Germline CEBPA mutations in Korean patients with acute myeloid leukemia
CCAAT/enhancer binding protein alpha (CEBPA) mutations occur in 7.5% to 12.8% of de novo acute myeloid leukemia (AML) [1 –4]. Two types of mutations are possible: an N-terminal frame-shift mutation causing a 42-kDa isoform truncation and 30-kDa isoform overproduction and a C-terminal in-frame mutation in the basic leucine zipper (bZIP) region disrupting the DNA binding and dimerization of CEBPA [5]. CEBPA double mut ations (CEBPAdm) usually contain an N-terminal and a C-terminal mutation, which is now known to be a favorable prognostic factor [3]. (Source: Leukemia Research)
Source: Leukemia Research - December 11, 2018 Category: Hematology Authors: Hoon Seok Kim, Eunhee Han, Woori Jang, Myungshin Kim, Yonggoo Kim, Kyungja Han, Hee-Je Kim, Bin Cho Tags: Letter to the Editor Source Type: research

The management and outcomes of patients with myelodysplastic syndrome with persistent severe thrombocytopenia: An observational single centre registry study
Thrombocytopenia (platelets (Source: Leukemia Research)
Source: Leukemia Research - December 10, 2018 Category: Hematology Authors: Abi Vijenthira, Devyani Premkumar, Jeannie Callum, Yulia Lin, Richard A. Wells, Lisa Chodirker, Martha Lenis, Alexandre Mamedov, Rena Buckstein Tags: Research paper Source Type: research

Comparison of 18f fdg pet-ct and cect in pretreatment staging of adults with hodgkin ’s lymphoma
Hodgkin Lymphoma (HL) is a chemo-radiosensitive cancer with a five-year survival rate over 85% with current therapies [1]. However, there are serious long-term therapy related adverse events such as second cancers, cardiac and peripheral vascular disease, pulmonary disease, infertility, sexual dysfunction, etc. Therefore, it is extremely important to reduce the long-term side effects, reducing the amount and toxicity of poly-chemotherapies and improving staging procedures [2,3]. (Source: Leukemia Research)
Source: Leukemia Research - December 5, 2018 Category: Hematology Authors: Martina Panebianco, Oreste Bagni, Natalia Cenfra, Sergio Mecarocci, Elettra Ortu La Barbera, Luca Filippi, Giovanni Codacci-Pisanelli, Tommaso Biondi, Andrea Laghi, Giuseppe Cimino Tags: Research paper Source Type: research

Deferasirox in the treatment of iron overload during myeloproliferative neoplasms in fibrotic phase: does ferritin decrement matter?
Iron overload is a well-known critical issue in transfusion dependent patients affected by chronic hematological diseases, as thalassemic syndromes (TS)1ormyelodisplastic syndromes (MDS)2.Excess iron can be extremely toxic may cause organ damage in the absence of iron chelation therapy. Preclinical studies on the role of free iron toxicity on bone marrow function have shown that this condition leads to an accumulation of reactive oxygen species, interfers with the expression of genes encoding for hematopoiesis regulating proteins, and inhibits hematopoiesis. (Source: Leukemia Research)
Source: Leukemia Research - December 4, 2018 Category: Hematology Authors: Ambra Di Veroli, Alessia Campagna, Marianna De Muro, Malgorzata Monika Trawinska, Sabrina LeonettiCrescenzi, Luca Petriccione, Atelda Romano, Ada D ’Addosio, Antonia Cenfra, Marco Montanaro, Stefano Felici, Alessandro Andriani, Ida Carmosino, Pasquale N Tags: Research paper Source Type: research

MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations
GATA2 is a zinc finger transcription factor important for the production and maintenance of hematopoietic stem cells both in the embryo and during adult definitive hematopoiesis. It activates its own expression and thus hematopoietic cells are extremely sensitive the levels of GATA2 [1]. GATA2 binds to several downstream targets including SPI1 (PU.1), LMO2, TAL1, FLI1 and RUNX1 [2]. In humans, germline mutations have been shown to be the cause of the disorder known as GATA2 deficiency. Mutations across the gene, including missense, frameshift, nonsense, deletions, and regulatory variants lead to haploinsufficiency and dise...
Source: Leukemia Research - December 4, 2018 Category: Hematology Authors: Lisa J. McReynolds, Yanqin Yang, Hong Yuen Wong, Jingrong Tang, Yubo Zhang, Matthew P. Mul é, Janine Daub, Cindy Palmer, Ladan Foruraghi, Qingguo Liu, Jun Zhu, Weixin Wang, Robert R. West, Marielle E. Yohe, Amy P. Hsu, Dennis D. Hickstein, Danielle M. To Tags: Research paper Source Type: research

