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https://www.readbyqxmd.com/read/29767839/jak2-v617f-positive-acute-myeloid-leukaemia-aml-a-comparison-between-de-novo-aml-and-secondary-aml-transformed-from-an-underlying-myeloproliferative-neoplasm-a-study-from-the-bone-marrow-pathology-group
#1
Jason Aynardi, Rashmi Manur, Paul R Hess, Seble Chekol, Jennifer J D Morrissette, Daria Babushok, Elizabeth Hexner, Heesun J Rogers, Eric D Hsi, Elizabeth Margolskee, Attilio Orazi, Robert Hasserjian, Adam Bagg
The JAK2 V617F mutation is characteristic of most Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) and occurs rarely in de novo acute myeloid leukaemia (AML). We sought to characterize AMLs that harbour this mutation and distinguish those that arise de novo (AML-DN) from those that reflect transformation of an underlying MPN (AML-MPN). Forty-five patients with JAK2 V617F-mutated AML were identified; 15 were AML-DN and 30 were AML-MPN. AML-MPN cases were more likely to have splenomegaly (P = 0·02), MPN-like megakaryocytes and higher mean JAK2 V617F VAF at diagnosis (P = 0·04)...
May 16, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29761371/tolerability-and-efficacy-of-deferasirox-in-patients-with-transfusional-iron-overload-results-from-a-german-2-year-non-interventional-study
#2
Florian Nolte, Holger Nückel, Burkhard Schmidt, Thomas Geer, Oleg Rubanov, Holger Hebart, Andrea Jarisch, Stefan Albrecht, Christiane Johr, Christiane Schumann, Wolf-Karsten Hofmann
BACKGROUND: Iron overload (IOL) due to repetitive transfusions of packed red blood cells (pRBC) has a major impact on morbidity and mortality in patients with inherited bone marrow failure syndromes and hemoglobinopathies such as thalassemia and sickle cell disease. However, whether IOL influences the outcome of elderly patients with myeloid malignancies is not yet clear. Moreover, clinical trials have reported high drop-out rates during treatment with the oral iron chelator deferasirox (DFX)...
May 14, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29743489/magnetic-mesoporous-calcium-sillicate-chitosan-porous-scaffolds-for-enhanced-bone-regeneration-and-photothermal-chemotherapy-of-osteosarcoma
#3
Fan Yang, Jiawei Lu, Qinfei Ke, Xiaoyuan Peng, Yaping Guo, Xuetao Xie
The development of multifunctional biomaterials to repair bone defects after neoplasm removal and inhibit tumor recurrence remained huge clinical challenges. Here, we demonstrate a kind of innovative and multifunctional magnetic mesoporous calcium sillicate/chitosan (MCSC) porous scaffolds, made of M-type ferrite particles (SrFe12 O19 ), mesoporous calcium silicate (CaSiO3 ) and chitosan (CS), which exert robust anti-tumor and bone regeneration properties. The mesopores in the CaSiO3 microspheres contributed to the drug delivery property, and the SrFe12 O19 particles improved photothermal therapy (PTT) conversion efficacy...
May 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29741776/skewed-megakaryopoiesis-in-human-induced-pluripotent-stem-cell-derived-haematopoietic-progenitor-cells-harbouring-calreticulin-mutations
#4
Hiraku Takei, Yoko Edahiro, Shuichi Mano, Nami Masubuchi, Yoshihisa Mizukami, Misa Imai, Soji Morishita, Kyohei Misawa, Tomonori Ochiai, Satoshi Tsuneda, Hiroshi Endo, Sou Nakamura, Koji Eto, Akimichi Ohsaka, Marito Araki, Norio Komatsu
Somatic mutations in the calreticulin (CALR) gene have been found in most patients with JAK2- and MPL-unmutated Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). It has recently been shown that mutant CALR constitutively activates the thrombopoietin receptor MPL and, thus, plays a causal role in the development of MPNs. However, the roles of mutant CALR in human haematopoietic cell differentiation remain predominantly elusive. To examine the impact of the 5-base insertion mutant CALR gene (Ins5) on haematopoietic cell differentiation, we generated induced pluripotent stem cells from an essential thrombocythaemia (ET) patient harbouring a CALR-Ins5 mutation and from a healthy individual (WT)...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29741774/management-of-post-transplant-lymphoproliferative-disorders
#5
REVIEW
Christin B DeStefano, Sanjal H Desai, Aarthi G Shenoy, Joseph P Catlett
The post-transplant lymphoproliferative disorders (PTLDs) are a heterogeneous group of neoplasms that are one of the most serious complications of bone marrow and solid organ transplants. Because these disorders are rare, there are no randomized trials from which to derive optimal treatment. Management can be challenging and must balance the goal of PTLD eradication with the risks of graft rejection, graft-versus-host disease, further delays in immune reconstitution and life-threatening infections, among others...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29741203/peptide-receptor-radionuclide-therapy-for-advanced-gastroenteropancreatic-neuroendocrine-tumors-from-oncology-perspective
#6
Agnieszka Kolasińska-Ćwikła, Anna Łowczak, Katarzyna Maciejkiewicz Maciejkiewicz, Jarosław Bogdan Ćwikła
Peptide Receptor Radionuclide Therapy (PRRT) is a form of molecular targeted therapy which is performed by using a small peptide (somatostatin analogue - SSA) that is coupled with a radionuclide beta emitting radiation. PRRT is a nuclear medicine for the systemic treatment of non-resectable, metastasized well/moderately differentiated, neuroendocrine tumours (NET) with overexpression of somatostatin receptor. These types of tumours include gastroenteropancreatic neoplasm (GEP-NENs), e.g. arising from the small bowel (often called carcinoid tumours), the pancreas, duodenum or stomach, but also from the large bowel or the lung and many other tissues (so called diffuse neuroendocrine system)...
