unclassifiable (MDS-U): (1) refractory cytopenia with dysplasia and 1% blasts in peripheral blood (BL), (2) pancytopenia with unilineage dysplasia (Pan), and (3) persistent cytopenia, less than 5% bone marrow blasts, and less than 10% dysplastic cells and presence of MDS-defining cytogenetic abnormalities (CG). We compared the clinicopathologic features and mutational profiles for these three groups. Methods: MDS-U cases were reviewed at four major academic institutions...
July 1, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28921816/comprehensive-genetic-analysis-of-donor-cell-derived-leukemia-with-kmt2a-rearrangement
#4
Rieko Taniguchi, Hideki Muramatsu, Yusuke Okuno, Kyogo Suzuki, Satoshi Obu, Masahiro Nakatochi, Teppei Shimamura, Yoshiyuki Takahashi, Yasuo Horikoshi, Kenichiro Watanabe, Seiji Kojima
BACKGROUND: Donor cell leukemia (DCL) occurs after allogeneic hematopoietic stem cell transplantation. Several mechanisms, including occult leukemic/preleukemic subclones in the donor graft and germline predisposition to leukemia, are proposed to be associated with DCL's molecular pathogenesis. We report a comprehensive genetic analysis of a patient with KMT2A-rearranged DCL after allogeneic bone marrow transplantation for refractory cytopenia of childhood. PROCEDURE: We performed a whole-exome sequencing of the recipient's peripheral blood before transplant and the donor's peripheral blood and the recipient's bone marrow at the time of DCL diagnosis...
September 17, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#5
Filippo Consonni, Laura Dotta, Francesca Todaro, Donatella Vairo, Raffaele Badolato
PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28894565/hematological-characteristics-of-yemeni-adults-and-children-with-visceral-leishmaniasis-could-eosinopenia-be-a-suspicion-index
#6
Jameel Al-Ghazaly, Waled Al-Dubai, Munasser Abdullah, Leila Al-Gharasi
BACKGROUND AND OBJECTIVES: Delay in the diagnosis of visceral leishmaniasis (VL) particularly in non-endemic areas is associated with higher mortality. In our experience, we found that marked bone marrow eosinopenia was a very frequent accompaniment of VL and might be a useful clue for the diagnosis, which indicates the opportunity for further morphological assessment. The aim of this study was to describe the hematological characteristics including peripheral blood and bone marrow findings of Yemeni adults and children with VL...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28894557/clinico-pathological-spectrum-and-novel-karyotypic-findings-in-myelodysplastic-syndrome-experience-of-tertiary-care-center-in-india
#7
Ruchi Gupta, Khaliqur Rahman, Manish Kumar Singh, Surabhi Kumari, Geeta Yadav, Soniya Nityanand
BACKGROUND: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by the presence of cytopenia/s. Limited data are available about the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinico-pathological, morphological and cytogenetic spectrum of Indian MDS patients. MATERIAL AND METHODS: A retrospective analysis of all patients diagnosed with MDS from June 2012 to December 2016 was performed...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28878816/a-child-with-anorexia-nervosa-presenting-with-severe-infection-with-cytopenia-and-hemophagocytosis-a-case-report
#8
Masao Suda, Shinichiro Nagamitsu, Masahiro Kinosita, Michiko Matsuoka, Shuichi Ozono, Yasushi Otsu, Yushiro Yamashita, Toyojiro Matsuishi
BACKGROUND: Patients with anorexia nervosa in the acute phase have physical complications, such as infectious disease. Although hemophagocytic syndrome due to infection is a rare complication in anorexia nervosa, early identification for hemophagocytosis is important for avoiding a life-threatening condition. CASE PRESENTATION: We report a case of a 12-year-old girl with anorexia nervosa presenting with infection with cytopenia and hemophagocytosis during initial nutritional therapy...
2017: BioPsychoSocial Medicine
https://www.readbyqxmd.com/read/28877261/myelodysplastic-syndrome-patients-present-more-severe-respiratory-muscle-impairment-and-reduced-forced-vital-capacity-is-disordered-inflammatory-signaling-the-culprit
#9
Bruno Memória Okubo, Anacélia Gomes de Matos, Howard Lopes Ribeiro Junior, Daniela de Paula Borges, Roberta Taiane Germano de Oliveira, Marilena Facundo de Castro, Manoel Ricardo Alves Martins, Romélia Pinheiro Gonçalves, Pedro Felipe Carvalhedo Bruin, Ronald Feitosa Pinheiro, Silvia Maria Meira Magalhães
BACKGROUND/OBJECTIVES: The ageing process is associated with gradual decline in respiratory system performance. Anemia is highly prevalent among older adults and usually associated with adverse outcomes. Myelodysplastic syndromes (MDS) are a heterogeneous group of hematologic malignancies with increasing incidence with age and characterized by anemia and other cytopenias. The main objectives of this study were to evaluate respiratory muscle strength and lung function in elderly patients with anemia, compare data between myelodysplastic syndromes and non-clonal anemias and evaluate the influence of serum IL-8 level and NF-kB activity on deteriorate pulmonary function in this specific population...
