journal
https://read.qxmd.com/read/32966608/loss-of-function-mutations-in-csf3r-cause-moderate-neutropenia-with-fully-mature-neutrophils-two-novel-pedigrees
#1
LETTER
Evelien G G Sprenkeler, Anton T J Tool, Iris C Kreft, Floris P J van Alphen, Suranjith L Seneviratne, Jesmeen Maimaris, Asad Luqmani, Karin van Leeuwen, Robin van Bruggen, Siobhan O Burns, Taco W Kuijpers
No abstract text is available yet for this article.
September 23, 2020: British Journal of Haematology
https://read.qxmd.com/read/32966607/diagnostic-performance-of-18-f-fdg-pet-ct-compared-to-standard-skeletal-survey-for-detecting-bone-destruction-in-smouldering-multiple-myeloma-time-to-move-forward
#2
Elizabeth Hill, Esther Mena, Candis Morrison, Alexander Dew, Peter Choyke, Liza Lindenberg, Dickran Kazandjian
Skeletal survey (SS) continues to be used in the community to detect bone disease in patients with multiple myeloma (MM). While the false-negative rate is high, the specificity of SS is less well characterised. Here, we compare the diagnostic accuracy of SS compared to 18 F-FDG-PET/CT (positron emission tomography/computed tomography) in 79 patients referred to our tertiary centre with a diagnosis of smouldering MM. SS had a specificity of 83·1% (95% confidence interval: 72·0-90·5%). This study reinforces the importance of using more specific imaging techniques to avoid inaccurate diagnosis that could lead to the risks associated with unnecessary therapy in patients with smouldering MM...
September 23, 2020: British Journal of Haematology
https://read.qxmd.com/read/32966606/immunophenotypic-characteristics-of-juvenile-myelomonocytic-leukaemia-and-their-relation-with-the-molecular-subgroups-of-the-disease
#3
Anita Frisanco Oliveira, Aline Tansini, Thais Regina Toledo, Rafael Balceiro, Daniel Onofre Vidal, Maria Lucia de Martino Lee, Irene Lorand-Metze, Luiz Fernando Lopes
The diagnosis of juvenile myelomonocytic leukaemia (JMML) is based on clinical, laboratory and molecular features but immunophenotyping [multiparametric flow cytometry (MFC)] has not been used routinely. In the present study, we describe the flow cytometric features at diagnosis with special attention to the distribution of monocytic subsets and the relation between MFC and molecular subgroups. MFC was performed with an eight-colour platform based on Euroflow. We studied 33 JMML cases. CD34+ /CD117+ /CD13+ cells >2% was found in 25 cases, and 51·5% presented an aberrant expression of CD7...
September 23, 2020: British Journal of Haematology
https://read.qxmd.com/read/32966591/unfolding-of-sickle-cell-trait-by-coronavirus-disease-2019-covid-19-infection
#4
Dina Sheha, Mohamed El-Shayeb, Yara Eid, Mariam Amin, Alia Saeed, Dina Abdou, Tarek Aly, Sherief Samy, Rahma Elziaty, Sherihan Aboelyazed, Ahmed Osman, Aliaa Sheha
No abstract text is available yet for this article.
September 23, 2020: British Journal of Haematology
https://read.qxmd.com/read/32966588/novel-ocular-findings-and-progressive-intracranial-calcification-in-a-case-of-revesz-syndrome
#5
Jack McCaffrey, Kathleen Gorman, Michael McDermott, Stephen Farrell, Ghadir Kassab, Melanie Cotter
No abstract text is available yet for this article.
September 23, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945554/exhaustion-of-tumour-infiltrating-t-cell-receptor-repertoire-diversity-is-an-age-dependent-indicator-of-immunological-fitness-independently-predictive-of-clinical-outcome-in-burkitt-lymphoma
#6
Johannes Rieken, Veronica Bernard, Hanno M Witte, Wolfgang Peter, Hartmut Merz, Vito Olschewski, Lars Hertel, Hendrik Lehnert, Harald Biersack, Nikolas von Bubnoff, Alfred C Feller, Niklas Gebauer
Burkitt lymphoma (BL) is an aggressive B-cell-malignancy derived from germinal-centre B-cells. Curative therapy traditionally requires intensive immunochemotherapy. Recently, immuno-oncological approaches, modulating the T-cell tumour response, were approved for the treatment of a variety of malignancies. The architecture of the tumour-infiltrating T-cell receptor (TCR) repertoire in BL remains insufficiently characterized. We therefore performed a large-scale, next-generation sequencing study of the complimentary-determining region (CDR)-3 region of the TCRβ chain repertoire in a large cohort of all epidemiological subtypes of BL (n = 82) and diffuse large B-cell lymphoma (DLBCL; n = 34)...
