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myeloproliferative syndromes

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https://www.readbyqxmd.com/read/28548124/oligomonocytic-chronic-myelomonocytic-leukemia-chronic-myelomonocytic-leukemia-without-absolute-monocytosis-displays-a-similar-clinicopathologic-and-mutational-profile-to-classical-chronic-myelomonocytic-leukemia
#1
Julia T Geyer, Wayne Tam, Yen-Chun Liu, Zhengming Chen, Sa A Wang, Carlos Bueso-Ramos, Jean Oak, Daniel A Arber, Eric Hsi, Heesun J Rogers, Katherine Levinson, Adam Bagg, Duane C Hassane, Robert P Hasserjian, Attilio Orazi
Chronic myelomonocytic leukemia is characterized by persistent absolute monocytosis (≥1 × 10(9)/l) in the peripheral blood and dysplasia in ≥1 lineages. In the absence of dysplasia, an acquired clonal genetic abnormality is required or causes for reactive monocytosis have to be excluded. Oligomonocytic chronic myelomonocytic leukemia showing increased monocytes but no absolute monocytosis in the peripheral blood occurs occasionally. These cases are likely classified as myelodysplastic syndrome or myelodysplastic/myeloproliferative neoplasm, unclassifiable...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28546881/haematological-malignancies-in-systemic-sclerosis-patients-case-reports-and-review-of-the-world-literature
#2
M Colaci, D Giuggioli, C Vacchi, C Ferri
Background. The association of systemic sclerosis (SSc) and haematological cancers was reported in a large number of case reports and cohort studies, describing SSc patients with highly heterogeneous clinical pictures. Objective. We reviewed the literature to better describe SSc patients with haematological malignancies. Methods. SSc cases complicated by haematological malignancies described in the world literature were collected; other 2 cases referred to our centre were reported. Results. One hundred-thirty SSc subjects were collected from 1954 up to date...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28546866/a-diagnostic-protocol-designed-for-determining-allergic-causes-in-patients-with-blood-eosinophilia
#3
Jean-François Magnaval, Guy Laurent, Noémie Gaudré, Judith Fillaux, Antoine Berry
BACKGROUND: Blood eosinophilia is a common laboratory abnormality, and its characterization frequently represents a quandary for primary care physicians. Consequently, in France, specialists and particularly hematologists, often must investigate patients who present with blood eosinophilia that often, but not always, occurs because of allergic causes. Both the Departments of Hematology and Parasitology at Toulouse University Hospitals established a collaboration to rule out allergic causes of eosinophilia, particularly helminthiases, prior to initiating more sophisticated investigations...
2017: Military Medical Research
https://www.readbyqxmd.com/read/28527983/when-a-death-apparently-associated-to-sexual-assault-is-instead-a-natural-death-due-to-idiopathic-hypereosinophilic-syndrome-the-importance-of-gamma-hydroxybutyric-acid-analysis-in-vitreous-humor
#4
Francesco Paolo Busardò, Francesca Portelli, Angelo Montana, Maria Concetta Rotolo, Simona Pichini, Emiliano Maresi
We here report a case involving a 21-year-old female, found dead in a central square of a city in the south of Italy. Initial evidences and circumstances were suggestive of a death associated with a sexual assault. Two peripheral blood and two vitreous humor samples were collected for the purpose of gamma-hydroxybutyric acid (GHB) testing from the dead body at two different post-mortem intervals (PMIs): approximately 2 (t0) and 36 (t1) hours. The obtained results showed that, between t0 and t1, there was an increase of GHB concentrations in peripheral blood and vitreous humor of 66...
April 11, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28495918/bone-marrow-morphology-is-a-strong-discriminator-between-chronic-eosinophilic-leukemia-not-otherwise-specified-from-reactive-idiopathic-hypereosinophilic-syndrome
#5
Sa A Wang, Robert P Hasserjian, Wayne Tam, Albert G Tsai, Julia T Geyer, Tracy I George, Kathryn Foucar, Heesun J Rogers, Eric D Hsi, Bryan A Rea, Adam Bagg, Carlos Bueso-Ramos C, Daniel A Arber, Srdan Verstovsek, Attilio Orazi
Chronic eosinophilic leukemia, not otherwise specified can be difficult to distinguish from idiopathic hypereosinophilic syndrome according to the current World Health Organization guideline. To examine if BM morphological features might aid in the differential diagnosis of these two entities, we studied a total of 139 patients with a diagnosis of chronic eosinophilic leukemia, not otherwise specified (n=17) or idiopathic hypereosinophilic syndrome (n=122). As a group, abnormal BM morphological features, resembling myelodysplastic syndromes, myeloproliferative neoplasm or myelodysplastic/myeloproliferative neoplasm were identified in 40/139 (27%) patients, 16(94%) chronic eosinophilic leukemia and 24 (20%) hypereosinophilic syndrome...
