Editorial Material
Hematology
Ana Rio-Machin, Jude Fitzgibbon
Summary: In this study, Li et al and Duployez et al investigate the clinical and genetic landscape of DDX41 germline variants in patients with acute myeloid leukemia (AML). They find that AML with DDX41 germline variants represents a distinct subtype characterized by late-onset disease, normal karyotype, male sex skewing, and favorable outcome.
Article
Multidisciplinary Sciences
Yosuke Yamada, Xueying Zhang, Mary E. T. Henderson, Hiroyuki Sagayama, Herman Pontzer, Daiki Watanabe, Tsukasa Yoshida, Misaka Kimura, Philip N. Ainslie, Lene F. Andersen, Liam J. Anderson, Lenore Arab, Issad Baddou, Kweku Bedu-Addo, Ellen E. Blaak, Stephane Blanc, Alberto G. Bonomi, Carlijn V. C. Bouten, Pascal Bovet, Maciej S. Buchowski, Nancy F. Butte, Stefan G. Camps, Graeme L. Close, Jamie A. Cooper, Richard Cooper, Sai Krupa Das, Lara R. Dugas, Simon Eaton, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W. Fudge, Annelies H. Goris, Michael Gurven, Lewis G. Halsey, Catherine Hambly, Asmaa El Hamdouchi, Marije B. Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M. Joosen, Peter Katzmarzyk, Kitty P. Kempen, William E. Kraus, Wantanee Kriengsinyos, Robert F. Kushner, Estelle V. Lambert, William R. Leonard, Nader Lessan, Corby K. Martin, Anine C. Medin, Erwin P. Meijer, James C. Morehen, James P. Morton, Marian L. Neuhouser, Theresa A. Nicklas, Robert M. Ojiambo, Kirsi H. Pietilainen, Yannis P. Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L. Prentice, Roberto A. Rabinovich, Susan B. Racette, David A. Raichlen, Eric Ravussin, Leanne M. Redman, John J. Reilly, Rebecca M. Reynolds, Susan B. Roberts, Albertine J. Schuit, Luis B. Sardinha, Analiza M. Silva, Anders M. Sjodin, Eric Stice, Samuel S. Urlacher, Giulio Valenti, Ludo M. Van Etten, Edgar A. Van Mil, Jonathan C. K. Wells, George Wilson, Brian M. Wood, Jack A. Yanovski, Alexia J. Murphy-Alford, Cornelia U. Loechl, Amy H. Luke, Jennifer Rood, Klaas R. Westerterp, William W. Wong, Motohiko Miyachi, Dale A. Schoeller, John R. Speakman
Summary: This study investigated the determinants of human water turnover in different age groups and countries. The results show that age, body size and composition, physical activity, socioeconomic status, and environmental characteristics are closely related to water turnover. People living in countries with a low human development index have higher water turnover. Predictive equations for human water turnover in relation to anthropometric, economic, and environmental factors are provided based on the extensive dataset.
Review
Oncology
Niloofar Allahverdi, Mohamed Yassin, Mohamed Ibrahim
Summary: Smoking and obesity are associated with the development of myeloproliferative neoplasms (MPNs), while the relationship between exposure to hazardous substances and MPNs has not been strongly confirmed. Gender differences have a significant impact on the incidence of MPNs and further research is needed.
Article
Cell Biology
Maike Buettner-Herold, Carsten Sticht, Thorsten Wiech, Stefan Porubsky
Summary: Patients with MPNs or MDS/MPNs often exhibit significant glomerular scarring in renal biopsies, indicating the importance of early recognition and control of risk factors for kidney failure.
Article
Multidisciplinary Sciences
Ron Baik, Stacia K. Wyman, Shaheen Kabir, Jacob E. Corn
Summary: This study demonstrates the use of CRISPR-Cas9 engineering to create and reverse the JAK2 V617F mutation in human cell lines and hematopoietic stem cells. The mutation was found to provide a competitive growth advantage and promote terminal differentiation of erythroid progenitors, highlighting the potential role of endogenously acquired JAK2 V617F mutations in myeloproliferative neoplasms.
