Article
Hematology
Giuseppe G. Loscocco, Giada Rotunno, Francesco Mannelli, Giacomo Coltro, Francesca Gesullo, Fabiana Pancani, Leonardo Signori, Chiara Maccari, Maria Esposito, Chiara Paoli, Alessandro M. Vannucchi, Paola Guglielmelli
Summary: The study examines the prognostic contribution of high molecular risk mutations in primary myelofibrosis (PMF), and finds that ASXL1, SRSF2, U2AF1Q157, and EZH2 mutations have independent prognostic value, while mutations in CBL, NRAS, KRAS, and TP53 have limited prognostic value.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
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.
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.
Review
Oncology
Marco Pizzi, Giorgio Alberto Croci, Marco Ruggeri, Silvia Tabano, Angelo Paolo Dei Tos, Elena Sabattini, Umberto Gianelli
Summary: Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell disorders, characterized by increased proliferation of the myeloid lineages in the bone marrow. The classification and diagnostic criteria of MPNs have evolved over time to include a subset of cases that cannot be clearly classified, such as early phase MPNs, terminal fibrotic MPNs, and those associated with other disorders. Further research is needed to fully understand and classify these unclassifiable MPNs.
Review
Oncology
Elena Sabattini, Marco Pizzi, Claudio Agostinelli, Clara Bertuzzi, Carlo Alberto Sagramoso Sacchetti, Francesca Palandri, Umberto Gianelli
Summary: This review provides an updated overview on the progression of Ph-chromosome-negative MPN, focusing on histopathological changes identifiable in routine diagnostic practice on bone marrow biopsies. Different types of progression and associated clinical and molecular factors are discussed, emphasizing the importance of histology in diagnosis and classification despite evolving molecular investigations. The diseases within the Ph-chromosome-negative MPN group have distinct clinic-pathologic features and outcomes, with progression defined by specific changes in marrow fibrosis or blast percentage over time.
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
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)
Article
Hematology
Yi Zhang, Qike Zhang, Qingchi Liu, Huibing Dang, Sujun Gao, Wei Wang, Hu Zhou, Yuqing Chen, Liangming Ma, Jishi Wang, Haiping Yang, Binhua Lu, Hewen Yin, Liqing Wu, Shanshan Suo, Qingwei Zhao, Hongyan Tong, Jie Jin
Summary: In this phase 2 trial, jaktinib showed promise as a treatment option for myelofibrosis patients who have become refractory to or relapsed after ruxolitinib treatment.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Review
Medicine, General & Internal
Abdulrahman F. Al-Mashdali, Mahmood B. Aldapt, Alaa Rahhal, Yousef M. Hailan, Israa Elhakeem, Elrazi A. Ali, Waail Rozi, Mohamed A. Yassin
Summary: Philadelphia-negative myeloproliferative neoplasms (MPNs) are rarely diagnosed in pediatrics, leading to limited knowledge about their clinical presentation, mutational status, and complications. This study reviewed the literature and found that pediatric MPNs have different clinical characteristics, vascular and long-term complications, types of driver mutations, and treatment approaches compared to adults.
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.
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)
Review
Biochemistry & Molecular Biology
Dominik Kiem, Sandro Wagner, Teresa Magnes, Alexander Egle, Richard Greil, Thomas Melchardt
Summary: Philadelphia chromosome negative myeloproliferative neoplasms consist of polycythemia vera, essential thrombocytosis, and primary myelofibrosis. Mutations in JAK2, MPL, or CALR characterize these disorders, with additional mutations leading to myeloid cell lineages expansion and marrow fibrosis in PMF. Chronic inflammation plays a significant role in the disease initiation and progression, with neutrophilic granulocytes playing a major role in the pathogenesis of thromboembolic events.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Pathology
Umberto Gianelli, Juergen Thiele, Attilio Orazi, Naseema Gangat, Alessandro M. Vannucchi, Ayalew Tefferi, Hans Michael Kvasnicka
Summary: The International Consensus Classification (ICC) of myeloid neoplasms, which was based on the efforts of pathologists, oncologists, and geneticists, aimed to update the 2017 World Health Organization classification system for hematopoietic tumors. The classification of myeloproliferative neoplasms (MPNs) underwent significant modifications, especially in terms of diagnostic methods and criteria.