May 11, 2017: Haematologica
https://www.readbyqxmd.com/read/28482711/the-presence-of-monoclonal-gammopathy-in-ph-negative-myeloproliferative-neoplasms-is-associated-with-a-detrimental-effect-on-outcomes
#6
Lenaïg Le Clech, Mehdi Sakka, Ahmed Meskar, Helene Kerspern, Jean-Richard Eveillard, Christian Berthou, Caroline Buors, Eric Lippert, Gaelle Guillerm, Isabelle Quintin-Roué, Jean-Luc Carré, Jean-Christophe Ianotto
Many case reports have indicated the occurrence of monoclonal gammopathy of uncertain significance (MGUS) or multiple myeloma (MM) in patients with Ph-negative myeloproliferative neoplasms (MPN), but few cohorts of patients have been published. This study concerns 667 patients newly diagnosed with polycythemia vera (PV) or essential thrombocythemia (ET) who were tested for monoclonal (M) protein at diagnosis (13.9% of patients). The overall survival of patients with M protein was dramatically lower than that of patients without M protein (12...
May 9, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28455647/cmml-clinical-and-molecular-aspects
#7
REVIEW
Raphael Itzykson, Matthieu Duchmann, Nolwenn Lucas, Eric Solary
Chronic Myelomonocytic Leukemia is a chronic myeloid neoplasm occurring mostly in the elderly with overlapping features of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) characterized by chronic monocytosis. Recent progresses in the molecular and cellular pathogenesis of CMML have stirred a renewed interest in this clinically heterogeneous disorder. Here, we review the recent progresses in the biology of CMML and how it affects its current and future clinical management.
June 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28447248/somatic-setbp1-mutations-in-myeloid-neoplasms
#8
REVIEW
Hideki Makishima
SETBP1 is a SET-binding protein regulating self-renewal potential through HOXA-protein activation. Somatic SETBP1 mutations were identified by whole exome sequencing in several phenotypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), including atypical chronic myeloid leukemia, chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia as well as in secondary acute myeloid leukemia (sAML). Surprisingly, its recurrent somatic activated mutations are located at the identical positions of germline mutations reported in congenital Schinzel-Giedion syndrome...
June 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28446312/-clinical-characteristics-and-gene-mutations-of-gilbert-syndrome-complicated-with-myeloproliferative-neoplasm
#9
Xing-Xin Li, Jun Shi, Zhen-Dong Huang, Ying-Qi Shao, Neng Nie, Jing Zhang, Mei-Li Ge, Jin-Bo Huang, Yi-Zhou Zheng
OBJECTIVE: To investigate the clinical characteristics and gene mutations of patients with Gilbert syndrome complicated with myeloproliferative neoplasms (MPN). METHODS: Peripheral blood samples from 1 patient with Gilbert syndrome complicated with MPN and his son were collected to analyse all exon mutations of UGT1A1 gene. RESULTS: The patient with leukocytosis, thrombocythemia, mild anemia and positive JAK2/V617F mutation was initially diagnosed as MPN...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28415666/azacitidine-or-intensive-chemotherapy-for-older-patients-with-secondary-or-therapy-related-acute-myeloid-leukemia
#10
Pierre-Yves Dumas, Sarah Bertoli, Emilie Bérard, Clémence Médiavilla, Edwige Yon, Suzanne Tavitian, Thibaut Leguay, Françoise Huguet, Edouard Forcade, Noël Milpied, Audrey Sarry, Mathieu Sauvezie, Pierre Bories, Arnaud Pigneux, Christian Récher
The treatment of older patients with acute myeloid leukemia that is secondary to previous myelodysplastic syndrome, myeloproliferative neoplasm, or prior cytotoxic exposure remains unsatisfactory. We compared 92 and 107 patients treated, respectively, with intensive chemotherapy or azacitidine within two centres. Diagnoses were 37.5% post-myelodysplastic syndrome, 17.4% post-myeloproliferative neoplasia, and 45.1% therapy-related acute myeloid leukemia. Patients treated by chemotherapy had less adverse cytogenetics, higher white blood-cell counts, and were younger: the latter two being independent factors entered into the multivariate analyses...