Article
Oncology
Evan M. Braunstein, Hang Chen, Felicia Juarez, Fanghan Yang, Lindsay Tao, Igor Makhlin, Donna M. Williams, Shruti Chaturvedi, Aparna Pallavajjala, Theodoros Karantanos, Renan Martin, Elizabeth Wohler, Nara Sobreira, Christopher D. Gocke, Alison R. Moliterno
Summary: Familial clustering of myeloproliferative neoplasms (MPN) is well known, with increased risk among first-degree relatives, and rare germline coding variants in the ERBB2 gene are associated with an increased risk for development of MPN. The ERBB2 gene is likely to contribute to cancer risk in combination with additional risk alleles.
Article
Oncology
Xiao Huang, Tingting Ma, Yongmei Zhu, Bo Jiao, Shanhe Yu, Kankan Wang, Jian-Qing Mi, Ruibao Ren
Summary: The expression of IRF4 and IRF8 is associated with the MPN phenotype, serving as potential biomarkers for the response to hydroxyurea in ET patients.
FRONTIERS OF MEDICINE
(2022)
Article
Multidisciplinary Sciences
Alanna Barrios-Ruiz, Daniel Davila-Gonzalez, Eric Fountain, Lee Cheng, Srdan Verstovsek, Cristhiam M. Rojas-Hernandez
Summary: The study aimed to verify the concordance of ICD code-based diagnosis with true clinical diagnosis of polycythemia or erythrocytosis and found that the accuracy of ICD code-based diagnoses had limitations, leading to misidentification in a significant fraction of cases. Research based solely on ICD codes could potentially impact patient care and public health, emphasizing the need to weigh limitations when conveying research findings.
SCIENTIFIC REPORTS
(2022)
Review
Hematology
Loula Papageorgiou, Ismail Elalamy, Patrick Vandreden, Grigoris T. Gerotziafas
Summary: Thrombotic and hemorrhagic complications are significant causes of morbidity and mortality in patients with myeloproliferative neoplasms. These complications are influenced by factors such as age, cardiovascular comorbidities, high blood counts, platelet alterations, genetic mutations, and other parameters related to hypercoagulability. Bleeding complications are associated with platelet exhaustion and von Willebrand factor deficiency. Preventing hemostatic complications involves antiplatelet and/or anticoagulant treatment and myelosuppressive agents.
CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS
(2022)
Article
Oncology
Yuhui Zhang, Yingdi Han, Guangshuai Teng, Chenxiao Du, Shan Gao, Weiping Yuan, Lei Zhang, Jie Bai
Summary: This study retrospectively analyzed the clinical characteristics and survival of 1060 Chinese patients with myeloproliferative neoplasms (MPNs) to explore the risk factors for secondary cancer in MPN patients. The results showed that the survival of MPN patients with secondary cancer was significantly worse, and age >= 65 years and MF-1 were identified as risk factors for developing secondary cancer.
Article
Biochemistry & Molecular Biology
Farah Perveen Mughal, Ann Christina Bergmann, Ha Uyen Buu Huynh, Sarah Hyllekvist Jorgensen, Inaam Mansha, Meliha Kesmez, Patrick Mark Schurch, Alexandre Pierre Andre Theocharides, Paul Robert Hansen, Tina Friis, Morten Orebo Holmstrom, Evaldas Ciplys, Rimantas Slibinskas, Peter Hojrup, Gunnar Houen, Nicole Hartwig Trier
Summary: This study generated and characterized eight peptide antibodies targeting the C-terminal of CRTfs, which are important tools for understanding the molecular mechanisms of MPNs and developing new diagnostic assays and therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Hematology
Graciela Rabadan Moraes, Florence Pasquier, Christophe Marzac, Eric Deconinck, Carlotta Caterina Damanti, Gwendoline Leroy, Mira El-Khoury, Wassim El Nemer, Jean-Jacques Kiladjian, Hana Raslova, Albert Najman, William Vainchenker, Caroline Marty, Christine Bellanne-Chantelot, Isabelle Plo
Summary: This study identified an EPOR variant in a large family with JAK2-positive MPN, indicating the importance of inherited-risk alleles affecting the JAK2/STAT pathway in MPN. The findings suggest potential implications for risk assessment and treatment of MPN.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Hematology
Alberto Ferrari, Joseph Scandura, Arianna Masciulli, Spencer Krichevsky, Antonello Gavazzi, Tiziano Barbui
Summary: The prevalence and risk factors of pulmonary hypertension (PH) in myeloproliferative neoplasms (MPNs) remain unclear. A systematic review and meta-analysis identified myelofibrosis (MF) and longer MPN duration as significant risk factors for the development of PH, with studies predominantly using transthoracic echocardiography (TTE) showing higher prevalence estimates compared to those using right heart catheterization (RHC).
