Editorial Material
Hematology
John S. Welch
Summary: This study integrated mutational analysis with clinical outcomes and proposed merging TP53-mutated myelodysplastic syndrome with excess blasts (MDS-EB) and TP53-mutated acute myeloid leukemia (AML) into a unified diagnosis. The researchers found no significant difference between these two diseases in terms of clinical parameters and survival outcomes.
Article
Hematology
Miriam Elbracht, Robert Meyer, Kim Kricheldorf, Deniz Gezer, Thomas Eggermann, Beate Betz, Ingo Kurth, Lino L. Teichmann, Tim H. Bruemmendorf, Ulrich Germing, Susanne Isfort, Steffen Koschmieder
Summary: The study identified germline mutations in MPNs patients, suggesting a higher risk of leukemia; the discovery of hereditary tumor predisposition is crucial for therapeutic options and preventive care for individuals with MPNs in their families.
Article
Multidisciplinary Sciences
Haruto Nishida, Yoshihiko Kondo, Takahiro Kusaba, Kazuhiro Kawamura, Yuzo Oyama, Tsutomu Daa
Summary: In recent years, several immune checkpoint inhibitors targeting programmed death-ligand 1 (PD-L1) or PD-1 have been developed for cancer therapy. The genetic background of tumors and factors that influence PD-L1 expression in tumor tissues are not yet elucidated in cutaneous squamous cell carcinoma (cSCC).
Review
Immunology
Teklie Mengie Ayele, Zelalem Tilahun Muche, Awgichew Behaile Teklemariam, Achenef Bogale Kassie, Endeshaw Chekol Abebe
Summary: The JAK2/STAT3 signaling pathway plays a crucial role in regulating various biological processes such as cell proliferation, differentiation, apoptosis, and immune system control. Aberrantly activated JAK2/STAT3 is associated with the development and metastasis of various tumors, while the JAK3/STAT3 pathway shows promise as a potential therapeutic target in solid tumor treatment.
JOURNAL OF INFLAMMATION RESEARCH
(2022)
Review
Oncology
Simona Stivala, Sara C. Meyer
Summary: Somatic mutations in JAK2, calreticulin, and MPL genes drive myeloproliferative neoplasms (MPN), and recent technological advances have revealed a heterogeneous genomic landscape with additional mutations in epigenetic regulators and splicing factors. These mutations are of diagnostic and prognostic value, informing treatment decisions and guiding the development of new therapeutic options for MPN.
Article
Neurosciences
Yi Zhong, Bo Yin, Yingze Ye, Omar Y. A. T. Dekhel, Xiaoxing Xiong, Zhihong Jian, Lijuan Gu
Summary: The JAK2/STAT3 signaling pathway plays a crucial role in ischemic stroke by regulating inflammatory response, apoptosis, oxidative stress, and angiogenesis.
EXPERIMENTAL NEUROLOGY
(2021)
Article
Hematology
Cavan Bennett, Moyra Lawrence, Jose A. Guerrero, Simon Stritt, Amie K. Waller, Yahui Yan, Richard W. Mifsud, Jose Ballester-Beltran, Ayesha Baig, Annett Mueller, Louisa Mayer, James Warland, Christopher J. Penkett, Parsa Akbari, Thomas Moreau, Amanda L. Evans, Souradip Mookerjee, Gary J. Hoffman, Kourosh Saeb-Parsy, David J. Adams, Amber L. Couzens, Markus Bender, Wendy N. Erber, Bernhard Nieswandt, Randy J. Read, Cedric Ghevaert
Summary: Platelet production has been understood as a two-stage process, but new research reveals that the maturation of preplatelets is a critical third process that regulates platelet count. Deficiency in the cytokine receptor-like factor 3 (CRLF3) leads to a sustained decrease in platelet count, possibly due to increased microtubule stability. Targeting CRLF3 may have therapeutic potential for treating thrombocythemia.
Review
Cell Biology
Bo Chen, Ke Ning, Ming-li Sun, Xin-an Zhang
Summary: Osteoarthritis (OA) is a chronic disease characterized by the degeneration of articular cartilage. The Janus kinase 2 (JAK2)/signal transducer and activator of transcription 3 (STAT3) signaling pathway plays a vital role in the progression of OA. This review focuses on the role and mechanism of JAK2/STAT3 signaling in cartilage degradation, subchondral bone dysfunction, and synovial inflammation, as well as recent therapeutic approaches targeting this pathway for OA treatment.
CELL COMMUNICATION AND SIGNALING
(2023)
Article
Hematology
Annatina S. Schnegg-Kaufmann, Julie A. I. Thoms, Golam Sarower Bhuyan, Henry R. Hampton, Lachlin Vaughan, Kayleigh Rutherford, Purvi M. Kakadia, Hui Mei Lee, Emma M. V. Johansson, Timothy W. Failes, Greg M. Arndt, Jason Koval, Robert Lindeman, Pauline Warburton, Alba Rodriguez-Meira, Adam J. Mead, Ashwin Unnikrishnan, Sarah Davidson, Mark N. Polizzotto, Mark Hertzberg, Elli Papaemmanuil, Stefan K. Bohlander, Omid R. Faridani, Christopher J. Jolly, Fabio Zanini, John E. Pimanda
Summary: Myelodysplastic neoplasms (MDSs) and chronic myelomonocytic leukemia (CMML) are clonal disorders driven by acquired somatic mutations. Hypomethylating agents (HMAs) can modify the clinical course of these diseases. Clinical improvement may be related to improved differentiation capacity of mutated hematopoietic stem cells.