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945549/phase-ii-trial-of-single-agent-panobinostat-consolidation-improves-responses-after-sub-optimal-transplant-outcomes-in-multiple-myeloma
#7
Sridurga Mithraprabhu, Anna Kalff, Kate H Gartlan, Ioanna Savvidou, Tiffany Khong, Malarmathy Ramachandran, Rachel E Cooke, Kathryn Bowen, Geoffrey R Hill, John Reynolds, Andrew Spencer
Panobinostat is a pan-deacetylase inhibitor that modulates the expression of oncogenic and immune-mediating genes involved in tumour cell growth and survival. We evaluated panobinostat-induced post-transplant responses and identified correlative biomarkers in patients with multiple myeloma who had failed to achieve a complete response after autologous transplantation. Patients received panobinostat 45 mg administered three-times weekly (TIW) on alternate weeks of 28-day cycles commencing 8-12 weeks post-transplant...
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945548/circulating-cell-free-dna-improves-the-molecular-characterisation-of-ph-negative-myeloproliferative-neoplasms
#8
Nieves Garcia-Gisbert, Lierni Fernández-Ibarrondo, Concepcion Fernández-Rodríguez, Joan Gibert, Marcio Andrade-Campos, Leonor Arenillas, Laura Camacho, Anna Angona, Raquel Longarón, Antonio Salar, Xavier Calvo, Carlos Besses, Beatriz Bellosillo
Genetic studies in patients with Philadelphia-negative myeloproliferative neoplasms (MPNs) are essential to establish the correct diagnosis and to optimise their management. Recently, it has been demonstrated that it is possible to detect molecular alterations analysing cell-free DNA (cfDNA) in plasma samples, which is known as liquid biopsy. We have assessed the molecular profile of a cohort of 107 MPN patients [33 polycythaemia vera (PV), 56 essential thrombocythaemia (ET), 14 primary myelofibrosis (PMF) and 4 unclassifiable MPN] by next-generation sequencing (NGS) using cfDNA and paired granulocyte DNA...
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945547/maternal-and-neonatal-outcomes-in-80-patients-diagnosed-with-non-hodgkin-lymphoma-during-pregnancy-results-from-the-international-network-of-cancer-infertility-and-pregnancy
#9
Charlotte Maggen, Daan Dierickx, Elyce Cardonick, Mina Mhallem Gziri, Alvaro Cabrera-Garcia, Roman G Shmakov, Irit Avivi, Bianca Masturzo, Johannes J Duvekot, Petronella B Ottevanger, Andie O'Laughlin, Evgeniya Polushkina, Kristel Van Calsteren, F J Sherida H Woei-A-Jin, Frédéric Amant
This cohort study of the International Network on Cancer, Infertility and Pregnancy (INCIP) reports the maternal and neonatal outcomes of 80 pregnant patients diagnosed with non-Hodgkin lymphoma (NHL) between 1986 and 2019, focussing on 57 (71%) patients with diffuse large B-cell lymphoma (DLBCL). Of all 80 patients, 54 (68%) pregnant patients received chemotherapy; mostly (89%) CHOP-like (cyclophosphamide, doxorubicin, vincristine, and prednisone) regimens. Four early pregnancies were terminated. Among 76 ongoing pregnancies, there was one stillbirth (1·3%)...
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945533/promastigotes-of-leishmania-spp-developing-in-human-bone-marrow-in-vitro
#10
Marco P Barros Pinto, Guilhermina Marques, J Melo Cristino
No abstract text is available yet for this article.
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945532/clinical-features-of-vitamin-b12-deficiency-mimicking-thrombotic-microangiopathy
#11
Anita G Koshy, Jason A Freed
No abstract text is available yet for this article.
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945528/venetoclax-plus-hypomethylating-agent-in-blast-phase-myeloproliferative-neoplasm-preliminary-experience-with-12-patients
#12
Naseema Gangat, Erika Morsia, James M Foran, Jeanne M Palmer, Michelle A Elliott, Ayalew Tefferi
No abstract text is available yet for this article.
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945527/a-15-years-follow-up-of-deferasirox-in-beta-thalassaemia-major-patients-with-iron-overload
#13
LETTER
Zhenbin Wei, Gaohui Yang, Yumei Huang, Peng Peng, Liling Long, Yuan Long, Xiaoping Huang, Xuemei Zhou, Yongrong Lai, Rongrong Liu
No abstract text is available yet for this article.
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945526/microcytosis-in-patients-with-haemoglobin-c-trait-is-%C3%AE-thalassaemia-trait-to-blame
#14
Stéphanie Forté, Barry Eng, Madeleine Verhovsek, Denis Soulières, John S Waye
No abstract text is available yet for this article.
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32945525/covid-19-infection-in-patients-on-anti-complement-therapy-the-leeds-national-paroxysmal-nocturnal-haemoglobinuria-service-experience
#15
LETTER
Alexandra Pike, Petra Muus, Tahla Munir, Lindsay Mitchell, Louise Arnold, Kathryn Riley, Nicola Houghton, Briony Forrest, Jeanifer Gachev, Peter Hillmen, Morag Griffin
No abstract text is available yet for this article.