EUROPEAN JOURNAL OF HAEMATOLOGY
(2021)
Review
Oncology
Maria Luz Morales, Francisca Ferrer-Marin
Summary: This review discusses factors other than genetic alterations that may play a role in the origin, evolution, and progression of myeloproliferative neoplasms (MPNs). It highlights the importance of exploring non-genetic mechanisms and provides a summary of studies investigating these factors. These studies focus on MPN cell-intrinsic or -extrinsic factors and their interaction through various approaches.
Article
Urology & Nephrology
Thibaut d'Izarny-Gargas, Pierre Isnard, Idris Boudhabhay, David Buob, Anissa Moktefi, Charel Linster, Aurelie Hummel, Emmanuel Esteve, Vincent Audard, Helene Lazareth, Nadine Maroun, Alexandre Hertig, Clement Gosset, Charlotte Jouzel, Sarah Permal, Camille Domenger, Olivier Kosmider, Marion Rabant, Alexandre Karras, Jean-Paul Duong Van Huyen
Summary: There is a high prevalence of chronic kidney disease (CKD) in patients with myeloproliferative neoplasms (MPN), but MPN-related glomerulopathy (MPN-RG) may not account for all the CKD risk. This study investigated the glomerular and vascular lesions in MPN patients and found an association between MPN-RG and myelofibrosis, as well as poorer kidney survival. Additionally, MPN was independently associated with chronic kidney vascular damage, suggesting a new link between MPN and CKD.
KIDNEY INTERNATIONAL
(2023)
Article
Hematology
John Mascarenhas, Heidi E. Kosiorek, Josef T. Prchal, Alessandro Rambaldi, Dmitriy Berenzon, Abdulraheem Yacoub, Claire N. Harrison, Mary Frances McMullin, Alessandro M. Vannucchi, Joanne Ewing, Casey L. O'Connell, Jean-Jacques Kiladjian, Adam J. Mead, Elliott F. Winton, David S. Leibowitz, Valerio De Stefano, Murat O. Arcasoy, Craig M. Kessler, Rosalind Catchatourian, Damiano Rondelli, Richard T. Silver, Andrea Bacigalupo, Arnon Nagler, Marina Kremyanskaya, Max F. Levine, Juan E. Arango Ossa, Erin McGovern, Lonette Sandy, Mohamad E. Salama, Vesna Najfeld, Joseph Tripodi, Noushin Farnoud, Alexander Penson, Rona Singer Weinberg, Leah Price, Judith D. Goldberg, Tiziano Barbui, Roberto Marchioli, Gianni Tognoni, Raajit K. Rampal, Ruben A. Mesa, Amylou C. Dueck, Ronald Hoffman
Summary: Both hydroxyurea and interferon-alpha are effective treatments for patients with essential thrombocythemia and polycythemia vera. With longer treatment, interferon-alpha is more effective in normalizing blood counts and reducing driver mutation burden, while hydroxyurea produces more histopathologic responses.
Article
Medicine, General & Internal
Philip Weir, Andrew Hindley, Mark Catherwood, Mary Frances McMullin
Summary: CALR mutations are common in patients with essential thrombocythaemia or myelofibrosis. CALR type 1 mutations have a higher risk of myelofibrotic change in young male patients compared to age matched female patients. Male patients have a worse myeloproliferative neoplasm phenotype, occurring at a younger age and with higher levels of fibrosis.