Article
Immunology
Abdulla Watad, Mark Kacar, Nicola Luigi Bragazzi, Qiao Zhou, Miriam Jassam, Jan Taylor, Eve Roman, Alexandra Smith, Richard A. Jones, Howard Amital, Catherine Cargo, Dennis McGonagle, Sinisa Savic
Summary: Research on MDS patients shows that autoinflammatory complications are common, with somatic mutations and abnormal karyotypes being associated with these complications. Autoinflammatory diseases may lead to malignant transformation and poorer prognosis.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Oncology
Marie Schneider, Clara Rolfs, Matthias Trumpp, Susann Winter, Luise Fischer, Mandy Richter, Victoria Menger, Kolja Nenoff, Nora Grieb, Klaus H. Metzeler, Anne Sophie Kubasch, Katja Sockel, Christian Thiede, Jincheng Wu, Janghee Woo, Andreas Bruederle, Lorenz C. Hofbauer, Joerg Luetzner, Andreas Roth, Michael Cross, Uwe Platzbecker
Summary: This study confirms the activation of inflammatory pathways mediated by caspase-1, IL-1β and IL-18 in low-risk MDS bone marrow and reveals heterogeneity of inflammation between genetically defined subgroups. The analysis identifies two MDS phenotypes with different levels of IL1B gene expression. Inflammasome-related genes are primarily expressed in monocytes, but the highest levels of IL18 expression are found in hematopoietic stem and progenitor cells. The colony forming activity of healthy donor HSPCs exposed to MDS monocytes is increased by the neutralizing antibody canakinumab, suggesting the potential for personalized anti-inflammatory therapies.
Article
Hematology
Ursula S. A. Stalmann, Fabio Ticconi, Inge A. M. Snoeren, Ronghui Li, Helene F. E. Gleitz, Glenn S. Cowley, Marie E. McConkey, Aaron B. Wong, Stephani Schmitz, Stijn N. R. Fuchs, Shubhankar Sood, Nils B. Leimkuehler, Sergio Martinez-Hoyer, Bella Banjanin, David Root, Tim H. Bruemmendorf, Juliette E. Pearce, Andreas Schuppert, Eric M. J. Bindels, Marieke A. Essers, Dirk Heckl, Thomas Stiehl, Ivan G. Costa, Benjamin L. Ebert, Rebekka K. Schneider
Summary: Genetic haploinsufficiency plays a crucial role in the clonal dominance of 5q-HSCs, providing a unique competitive advantage through increased HSC self-renewal and proliferation capacity, as well as increased fitness under inflammatory stress.
Article
Medicine, General & Internal
Emily A. DeBoy, Michael G. Tassia, Kristen E. Schratz, Stephanie M. Yan, Zoe L. Cosner, Emily J. McNally, Dustin L. Gable, Zhimin Xiang, David B. Lombard, Emmanuel S. Antonarakis, Christopher D. Gocke, Rajiv C. McCoy, Mary Armanios
Summary: Persons with variant POT1 protein were found to have unusually long telomeres and susceptibility to familial clonal hematopoiesis and other neoplasms. The study suggests that long telomere length is associated with extended cellular longevity and the capacity to maintain telomeres over time.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Samar Alsafadi, Stephane Dayot, Malcy Tarin, Alexandre Houy, Dorine Bellanger, Michele Cornella, Michel Wassef, Joshua J. Waterfall, Erik Lehnert, Sergio Roman-Roman, Marc-Henri Stern, Tatiana Popova
Summary: Our study provides definitive evidence that genetic alterations of SUGP1 genocopy SF3B1 mutations in lung adenocarcinoma and other cancers, inducing similar aberrant splicing effects as mutant SF3B1.
Article
Oncology
Guadalupe A. Cifuentes, Adrian Santiago, Lucia Mendez Blanco, Maria Fueyo, Esther Lopez Martinez, Raquel Soria, Irene Martin Lopez, Pepa Cucarella Beltran, Pablo Pardo-Coto, David Rodriguez-Rubi, Karla Urquilla, Noelia S. Duran, Rebeca Alvarez, Claudia G. Lago, Andrea Otero, Marta Dineiro, Raquel Capin, Juan Cadinanos, Ruben Cabanillas
Summary: This study evaluates the utility of liquid biopsy and integrative genomic profiling (IGP) in radiation oncology. It finds that 1/3 of the variants detected in liquid biopsy are not tumor-related. Integrated genomic analysis identifies 55 potentially actionable tumor variants and potential follow-up biomarkers in all cases. Furthermore, the presence of detectable circulating tumor DNA variants before radiotherapy is associated with progression-free survival.
BRITISH JOURNAL OF CANCER
(2023)