2018: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/29735506/blastic-plasmacytoid-dendritic-cell-neoplasm-a-rare-case-of-gingival-lesion-with-leukaemic-presentation
#7
Massimo Viviano, Serena Cocca, Clelia Miracco, Stefano Parrini
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare haematological malignancy with an aggressive clinical course. It has been recognised as a distinct entity in the WHO 2008 classification of haematolymphoid neoplasm. This disease usually presents with cutaneous involvement as the first manifestation, with subsequent or simultaneous spread to bone marrow and peripheral blood with leukaemic dissemination. Gingival lesion as the first manifestation, in the absence of a cutaneous lesion, is an uncommon presentation of this rare disease...
May 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29732039/jak-2-mutation-frequency-in-patients-with-thrombocytosis
#8
Osman Yokus, Habip Gedik
Background: We aimed to investigate the etiologic causes and the existence of Janus kinase 2 mutation (JAK2) in cases with thrombocytosis. Methods: In this retrospective study, patients who were admitted to hematology clinic with thrombocytosis between 2013 and 2015 were investigated in terms of the etiological causes of thrombocytosis and the existence of JAK2 mutation. Results: We retrospectively evaluated 136 cases that underwent JAK2 mutation analysis due to ET preliminary diagnosis in our hematology clinic...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29731882/autologous-stem-cell-transplantation-in-ebv-positive-post-renal-transplant-refractory-multiple-myeloma-a-case-report-and-literature-review
#9
Xiaobao Xie, Yan Lin, Yang Cao, Weimin Dong, Wei Wu, Yuandong Zhu, Deliang Liu, Haiqian Li, Qing Li, Weiying Gu
Renal transplant recipients exhibit an increased risk of developing plasma cell neoplasms (PCNs; comprising multiple myeloma and plasmacytoma); however, multiple myeloma manifesting with refractory extramedullary plasmacytomas associated with Epstein-Barr virus are markedly rare in these patients. In the present case report, an unusual case of refractory multiple myeloma with multiple extramedullary plasmacytoma (including liver, vertebrae, breast, muscle, skin and soft tissues) was presented. The patient exhibited mild bone marrow infiltration which was successfully treated with novel agents, including bortezomib and lenalidomide, followed by autologous stem cell transplantation (ASCT)...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29728434/focal-segmental-glomerulosclerosis-in-a-patient-with-prefibrotic-primary-myelofibrosis
#10
Gopal Krishana Bohra, Durga Shankar Meena, Nitin Bajpai, Abhishek Purohit
We report a case of 56-year-old man presented to us with chief complaints of frothy urine and leg swelling. A urinalysis revealed nephrotic-range proteinuria. Haematological investigations revealed thrombocytosis, leucocytosis and peripheral blood smear showed a leucoerythroblastic picture. JAK 2 mutation was positive. To confirm the diagnosis of myeloproliferative neoplasm, bone marrow biopsy was done, which was suggestive of primary myelofibrosis. The patient underwent kidney biopsy due to rapidly declining renal function and persistent proteinuria, which was suggestive of focal segmental glomerulosclerosis...