September 18, 2020: British Journal of Haematology
https://read.qxmd.com/read/32926422/adjuvant-tyrosine-kinase-inhibitor-therapy-improves-outcome-for-children-and-adolescents-with-acute-lymphoblastic-leukaemia-who-have-an-abl-class-fusion
#16
Anthony V Moorman, Claire Schwab, Emily Winterman, Jerry Hancock, Anna Castleton, Michelle Cummins, Brenda Gibson, Nick Goulden, Pam Kearns, Beki James, Amy A Kirkwood, Donna Lancaster, Mabrouk Madi, Andrew McMillan, Jayashree Motwani, Alice Norton, Aengus O'Marcaigh, Katharine Patrick, Neha Bhatnagar, Amrana Qureshi, Deborah Richardson, Simone Stokley, Gordon Taylor, Frederik W van Delft, John Moppett, Christine J Harrison, Sujith Samarasinghe, Ajay Vora
Patients with an ABL-class fusion have a high risk of relapse on standard chemotherapy but are sensitive to tyrosine kinase inhibitors (TKI). In UKALL2011, we screened patients with post-induction MRD ≥1% and positive patients (12%) received adjuvant TKI. As the intervention started during UKALL2011, not all eligible patients were screened prospectively. Retrospective screening of eligible patients allowed the outcome of equivalent ABL-class patients who did and did not receive a TKI in first remission to be compared...
September 14, 2020: British Journal of Haematology
https://read.qxmd.com/read/32926420/results-of-a-uk-national-cancer-research-institute-phase-ii-study-of-brentuximab-vedotin-using-a-response-adapted-design-in-the-first-line-treatment-of-patients-with-classical-hodgkin-lymphoma-unsuitable-for-chemotherapy-due-to-age-frailty-or-comorbidity-brevity
#17
Adam Gibb, Sarah J Pirrie, Kim Linton, Victoria Warbey, Kathryn Paterson, Andrew J Davies, Graham P Collins, Tobias Menne, Pamela McKay, Paul A Fields, Fiona M Miall, Eszter Nagy, Keith Wheatley, Rachel Reed, Ivona Baricevic-Jones, Sally Barrington, John Radford
Standard treatment for classical Hodgkin lymphoma (cHL) is poorly tolerated in older patients and results disappointing. We assessed safety and efficacy of brentuximab vedotin (BV), in previously untreated patients with cHL unfit for standard treatment due to age, frailty or comorbidity. The primary outcome was complete metabolic response (CMR) by positron emission tomography/computed tomography after four BV cycles (PET4). The secondary outcomes included progression-free survival (PFS), overall survival (OS), and toxicity...
September 14, 2020: British Journal of Haematology
https://read.qxmd.com/read/32880915/paediatric-burkitt-lymphoma-patient-derived-xenografts-capture-disease-characteristics-over-time-and-are-a-model-for-therapy
#18
Sorcha Forde, Jamie D Matthews, Leila Jahangiri, Liam C Lee, Nina Prokoph, Tim I M Malcolm, Olivier T Giger, Natalie Bell, Helen Blair, Aengus O'Marcaigh, Owen Smith, Lukas Kenner, Simon Bomken, Gladstone A A Burke, Suzanne D Turner
Burkitt lymphoma (BL) accounts for almost two-thirds of all B-cell non-Hodgkin lymphoma (B-NHL) in children and adolescents and is characterised by a MYC translocation and rapid cell turnover. Intensive chemotherapeutic regimens have been developed in recent decades, including the lymphomes malins B (LMB) protocol, which have resulted in a survival rate in excess of 90%. Recent clinical trials have focused on immunochemotherapy, with the addition of rituximab to chemotherapeutic backbones, showing encouraging results...
September 3, 2020: British Journal of Haematology
https://read.qxmd.com/read/32866306/disordered-serum-erythroferrone-and-hepcidin-levels-as-indicators-of-the-spontaneous-abortion-occurrence-during-early-pregnancy-in-humans
#19
Shuting Wei, Wei Liu, Yu Qi, Yifan Guo, Shuping Zhang, Li Wang, Taifeng Zhuang, Na Zhang, Sijin Liu
Spontaneous abortion is a common, detrimental outcome of pregnancy, and can be induced by a variety of factors, including pathophysiological conditions and socioeconomic circumstances. Despite numerous studies examining the aetiology of spontaneous abortion, there is limited understanding of the disordered iron transportation between mother and fetus through the placenta. Recently, erythroferrone (ERFE) was recognized as a novel negative regulator of hepcidin that can elevate nutritional iron absorption and macrophagic iron egress for enhanced erythropoiesis...
August 31, 2020: British Journal of Haematology
https://read.qxmd.com/read/32866288/zbtb44-flt3-fusion-in-a-patient-with-a-myeloproliferative-neoplasm
#20
LETTER
Xin Zhou, Chunxiao Yang, Zhijian Zou, Xingping Lang, Ping Chen, Si Chen, Kai Wang, Yongyan Chen, Yang Hao, Nan Chen, Jingwen Ding, Yan Li, Yufeng Shen, Sheng Xiao
No abstract text is available yet for this article.
August 31, 2020: British Journal of Haematology
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