March 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28408397/the-il-31-il-31-receptor-axis-general-features-and-role-in-tumor-microenvironment
#11
REVIEW
Elisa Ferretti, Anna Corcione, Vito Pistoia
IL-31 is a recently identified cytokine with a well-defined role in the pathogenesis of pruritus. IL-31, whose production is induced by IL-4 and IL-33, binds a heterodimeric receptor (R) composed of the exclusive IL-31RA chain and the shared oncostatin M R. Signaling through the IL-31R involves the MAPK, PI3K/AKT and Jak/STAT pathways. Different variants and isoforms of IL-31RA with different signaling activities have been identified. IL-31 is produced predominantly by circulating Th2 lymphocytes and skin-homing CLA(+)CD45RO(+) T cells...
April 13, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28396661/phenotype-of-nk-like-cd8-t-cells-with-innate-features-in-humans-and-their-relevance-in-cancer-diseases
#12
Alice Barbarin, Emilie Cayssials, Florence Jacomet, Nicolas Gonzalo Nunez, Sara Basbous, Lucie Lefèvre, Myriam Abdallah, Nathalie Piccirilli, Benjamin Morin, Vincent Lavoue, Véronique Catros, Eliane Piaggio, André Herbelin, Jean-Marc Gombert
Unconventional T cells are defined by their capacity to respond to signals other than the well-known complex of peptides and major histocompatibility complex proteins. Among the burgeoning family of unconventional T cells, innate-like CD8(+) T cells in the mouse were discovered in the early 2000s. This subset of CD8(+) T cells bears a memory phenotype without having encountered a foreign antigen and can respond to innate-like IL-12 + IL-18 stimulation. Although the concept of innate memory CD8(+) T cells is now well established in mice, whether an equivalent memory NK-like T-cell population exists in humans remains under debate...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28374041/imatinib-treatment-of-lymphomatoid-papulosis-associated-with-myeloproliferative-hypereosino-philic-syndrome-presenting-the-fip1l1-pdgfra-fusion-gene
#13
Pablo García-Martínez, Dolors Sitjas, Enric Llistosella, Blanca Espinet, María Rodríguez-Rivera, Maria Hernandez-Muñoz, Fernando Gallardo, Ramon M Pujol
is missing (Short communication).
April 4, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28372919/hematologic-malignancies-are-associated-with-adverse-perioperative-outcomes-after-total-hip-arthroplasty
#14
Jared M Newman, Jaiben George, W Trevor North, Suparna M Navale, Alison K Klika, Wael K Barsoum, Carlos A Higuera
BACKGROUND: Advancements in treating hematologic malignancies have improved survival, and these patients may be part of the growing population undergoing total hip arthroplasty (THA). Therefore, the purpose of this study was to evaluate the perioperative outcomes of THA in patients with hematologic malignancies. METHODS: The Nationwide Inpatient Sample identified patients who underwent THA from 2000 to 2011 (n = 2,864,412). Patients diagnosed with any hematologic malignancy (n = 18,012) were further stratified into Hodgkin disease (n = 786), non-Hodgkin lymphoma (n = 5062), plasma cell dyscrasias (n = 2067), leukemia (n = 5644), myeloproliferative neoplasms (n = 3552), and myelodysplastic syndromes (n = 1082)...
March 11, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28355402/budd-chiari-syndrome-secondary-to-catheter-associated-inferior-vena-cava-thrombosis
#15
Gustavo N Araujo, Luciane M Restelatto, Carlos A Prompt, Cristina Karohl
INTRODUCTION: Patients with chronic kidney disease (CKD) are at increased risk for thrombotic complications. The use of central venous catheters as dialysis vascular access additionally increases this risk. We describe the first case of Budd-Chiari syndrome (BCS) secondary to central venous catheter misplacement in a patient with CKD. CASE REPORT: A 30-year-old female patient with HIV/AIDS and CKD on hemodialysis was admitted to the emergency room for complaints of fever, prostration, and headache in the last six days...
