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)
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.
Editorial Material
Hematology
Heike L. Pahl
Summary: The identification of sentinel mutations in MPN patients, which significantly increase the risk of leukemic transformation, even when not present in leukemic cells, is a crucial advancement in understanding and managing the disease. These mutations act as early indicators of potential disease progression, similar to canaries in a coal mine.
Review
Oncology
Yingxin Sun, Yifeng Cai, Jia Chen, Jiannong Cen, Mingqing Zhu, Jinlan Pan, Depei Wu, Aining Sun, Suning Chen
Summary: For patients with MPN with PCM1-JAK2 fusion, the combination of ruxolitinib and Peg-IFN may be an effective treatment option, especially for those with poor efficacy of ruxolitinib monotherapy.
FRONTIERS IN ONCOLOGY
(2021)
Review
Oncology
Dominik Nann, Falko Fend
Summary: The diagnosis of myeloproliferative neoplasms relies on a combination of clinical, morphological, immunophenotypic and genetic features. Modern diagnosis also involves targeted molecular analysis and a structured molecular analysis workflow for precise classification. The review focuses on morphological, molecular features and differential diagnoses of Ph-negative MPN, emphasizing the enduring role of histopathological assessment and the importance of molecular studies in confirming or refining a diagnosis.
Review
Biochemistry & Molecular Biology
Ruth Stuckey, Maria Teresa Gomez-Casares
Summary: Genetic studies in the past decade have led to a better understanding of the molecular basis of polycythaemia vera (PV), including the discovery of driver mutations like JAK2V617F and the identification of prognostically relevant somatic mutations. This knowledge has not only improved risk stratification of patients with PV but also facilitated the development of targeted therapies aimed at the constitutive activation of JAK2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Soji Morishita, Norio Komatsu
Summary: BCR::ABL1-negative myeloproliferative neoplasms (MPNs) are hematopoietic malignancies caused by acquired somatic mutations in hematopoietic stem/progenitor cells, leading to abnormal blood cell proliferation and bone marrow fibrosis. Common mutations in BCR::ABL1-negative MPNs include JAK2, MPL, and CALR, which are crucial for diagnosing these diseases. Moreover, comprehensive genetic and expression analyses have identified additional gene mutations, such as ASXL1, EZH2, IDH1/2, SRSF2, and U2AF1, associated with the prognosis of BCR::ABL1-negative MPNs. Single-cell analyses have provided insights into the order of mutation acquisition and the pathogenesis of these MPNs. Additionally, specific CREB3L1 overexpression in megakaryocytes and platelets may hold promise for diagnostic applications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Obstetrics & Gynecology
Philippe R. Koninckx, Anastasia Ussia, Leila Adamyan, Muna Tahlak, Jorg Keckstein, Arnaud Wattiez, Dan C. Martin
Summary: Endometriosis was previously considered a single disease, but is now understood to encompass various pathologies. Most datasets do not take into account the severity of the condition, leading to challenges in recognizing subtle lesions.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2021)
Review
Cell Biology
Norman Abbou, Pauline Piazzola, Jean Gabert, Vincent Ernest, Robin Arcani, Anne-Laure Couderc, Antoine Tichadou, Pauline Roche, Laure Farnault, Julien Colle, L'houcine Ouafik, Pierre Morange, Regis Costello, Geoffroy Venton
Summary: BCR-ABL1-negative myeloproliferative neoplasms (MPNs) include three major subgroups - polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). They are characterized by abnormal hematopoietic proliferation and an increased risk of leukemic transformation. In addition to the driver mutations JAK2, CALR, and MPL, more than twenty additional mutations have been identified through next-generation sequencing (NGS), which may be involved in pathways related to epigenetic modifications, RNA splicing, or DNA repair. This review highlights the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of PV, ET, and PMF patients.
Article
Oncology
Marta Garrote, Monica Lopez-Guerra, Eduardo Arellano-Rodrigo, Maria Rozman, Sara Carbonell, Francesca Guijarro, Marta Santaliestra, Ana Triguero, Dolors Colomer, Francisco Cervantes, Alberto Alvarez-Larran
Summary: This study aims to evaluate the accuracy and predictive ability of a genomic classification system in different types of myelofibrosis patients. The study found that primary and secondary myelofibrosis have distinct genomic characteristics, and genomic profiling can provide accurate information about prognosis and disease progression.
Article
Gastroenterology & Hepatology
Quirine E. W. van der Zander, Ramon M. Schreuder, Roger Fonolla, Thom Scheeve, Fons van der Sommen, Bjorn Winkens, Patrick Aepli, Bu'Hussain Hayee, Andreas B. Pischel, Milan Stefanovic, Sharmila Subramaniam, Pradeep Bhandari, Peter H. N. de With, Ad A. M. Masclee, Erik J. Schoon
Summary: A computer-aided diagnosis system (CADx) utilizing artificial neural networks achieved significantly higher diagnostic accuracy for optical diagnosis of colorectal polyps compared with expert and novice endoscopists. The system had a diagnostic accuracy of 88.3% using HDWL images and 86.7% using BLI images, which was improved to 95.0% when combining both modalities. However, the use of the BLI Adenoma Serrated International Classification (BASIC) did not increase the diagnostic accuracy of endoscopists compared to intuitive optical diagnosis.
Review
Biochemistry & Molecular Biology
Francisca Ferrer-Marin, Ernesto Jose Cuenca-Zamora, Pedro Jesus Guijarro-Carrillo, Raul Teruel-Montoya
Summary: In patients with chronic Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), leukocytes play a significant role in thrombosis. Neutrophils and monocytes in MPN patients show a pro-coagulant activated phenotype and release extracellular neutrophil traps (NETs) that contribute to platelet activation and coagulation mechanisms. Therapeutic strategies targeting NETs may reduce thrombotic complications in these patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Chemistry, Medicinal
Rhiannon Morris, Liesl Butler, Andrew Perkins, Nadia J. Kershaw, Jeffrey J. Babon
Summary: LNK is an adaptor protein that regulates cytokine signaling and constrains the activation of the JAK-STAT pathway. Mutations in LNK can lead to increased signaling and contribute to various hematological and inflammatory diseases.
Article
Pharmacology & Pharmacy
E. Gulturk, D. Yilmaz, G. birce Sonmezoz, M. Diril
Summary: The study aims to investigate the temporal relationship between the first occurrence of thromboembolic events (TEE) and the timing of myeloproliferative neoplasm (MPN) diagnosis and determine risk factors for TEE-related mortality in MPN. The results showed that older age and danazol use were independently associated with TEE-related mortality.
EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
(2023)