May 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29727699/pyrosequencing-based-quantitative-measurement-of-calr-mutation-allele-burdens-and-their-clinical-implications-in-patients-with-myeloproliferative-neoplasms
#11
Yejin Oh, Ik-Chan Song, Jimyung Kim, Gye Cheol Kwon, Sun Hoe Koo, Seon Young Kim
BACKGROUND: We developed a pyrosequencing-based method for the quantification of CALR mutations and compared the results using Sanger sequencing, fragment length analysis (FLA), digital-droplet PCR (ddPCR), and next-generation sequencing (NGS). METHODS: Method validation studies were performed using cloned plasmid controls. Samples from 24 patients with myeloproliferative neoplasms were evaluated. RESULTS: Among the 24 patients, 15 had CALR mutations (7 type 1, 2 type 2, and 6 other mutations)...
May 1, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29707521/evaluation-by-flow-cytometry-of-mature-monocyte-subpopulations-for-the-diagnosis-and-follow-up-of-chronic-myelomonocytic-leukemia
#12
Tiphanie Picot, Carmen Mariana Aanei, Pascale Flandrin Gresta, Pauline Noyel, Sylvie Tondeur, Emmanuelle Tavernier Tardy, Denis Guyotat, Lydia Campos Catafal
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm, characterized by persistent monocytosis and dysplasia in at least one myeloid cell lineage. This persistent monocytosis should be distinguished from the reactive monocytosis which is sometimes observed in a context of infections or solid tumors. In 2015, Selimoglu-Buet et al. observed an increased percentage of classical monocytes (CD14+ /CD16- >94%) in the peripheral blood (PB) of CMML patients. In this study, using multiparametric flow cytometry (MFC), we assessed the monocytic distribution in PB samples and in bone marrow aspirates from 63 patients with monocytosis or CMML suspicion, and in seven follow-up blood samples from CMML patients treated with hypomethylating agents (HMA)...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29706577/spred1-safeguards-hematopoietic-homeostasis-against-diet-induced-systemic-stress
#13
Yuko Tadokoro, Takayuki Hoshii, Satoshi Yamazaki, Koji Eto, Hideo Ema, Masahiko Kobayashi, Masaya Ueno, Kumiko Ohta, Yuriko Arai, Eiji Hara, Kenichi Harada, Masanobu Oshima, Hiroko Oshima, Fumio Arai, Akihiko Yoshimura, Hiromitsu Nakauchi, Atsushi Hirao
Stem cell self-renewal is critical for tissue homeostasis, and its dysregulation can lead to organ failure or tumorigenesis. While obesity can induce varied abnormalities in bone marrow components, it is unclear how diet might affect hematopoietic stem cell (HSC) self-renewal. Here, we show that Spred1, a negative regulator of RAS-MAPK signaling, safeguards HSC homeostasis in animals fed a high-fat diet (HFD). Under steady-state conditions, Spred1 negatively regulates HSC self-renewal and fitness, in part through Rho kinase activity...
April 18, 2018: Cell Stem Cell
https://www.readbyqxmd.com/read/29668469/moleculary-confirmed-cytogenetic-remission-in-a-case-with-myelodysplastic-syndrome-treated-with-azacitidne
#14
Irina Panovska-Stavridis, Martin Ivanovski, Sanja Trajkova, Aleksandra Pivkova-Veljanovska, Marija Popova-Labaceska, Nadica Matevska-Geshovska, Predrag Noveski, Dijana Plaseska-Karanfilska, Lidija Cevreska, Aleksandar J Dimovski
Myelodysplastic syndrome (MDS) is a diverse group of clonal hematologic neoplasms. The only curative treatment for MDS is allogeneic stem cell transplantation (SCT). Epigenetic changes play an important role in the pathogenesis of MDS and treatment with DNA methyl transferase inhibitors, Azacitidine, significantly prolong the survival of high-risk MDS patients. Here we report a case of a 58-year-old male presented with pancytopenia, macrocytosis, and hyperplastic bone marrow with 3-lineage dysplasia with ~14% of myeloid blasts...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29665657/recent-advances-in-the-diagnosis-and-management-of-primary-myelofibrosis
#15
Katsuto Takenaka, Kazuya Shimoda, Koichi Akashi
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) in which dysregulation of the Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathways is the major pathogenic mechanism. Most patients with PMF carry a driver mutation in the JAK2, MPL (myeloproliferative leukemia), or CALR (calreticulin) genes. Mutations in epigenetic regulators and RNA splicing genes may also occur, and play critical roles in PMF disease progression. Based on revised World Health Organization diagnostic criteria for MPNs, both screening for driver mutations and bone marrow biopsy are required for a specific diagnosis...