Hepatic and cardiac and iron overload detected by T2* magnetic resonance (MRI) in patients with myelodisplastic syndrome: a cross-sectional study
Myelodysplastic syndrome (MDS) is a heterogeneous group of disorders characterized by clonal, dysplastic, ineffective hematopoiesis and an increased propensity to develop acute myeloid leukemia (AML) [1]. Approximately 60% to 80% of patients with MDS experience symptomatic anemia, and 40% to 50% may develop transfusion-dependent anemia. Transfusion-dependent anemia is associated with the development of iron overload and decreased survival. However, iron overload may occur before patients become transfusion-dependent, since ineffective erythropoiesis suppress hepcidin production in the liver and may lead to increased iron a...
Source: Leukemia Research - December 4, 2018 Category: Hematology Authors: Luiz Fernando Mantovani, Fabio Pires de Souza Santos, Guilherme Fleury Perini, Claudia Mac-Donald Bley do Nascimento, Leandro de P ádua Silva, Carolina Kassab Wroclawski, Breno Pannia Esposito, Murilo Sérgio Sardo Ribeiro, Elvira Deolinda Rodrigues Pere Tags: Research paper Source Type: research

Impact of NPM1 mutation subtypes on treatment outcome: the Lyon-University Hospital experience
The nucleophosmin member 1 (NPM1) is an abundant multifunctional nucleolar protein involved in the maintenance of genome stability and ribosome biogenesis [1]. Mutations in the NPM1gene are detected in approximately one-third of all patients with acute myeloid leukemia (AML) and up to 60% of those with normal cytogenetics [2]. The gene encoding NPM1 is located on 5q35.1 and contains 12 exons. NPM1 is involved in epigenetic control, ribosomal protein assembly, and regulation of p53 tumor suppressor pathway [3]. (Source: Leukemia Research)
Source: Leukemia Research - November 29, 2018 Category: Hematology Authors: Ma ël Heiblig, Pierre Sujobert, Sandrine Hayette, Marie Balsat, Mohamed Elhamri, Gilles Salles, Xavier Thomas Tags: LETTER TO THE EDITOR Source Type: research

Ocular Manifestations in Acute Lymphoblastic Leukemia: A Five-Year Cohort Study of Pediatric Patients
Ocular manifestations in Acute Lymphoblastic Leukemia (ALL), varying from 43% to 90% depending on the study, are concerning because they are often silent [1,2]. Such manifestations often go unperceived since most patients are asymptomatic. Nevertheless, they can indicate a relapse or early worsening of the condition with a potential risk to the patient ’s sight. (Source: Leukemia Research)
Source: Leukemia Research - November 29, 2018 Category: Hematology Authors: Cristiano de Queiroz Mendon ça, Marcelle Vieira Freire, Simone Santana Viana, Mayo Kayann Guerra Silva Tavares, Wallace Marcelo Almeida Silva, Rosana Cipolotti Source Type: research

Efficacy and toxicity of decitabine in patients with acute myeloid leukemia (aml): a multicenter real-world experience
Acute myeloid leukemia (AML) treatment options for older patients with AML either for first line or in relapsed/refractory cases are limited, with very poor outcomes (1 –3). Elderly patients are often ineligible for intensive anti-leukemic chemotherapy (CHT) or participation to clinical trial due to poor performance status and/or organ dysfunction. This population has an increased incidence of pre-existing myelodysplastic syndrome (MDS), unfavorable cytogenetics and multi-drug-resistant phenotype, any of which can impair the efficacy of intensive antileukemic CHT (1–3). (Source: Leukemia Research)
Source: Leukemia Research - November 28, 2018 Category: Hematology Authors: Carla Fil ì, Anna Candoni, Maria Elena Zannier, Jacopo Olivieri, Silvia Imbergamo, Manuela Caizzi, Gianpaolo Nadali, Eros Di Bona, Anna Ermacora, Michele Gottardi, Davide Facchinelli, Rosanna Ciancia, Davide Lazzarotto, Maria Vittoria Dubbini, Gianluca F Tags: Research paper Source Type: research