IRISH JOURNAL OF MEDICAL SCIENCE
(2023)
Letter
Hematology
Harry J. Iland, Nigel Russell, Richard Dillon, Andre C. Schuh, Aditya Tedjaseputra, Andrew Wei, Asim Khwaja, Steven Knapper, Steven W. Lane, John Reynolds, Mary Frances McMullin, Annalise Martin, Peter Tan, David C. Taussig, Anny Wong, John Taper, Christina Fraga, Richard Kelly, Kiran Tawana, Priyanka Mehta, Alain Mina, Jessica K. Altman, Ingolf Molle, Sudhir Tauro, Eleni Tholoui
Meeting Abstract
Hematology
Claire Harrison, Jyoti Nangalia, Rebecca H. Boucher, Aimee Jackson, Christina Yap, Jennifer O'Sullivan, Sonia Fox, Isaak Ailts, Amylou C. Dueck, Holly L. Geyer, Ruben Mesa, William Dunn, Eugene Nadezhdin, Natalia Curto-Garcia, Anna Green, Bridget Wilkins, Jason Coppell, John Laurie, Mamta Garg, Joanne Ewing, Steve Knapper, Josephine Crowe, Ioannis Koutsavlis, Anna L. Godfrey, Siamak Arami, Mark W. Drummond, Jennifer Byrne, Fiona J. Clark, Carolyn Mead-Harvey, Joanna E. Baxter, Mary Frances McMullin, Adam J. Mead
Article
Hematology
Francis Mussai, Carmela De Santo, Paul Cheng, Ian F. Thomas, Cono Ariti, Laura Upton, Ugo Scarpa, Victoria Stavrou, Mia Sydenham, Alan K. Burnett, Steven K. Knapper, Priyanka Mehta, Mary F. McMullin, Mhairi Copland, Nigel H. Russell, Mike Dennis
Summary: The survival of older AML patients has been historically suboptimal regardless of the treatment regimen used. However, progress has been made in subgroups with favorable molecular or cytogenetic findings. This study investigated the efficacy of LDAC combined with recombinant arginase BCT-100 in older AML patients, and the overall response rate was slightly higher in the LDAC+BCT-100 group compared to the LDAC group, with no significant difference in overall or median survival observed between the two treatment arms.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Oncology
Pau Montesinos, Vamsi Kota, Joseph Brandwein, Pierre Bousset, Rebecca J. Benner, Erik Vandendries, Ying Chen, Mary Frances McMullin
Summary: This study aimed to evaluate the effects of fractionated dosing of gemtuzumab ozogamicin (GO) on the QT interval, pharmacokinetics (PK), and immunogenicity in patients with relapsed/refractory acute myeloid leukemia (AML). The results showed that fractionated dosing of GO is not associated with a clinically significant risk of QT interval prolongation in AML patients, and the presence of antidrug antibodies (ADAs) is not related to potential safety issues.
CANCER CHEMOTHERAPY AND PHARMACOLOGY
(2023)
Article
Oncology
Claire N. Harrison, Jyoti Nangalia, Rebecca Boucher, Aimee Jackson, Christina Yap, Jennifer O'Sullivan, Sonia Fox, Isaak Ailts, Amylou C. Dueck, Holly L. Geyer, Ruben A. Mesa, William G. Dunn, Eugene Nadezhdin, Natalia Curto-Garcia, Anna Green, Bridget Wilkins, Jason Coppell, John Laurie, Mamta Garg, Joanne Ewing, Steven Knapper, Josephine Crowe, Frederick Chen, Ioannis Koutsavlis, Anna Godfrey, Siamak Arami, Mark Drummond, Jennifer Byrne, Fiona Clark, Carolyn Mead-Harvey, Elizabeth Joanna Baxter, Mary Frances McMullin, Adam J. Mead
Summary: The MAJIC-PV study shows that ruxolitinib treatment benefits PV patients resistant or intolerant to hydroxycarbamide (HC-INT/RES) with superior complete response rate, event-free survival, and molecular response; importantly, it also demonstrates for the first time, to our knowledge, that molecular response is linked to event-free survival, progression-free survival, and overall survival.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Article
Oncology
Ruben A. Mesa, Stacie Hudgens, Lysbeth Floden, Claire N. Harrison, Jeanne Palmer, Vikas Gupta, Donal P. McLornan, Mary F. McMullin, Jean-Jaques Kiladjian, Lynda Foltz, Uwe Platzbecker, M. Laura Fox, Adam J. Mead, David M. Ross, Stephen T. Oh, Andrew Perkins, Michael F. Leahy, Samineh Deheshi, Rafe Donahue, Barbara J. Klencke, Srdan Verstovsek
Summary: This study evaluated the longitudinal change in total symptom score (TSS) and individual symptom scores in MF patients receiving therapy, and found that momelotinib provided clinically relevant symptom benefits compared to control group.
Review
Oncology
Philip Weir, David Donaldson, Mary Frances McMullin, Lisa Crawford
Summary: Multiple myeloma is a common blood cancer that affects plasma cells in bone marrow. Despite improvements in treatment options, drug resistance remains a challenge. This review discusses the metabolic changes in multiple myeloma and the development of resistance to proteasome inhibitors, and explores potential therapeutic interventions.