2017: PloS One
https://www.readbyqxmd.com/read/28871669/facilitated-subcutaneous-immunoglobulin-fscig-in-autoimmune-cytopenias-associated-with-common-variable-immunodeficiency
#10
Veronica Pedini, Isabella Savore, Giovanna Maria Danieli
BACKGROUND: Common variable immunodeficiency (CVID) is the most common symptomatic primary immune deficiency of adulthood. Besides recurrent infections, autoimmune disorders-mainly cytopenias-affect 30% of patients with CVID. OBJECTIVES: To describe the efficacy and safety of facilitated subcutaneous immunoglobulin (fSCIg), which is a combination of 10% [human] SCIg with recombinant human hyaluronidase for the treatment of CVID-linked cytopenias. METHODS: We describe four women (mean age 54 years) with CVID associated with idiopathic thrombocytopenic purpura (ITP) (n=3) and autoimmune hemolytic anemia (AIHA) (n=1)...
July 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28866671/autoimmune-myelofibrosis-clinical-features-course-and-outcome
#11
Caroline I Piatek, Maria E Vergara-Lluri, Vinod Pullarkat, Imran N Siddiqi, Casey O'Connell, Russell K Brynes, Donald I Feinstein
BACKGROUND: Autoimmune myelofibrosis (AIMF) is an underrecognized cause of nonmalignant bone marrow fibrosis which occurs in the presence or absence of a defined systemic autoimmune disease. Patients with AIMF present with cytopenias and autoantibodies, and have a distinctive nonclonal myelofibrosis on bone marrow examination. AIMF is distinguished from primary myelofibrosis by the absence of splenomegaly, eosinophilia, or basophilia, and the absence of abnormal myeloid, erythroid, or megakaryocytic morphology...
September 2, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28859036/hemophagocytic-lymphohistiocytosis-a-dangerous-intruder-in-pediatric-acute-lymphoblastic-leukemia
#12
Isabel Martínez-Romera, Marta Villa, Pilar Areal, Esther Rodrigo, Blanca Herrero, Blanca López-Ibor
Hemophagocytic lymphohistiocytosis (HLH) is a condition caused by a pathologic immune activation, which is responsible for its signs and symptoms. It may also appear as a secondary process caused by malignancy. Developing HLH during treatment for acute lymphoblastic leukemia (ALL) is extremely uncommon, but underdiagnosis may be fatal. Two patients with ALL on chemotherapy maintenance treatment who developed HLH triggered by infection are presented here. We emphasize the importance of being aware of this condition when a patient with ALL in complete remission presents with unexplained hepatomegaly, cytopenia, and fever...
August 30, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28842786/neutropenia-in-patients-with-common-variable-immunodeficiency-a-rare-event-associated-with-severe-outcome
#13
Aurélien Guffroy, Rachel Mourot-Cottet, Laurence Gérard, Vincent Gies, Chantal Lagresle, Aurore Pouliet, Patrick Nitschké, Sylvain Hanein, Boris Bienvenu, Valérie Chanet, Jean Donadieu, Martine Gardembas, Marina Karmochkine, Raphaele Nove-Josserand, Thierry Martin, Vincent Poindron, Pauline Soulas-Sprauel, Fréderic Rieux-Laucat, Claire Fieschi, Eric Oksenhendler, Isabelle André-Schmutz, Anne-Sophie Korganow
BACKGROUND: Common variable immunodeficiency (CVID) is characterized by infections and hypogammaglobulinemia. Neutropenia is rare during CVID. METHODS: The French DEFI study enrolled patients with primary hypogammaglobulinemia. Patients with CVID and neutropenia were retrospectively analyzed. RESULTS: Among 473 patients with CVID, 16 patients displayed neutropenia (lowest count [0-1400]*10(6)/L). Sex ratio (M/F) was 10/6. Five patients died during the follow-up (11 years) with an increased percentage of deaths compared to the whole DEFI group (31...
August 26, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28840983/diagnostics-and-prognostication-of-myelodysplastic-syndromes
#14
REVIEW
Gina Zini
MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as 'founder' mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28832236/icus-ccus-chip-basics-beyond
#15
Mili Jain, Anil Tripathi
Patients presenting with idiopathic cytopenia with non-diagnostic marrow morphology and a normal karyotype pose a diagnostic and therapeutic challenge. Additional diagnostic information from mutation analysis could provide important clinical insights. However, one has to be cautious during such diagnostic interpretations in view of the recent documentation of clonal somatic mutations in healthy elder individuals. Whether to regard clonality synonymous with malignant proliferation or a manifestation of ageing process is to be judged carefully...