Compound mutations involving T315I and P-loop mutations are the major components of multiple mutations detected in tyrosine kinase inhibitor resistant chronic myeloid leukemia
BCR-ABL1 kinase domain mutations are a major mechanism of tyrosine kinase inhibitor (TKI) resistance in patients with chronic myeloid leukemia (CML). These mutations interfere the binding of TKIs to the binding site [1 –3]. To date, various studies have shown that some of these mutations are strongly related to clinical resistance [2–5], and the sensitivity to different TKIs is dependent on the type of mutation [6–10]. Patients with multiple mutations have poorer prognosis than patients with a single mutatio n [11,12]. (Source: Leukemia Research)
Source: Leukemia Research - November 27, 2018 Category: Hematology Authors: Ki-Hoon Kang, Soo-Hyun Kim, Soo-Young Choi, Hae-Lyun Yoo, Mi-Young Lee, Hye-Young Song, Kyung-Mi Kee, Ji-Hyung Suh, Seon-Young Yang, Eun-Jung Jang, Sung-Eun Lee, Dong-Wook Kim Tags: Research paper Source Type: research

Immunophenotypic measurable residual disease (MRD) in acute myeloid leukemia: Is multicentric MRD assessment feasible?
Acute myeloid leukemia (AML) is a heterogeneous malignant disease characterized by the accumulation of immature myeloid progenitor cells, which leads to anemia, thrombocytopenia and impaired immunity. Treatment with intensive chemotherapy regimens of adult AML patients who are 60 years of age or younger results in hematologic remission in about 70-90% of patients, but at least 30% of these patients will experience a relapse [1]. Remaining cells in the bone marrow after chemotherapy treatment are thought to be responsible for the relapse. (Source: Leukemia Research)
Source: Leukemia Research - November 27, 2018 Category: Hematology Authors: Rik A. Brooimans, Vincent H.J. van der Velden, Nancy Boeckx, Jennita Slomp, Frank Preijers, Jeroen G. te Marvelde, Ngoc M. Van, Antoinette Heijs, Erik Huys, Bronno van der Holt, Georgine E. de Greef, Angele Kelder, Gerrit Jan Schuurhuis Tags: Research paper Source Type: research

Editorial Board
(Source: Leukemia Research)
Source: Leukemia Research - November 24, 2018 Category: Hematology Source Type: research

Does Hydroxycarbamide therapy really induce leukemic transformation in patients with essential thrombocythemia?
Hydroycarbamide (HC) has been used extensively to treat patients with myeloproliferative neoplasms (MPNs) for over 4 decades. Since HC is a chemotherapeutic agent there continues to be concern that use of this agent may increase the risk of patients developing a form of acute leukemia. The BCR-ABL1-negative MPNs including polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis (MF) are clonal hematopoietic stem cell disorders which have the potential to progress to acute myeloid leukemia, termed MPN-blast phase (BP). (Source: Leukemia Research)
Source: Leukemia Research - November 22, 2018 Category: Hematology Authors: B. Marcellino, R. Hoffman, J. Mascarenhas Tags: Commentary Source Type: research

Characterization of acute myeloid leukemia with del(9q) – impact of the genes in the minimally deleted region
Acute myeloid leukemia (AML)1 arises from clonal expansion of malignant hematopoietic precursor cells of the bone marrow. The broad variety of clinical features is the result of different alterations in multiple cellular pathways. This leads to a wide range of subgroups and different treatment options. Recent studies revealed distinct molecular subgroups of AML harboring single or combined somatic mutations [1]. The deletion of a portion of the long arm of chromosome 9, del(9q), is a recurring abnormality in malignant myeloid diseases reported in approximately 2% of AML cases [2]. (Source: Leukemia Research)
Source: Leukemia Research - November 17, 2018 Category: Hematology Authors: Isabel S. Naarmann-de Vries, Yvonne Sackmann, Felicitas Klein, Antje Ostareck-Lederer, Dirk H. Ostareck, Edgar Jost, Gerhard Ehninger, Tim H. Br ümmendorf, Gernot Marx, Christoph Röllig, Christian Thiede, Martina Crysandt Tags: Research paper Source Type: research

In vitro stability of arsenic trioxide-liposome encapsulates for acute promyelocytic leukemia treatment
Acute promyelocytic leukemia (APL) is characterized by the t(15;17) chromosomal translocation, leading to the formation of the promyelocytic leukemia-specific-retinoic acid receptor alpha (PML-RAR α or RARA) gene and is distinguished from other forms of PML by its responsiveness to all-trans retinoic acid (ATRA, also known as Tretinoin) therapy. It is a unique subtype of APL and accounts for about 10% of all acute myeloid leukemia (AML) cases in adults [1]. Promyelocytic leukemia was first d escribed in 1957 [2] as a fatal illness with a median survival time of less than a week. (Source: Leukemia Research)
Source: Leukemia Research - November 16, 2018 Category: Hematology Authors: Francisco Cunha da Rosa, Renan Buque Pardinho, Mauber Eduardo Schultz Moreira, Luiz Gustavo Teixeira de Souza, Érico Marlon de Moraes Flores, Sergio Roberto Mortari, Valderi Luiz Dressler Source Type: research