April 20, 2018: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/29660158/cutaneous-presentation-preceding-acute-myeloid-leukemic-with-cd4-cd56-expression-misdiagnosed-as-a-blastic-plasmocytoid-dendritic-cell-neoplasm-a-case-report
#16
Vanessa Szablewski, Valérie Costes, Caroline Bret, Olivier Dereure, Hicheri Yosr, Melissa Alame, Valère Cacheux
Acute myeloid leukemia (AML) may initially present as cutaneous lesions corresponding to blasts involving the skin as the first clinical manifestation prior to blood and bone marrow (BM) infiltration. Such presentation is known as myeloid leukemia cutis (LC). Blastic plasmocytoid dendritic cell neoplasm (BPDCN) is an aggressive tumour derived from the precursors of plasmocytoid dendritic cells with cutaneous and bone marrow (BM) involvement and leukemic dissemination. Myeloid LC and BPDCN may be difficult to distinguish as they share similar clinical and histopathological features, in particular AML with monocytic differentiation...
April 16, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29645296/effects-of-jak1-2-inhibition-on-bone-marrow-stromal-cells-of-myeloproliferative-neoplasm-mpn-patients-and-healthy-individuals
#17
Dimitra Zacharaki, Roshanak Ghazanfari, Hongzhe Li, Hooi Ching Lim, Stefan Scheding
OBJECTIVE: Philadelphia-negative myeloproliferative neoplasms (MPNs) commonly share hyperactive JAK-STAT signaling affecting hematopoietic stem cells (HSC) and their progeny. The JAK1/2 inhibitor Ruxolitinib has remarkable clinical efficacy, including spleen reduction, improvement of constitutional symptoms, and bone marrow (BM) fibrosis reversal. Whether this is due to inhibition of JAK2-mutated HSC only, or whether Ruxolitinib also affects BM stroma is not known. METHODS: This study investigated potential effects of Ruxolitinib on BM mesenchymal stromal cells (MSC), which are not only major regulators of hematopoiesis but also contribute to fibrosis, from 10 healthy donors and 7 JAK2V617F -positive MPN patients...
April 12, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29620466/liposarcoma-in-a-backyard-silkie-and-retrospective-summary-of-neoplasms-diagnosed-in-backyard-chickens-submitted-to-the-california-animal-health-and-food-safety-laboratory-system-2008-2017
#18
Julia Blakey, Manuela Crispo, Arthur Bickford, Simone Stoute
Liposarcomas are a malignant neoplasm of adipocytes, and are rarely diagnosed in avian species. This case report describes the evidence supporting a diagnosis of metastatic liposarcoma in a backyard silkie chicken. On September 28, 2017, a dead 3-yr-old backyard silkie chicken, with a history of unknown skin lesions involving the entire body and severe weight loss, was submitted to California Animal Health and Food Safety Laboratory System-Turlock branch for necropsy. At necropsy, raised necrotic lesions involving the majority of the skin and multiple nodules in the liver, spleen, and bone marrow were noticed...
March 2018: Avian Diseases
https://www.readbyqxmd.com/read/29614500/precursor-t-lymphoblastic-lymphoma-associated-with-t-8-9-p11-2-q33-a-case-report-and-review-of-the-literature
#19
Hui Lv, Shaoyan Hu, Jun Lu, Qin Zhai, Zong Zhai, Zhizhuo Du, Yina Sun, Jie Li, Hailong He, Yi Wang
The 8p11 myeloproliferative syndrome (EMS) is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) tyrosine kinase gene on chromosome 8p11-12. A new case of a 9-year-old boy with leukocytosis, eosinophilia, and general lymphadenopathy is reported in this study. Bone marrow examination showed eosinophilic hyperplasia, with blast cells amounting to 6-7%. Karyotyping revealed cytogenetic abnormalities, including t(8;9)(p11.2;q3?3). Fluorescence in situ hybridization for the FGFR1 gene rearrangement yielded positive results...
April 4, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29611379/gata1-expression-in-bcr-abl1-negative-myeloproliferative-neoplasms
#20
Naery Yang, Sholhui Park, Min Sun Cho, Miae Lee, Ki Sook Hong, Yeung Chul Mun, Chu Myong Seong, Hee Jin Huh, Jungwon Huh
BACKGROUND: This study aimed to determine GATA1 expression levels to better characterize subgroups in BCR/ABL1-negative myeloproliferative neoplasms (MPNs). METHODS: This study enrolled 49 patients diagnosed as having BCR/ABL1-negative MPN on the basis of the 2016 World Health Organization classification : nine polycythemia vera (PV), 17 essential thrombocythemia (ET), 12 prefibrotic primary myelofibrosis (prePMF), and 11 overt primary myelofibrosis (PMF). Relevant clinical and laboratory data were retrieved from the medical records...
July 2018: Annals of Laboratory Medicine
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