March 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/28338652/3q26-2-evi1-rearrangement-is-associated-with-poor-prognosis-in-classical-philadelphia-chromosome-negative-myeloproliferative-neoplasms
#16
Zhihong Hu, L Jeffrey Medeiros, Wei Wang, Zi Chen, Guilin Tang, Parsa Hodjat, Su Yang, Lianghua Fang, Yan Li, Srdan Verstovsek, Shimin Hu
Classical Philadelphia chromosome-negative myeloproliferative neoplasms are a group of closely related myeloid disorders with different histologic features and clinical presentations at an early stage, but all later develop into a similar fibrotic stage with variable risk of acute transformation. The significance of 3q26.2/EVI1 rearrangement has been well recognized in acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28331226/the-histone-deacetylase-inhibitor-givinostat-itf2357-exhibits-potent-anti-tumor-activity-against-crlf2-rearranged-bcp-all
#17
A M Savino, J Sarno, L Trentin, M Vieri, G Fazio, M Bardini, C Bugarin, G Fossati, K Davis, G Gaipa, S Izraeli, L H Meyer, G P Nolan, A Biondi, G Te Kronnie, C Palmi, G Cazzaniga
Leukemias bearing CRLF2 and JAK2 gene alterations are characterized by aberrant JAK/STAT signaling and poor prognosis. The HDAC inhibitor givinostat/ITF2357 has been shown to exert antineoplastic activity against both systemic juvenile idiopathic arthritis and myeloproliferative neoplasms through inhibition of the JAK/STAT pathway. These findings led us to hypothesize that givinostat might also act against CRLF2-rearranged BCP-ALL, which lack effective therapies. Here, we found that givinostat inhibited proliferation and induced apoptosis of BCP-ALL CRLF2-rearranged cell lines, positive for exon 16 JAK2 mutations...
March 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28314085/targeted-next-generation-sequencing-and-identification-of-risk-factors-in-world-health-organization-defined-atypical-chronic-myeloid-leukemia
#18
Mrinal M Patnaik, Daniela Barraco, Terra L Lasho, Christy M Finke, Kaaren Reichard, Katherine P Hoversten, Rhett P Ketterling, Naseema Gangat, Ayalew Tefferi
Atypical chronic myeloid leukemia (aCML) is an aggressive myeloid neoplasm with overlapping features of myelodysplastic syndromes (prominent granulocytic dysplasia) and myeloproliferative neoplasms (neutrophilic leukocytosis). We studied 25 molecularly-annotated and World Health Organization defined aCML patients; median age 70 years, 84% males. Cytogenetic abnormalities were seen in 36% and gene mutations in 100%. Mutational frequencies were, ASXL1 28%, TET2 16%, NRAS 16%, SETBP1 12%, RUNX1 12%, ETNK1 8%, and PTPN11 4%...
June 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28299663/runx1-and-cbf%C3%AE-mutations-and-activities-of-their-wild-type-alleles-in-aml
#19
R Katherine Hyde, Paul Liu, Alan D Friedman
Mutations in RUNX1 and CBFB have long been recognized as important in hematological malignancies. Point mutations and deletions of RUNX1 are frequently found in myelodysplastic syndrome, myeloproliferative disease, and acute myeloid leukemia. Germline mutations in RUNX1 are associated with familial platelet disorder with predisposition to AML. In addition, as will be discussed in other chapters, both RUNX1 and CBFB are involved in recurrent chromosomal rearrangements in leukemia. More recently, roles for the non-mutated RUNX1 and CBFB genes have been identified in multiple leukemia subtypes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28267084/monocyte-chemoattractant-protein-1-mcp-1-as-a-potential-therapeutic-target-and-a-noninvasive-biomarker-of-liver-fibrosis-associated-with-transient-myeloproliferative-disorder-in-down-syndrome
#20
Kenichiro Kobayashi, Takako Yoshioka, Jun Miyauchi, Atsuko Nakazawa, Shigeaki Yamazaki, Hiromi Ono, Michiko Tatsuno, Kenta Iijima, Chiaki Takahashi, Yoko Okada, Kenji Teranishi, Takaaki Matsunaga, Chieko Matsushima, Mayo Inagaki, Minoru Suehiro, Saori Suehiro, Masahiko Nishitani, Hirohito Kubota, Jun Iio, Yoshinobu Nishida, Tetsuo Katayama, Narito Takada, Kentaro Watanabe, Tetsuro Yamamoto, Ryoji Yasumizu, Kentaro Matsuoka, Kentaro Ohki, Nobutaka Kiyokawa, Toshiro Maihara, Ikuya Usami
Liver fibrosis is one of the common complications of transient myeloproliferative disorder (TMD) in Down syndrome (DS), but the exact molecular pathogenesis is largely unknown. We herein report a neonate of DS with liver fibrosis associated with TMD, in which we performed the serial profibrogenic cytokines analyses. We found the active monocyte chemoattractant protein-1 expression in the affected liver tissue and also found that both serum and urinary monocyte chemoattractant protein-1 concentrations are noninvasive biomarkers of liver fibrosis...
March 6, 2017: Journal of Pediatric Hematology/oncology
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