September 1, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28830803/acute-promyelocytic-leukemia-in-a-patient-with-chronic-lymphocytic-leukemia-a-case-report
#16
Prajwal Boddu, Ellen Schlette, Beenu Thakral, Guillin Tang, Naveen Pemmaraju, Tapan Kadia, Alessandra Ferrajoli, Farhad Ravandi, William Wierda, Nitin Jain
Chronic lymphocytic leukemia (CLL) is known to be associated rarely with myeloid malignancies such as acute myelogenous leukemia. In this article, we report an extremely rare occurrence of acute promyelocytic leukemia in a patient with CLL. A 71-year-old man first presented to our clinic with a diagnosis of CLL and worsening motor neuropathy symptoms. It was suspected that his CLL might be contributing to the neuropathy as a paraneoplastic syndrome, and he was treated with rituximab monotherapy in weekly doses for the 1st month and monthly treatments thereafter...
August 16, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28825582/-thyroid-storm-associated-with-multiorganic-dysfunction
#17
Juan Camilo Baena, Jacobo Padilla, Guillermo Guzmán
Thyroid storm is a rare and potentially fatal condition. Unusual presentations in patients with thyroid storm have been described but multiorganic dysfunction is uncommonly seen. We describe the case of a 36-year-old woman with unknown underlying Graves's disease who developed thyroid storm. The thyroid storm score of Burch and Wartofsky was 50/140. This was complicated by acute liver failure, acute kidney injury, lactic acidosis, heart failure, bi-cytopenia, coagulopathy and rhabdomyolysis. The severe multiorgan dysfunction was reversed by prompt institution of steroids, cyclophosphamide and plasma exchange before thyroidectomy...
2017: Medicina
https://www.readbyqxmd.com/read/28822917/coexistence-of-aberrant-hematopoietic-and-stromal-elements-in-myelodysplastic-syndromes
#18
Salar Abbas, Archana Kini, Vivi M Srivastava, Marie Therese M, Sukesh C Nair, Aby Abraham, Vikram Mathews, Biju George, Sanjay Kumar, Aparna Venkatraman, Alok Srivastava
Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic disorders related to hematopoietic stem and progenitor cell dysfunction. Several studies have shown the role of the bone marrow microenvironment in regulating hematopoietic stem, and progenitor function and their individual abnormalities have been associated with disease pathogenesis. In this study, we simultaneously evaluated hematopoietic stem cells (HSC), hematopoietic stem progenitor cells (HSPCs) and different stromal elements in a cohort of patients with MDS-refractory cytopenia with multilineage dysplasia (RCMD)...
August 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28818807/early-treatment-initiation-in-lower-risk-myelodysplastic-syndromes-produces-an-earlier-and-higher-rate-of-transfusion-independence
#19
Christopher R Cogle, Sheila R Reddy, Eunice Chang, Elya Papoyan, Michael S Broder, Michael McGuire, Gary Binder
Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis resulting in refractory cytopenias. Red blood cell (RBC) transfusions can improve anemia; however, prolonged transfusion dependence (TD) is associated with increased morbidity and mortality. Disease-modifying therapy (DMT) for MDS can reduce transfusion requirements, although the optimum timing of DMT initiation is unclear. This retrospective study analyzed linked SEER registry and Medicare claims (2006-2012) to estimate the impact of DMT-initiation (azacitidine, decitabine, or lenalidomide) timing (≤ 3 vs...
September 2017: Leukemia Research
https://www.readbyqxmd.com/read/28817190/a-phase-1-and-2-study-of-filanesib-alone-and-in-combination-with-low-dose-dexamethasone-in-relapsed-refractory-multiple-myeloma
#20
Jatin J Shah, Jonathan L Kaufman, Jeffrey A Zonder, Adam D Cohen, William I Bensinger, Brandi W Hilder, Selena A Rush, Duncan H Walker, Brian J Tunquist, Kevin S Litwiler, Mieke Ptaszynski, Robert Z Orlowski, Sagar Lonial
BACKGROUND: Filanesib (ARRY-520) is a highly selective inhibitor of kinesin spindle protein, which has demonstrated preclinical antimyeloma activity. METHODS: This open-label Phase 1/2 study determined the maximum tolerated dose of Filanesib administered on Days 1 and 2 of 14-Day Cycles in patients with multiple myeloma (MM) and included expansion cohorts with and without dexamethasone (40 mg/week). Patients in the dose-escalation (N = 31) and Phase 2 single-agent (N = 32) cohorts had received prior bortezomib as well as prior thalidomide and/or lenalidomide...
August 17, 2017: Cancer
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