Article
Oncology
Susanne Maxwell, Clara Pearce, Mary Kynn, Lesley Ann Anderson, David Weller, Peter Murchie
Summary: This study aimed to determine whether there were differences in patient presenting factors, GP consultation factors, or diagnostic pathways between urban and rural patients in Scotland. The findings showed that rural patients had more consultations and investigations before referral compared to urban patients. The only exception was lung cancer patients, where rural patients had a significantly longer diagnostic interval. Further research is needed to determine if this delay contributes to poorer outcomes for Scottish rural lung cancer patients.
CANCER EPIDEMIOLOGY
(2023)
Article
Medicine, General & Internal
Frances D. Buckley, Claire Arnold, Dawn Brass, Mark Catherwood, Mary Frances McMullin
Summary: This study analyzed 50 newly diagnosed JAK2 mutant PV patients over 2 years to determine the effectiveness of achieving and maintaining target Hct according to recommended practice. The findings showed that patients spent the majority of time in the target Hct range, supporting current management guidelines.
IRISH JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Oncology
Jad Othman, Nicola Potter, Katya Mokretar, David Taussig, Anjum Khan, Pramila Krishnamurthy, Anne-Louise Latif, Paul Cahalin, James Aries, Mariam Amer, Edward Belsham, Eibhlin Conneally, Charles Craddock, Dominic Culligan, Mike Dennis, Caroline Duncan, Sylvie D. Freeman, Caroline Furness, Amanda Gilkes, Paraskevi Gkreka, Katherine Hodgson, Wendy Ingram, Manish Jain, Andrew King, Steven Knapper, Panagiotis Kottaridis, Mary Frances McMullin, Unmesh Mohite, Loretta Ngu, Jenny O'Nions, Katharine Patrick, Tom Rider, Wing Roberts, Marianne Tang Severinsen, Neill Storrar, Tom Taylor, Nigel H. Russell, Richard Dillon
Summary: Patients with FLT3-mutated AML are at high risk of relapse and poor outcomes. Monitoring measurable residual disease (MRD) can help identify patients destined to relapse, providing an opportunity for pre-emptive intervention. In this study, 56 patients with molecular failure were treated with FLT3 inhibitors (FLT3i), resulting in a molecular response rate of 60% and an overall survival rate of 80% at 2 years. High-sensitivity next-generation sequencing identified patients more likely to benefit from FLT3i monotherapy. Further prospective studies are warranted to evaluate this promising treatment strategy.
Review
Oncology
Graeme Greenfield, Mary Frances McMullin
Summary: This review summarizes the mechanisms of epigenetic changes and nucleosomes in MPNs and discusses the alterations in methylation age and histone modification. The drivers and regulators of epigenetic changes in MPNs are outlined, and available therapeutic areas for altering the epigenome are discussed.
FRONTIERS IN ONCOLOGY
(2023)
Article
Computer Science, Artificial Intelligence
Clarisse F. de Vries, Samantha J. Colosimo, Roger T. Staff, Jaroslaw A. Dymiter, Joseph Yearsley, Deirdre Dinneen, Moragh Boyle, David J. Harrison, Lesley A. Anderson, Gerald Lip
Summary: Artificial intelligence (AI) tools may be helpful in breast screening mammography programs, but their generalizability to new settings should be validated. This study assessed the performance of a commercially available breast screening AI algorithm in a specific clinical site using a 3-year dataset. The algorithm's recall rates were high initially but reduced after threshold calibration and were influenced by software upgrades. Validating AI performance and thresholds in new clinical settings is important, and quality assurance systems should ensure consistency.
RADIOLOGY-ARTIFICIAL INTELLIGENCE
(2023)
Meeting Abstract
Hematology
Ruben Mesa, Stacy Hudgens, Libby Floden, Jeanne Palmer, Vikas Gupta, Donal McLornan, Mary Frances McMullin, Jean-Jacques Kiladjian, Lynda Foltz, Uwe Platzbecker, Laura M. Fox, Adam Mead, David Ross, Stephen Oh, Andrew Perkins, Michael F. Leahy, Samineh Deheshi, Rafe Donahue, Barbara Klencke, Srdan Verstovsek
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