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.
Letter
Oncology
Antonella Zagaria, Francesco Tarantini, Paola Orsini, Luisa Anelli, Cosimo Cumbo, Nicoletta Coccaro, Giuseppina Tota, Crescenzio Francesco Minervini, Elisa Parciante, Maria Rosa Conserva, Immacolata Redavid, Alessandra Ricco, Immacolata Attolico, Giorgina Specchia, Pellegrino Musto, Francesco Albano
Summary: This study investigated the genomic and clinical features of 80 erythrocytosis patients and found that male patients with idiopathic erythrocytosis and normal EPO levels may be the best candidates for searching for the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele.
EXPERIMENTAL HEMATOLOGY & ONCOLOGY
(2022)
Article
Cell & Tissue Engineering
Lisa-Marie Pfeffermann, Verena Pfirrmann, Sabine Huenecke, Melanie Bremm, Halvard Bonig, Hans-Michael Kvasnicka, Thomas Klingebiel, Peter Bader, Eva Rettinger
Article
Oncology
Hans Michael Kvasnicka, Juergen Thiele, Carlos E. Bueso-Ramos, William Sun, Jorge Cortes, Hagop M. Kantarjian, Srdan Verstovsek
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2018)
Article
Oncology
Lukas Jennewein, Georg Bartsch, Kilian Gust, Hans-Michael Kvasnicka, Axel Haferkamp, Roman Blaheta, Michel Mittelbronn, Patrick N. Harter, Jens Mani
Review
Oncology
Tiziano Barbui, Jurgen Thiele, Heinz Gisslinger, Hans Michael Kvasnicka, Alessandro M. Vannucchi, Paola Guglielmelli, Attilio Orazi, Ayalew Tefferi
BLOOD CANCER JOURNAL
(2018)
Meeting Abstract
Oncology
Marlene Steiner, Van T. Hoang, Jasmin Yillah, Katharina Gerlach, Joern Lausen, Hans-Michael Kvasnicka, Thomas Oellerich, Hanibal Bohnenberger, Daniela Krause, Martin Zoernig
Article
Immunology
Birgitta E. Michels, Mohammed H. Mosa, Britta M. Grebbin, Diego Yepes, Tahmineh Darvishi, Johannes Hausmann, Henning Urlaub, Stefan Zeuzem, Hans M. Kvasnicka, Thomas Oellerich, Henner F. Farin
JOURNAL OF EXPERIMENTAL MEDICINE
(2019)
Meeting Abstract
Hematology
Hans Michael Kvasnicka, Juergen Thiele, Carlos E. Bueso-Ramos, Philomena Colucci, Dilan Paranagama, Srdan Verstovsek
Article
Oncology
Rahul Kumar, Raquel S. Pereira, Costanza Zanetti, Valentina R. Minciacchi, Maximilian Merten, Melanie Meister, Julian Niemann, Marina S. Dietz, Nina Ruessel, Frank Schnuetgen, Minori Tamai, Koshi Akahane, Takeshi Inukai, Thomas Oellerich, Hans Michael Kvasnicka, Heike Pfeifer, Franck E. Nicolini, Mike Heilemann, Richard A. Van Etten, Daniela S. Krause
Article
Multidisciplinary Sciences
Martin Frejno, Chen Meng, Benjamin Ruprecht, Thomas Oellerich, Sebastian Scheich, Karin Kleigrewe, Enken Drecoll, Patroklos Samaras, Alexander Hogrebe, Dominic Helm, Julia Mergner, Jana Zecha, Stephanie Heinzlmeir, Mathias Wilhelm, Julia Dorn, Hans-Michael Kvasnicka, Hubert Serve, Wilko Weichert, Bernhard Kuster
NATURE COMMUNICATIONS
(2020)
Article
Biochemistry & Molecular Biology
Patrizia Malkomes, Ilaria Lunger, Elsie Oppermann, Khalil Abou-El-Ardat, Thomas Oellerich, Stefan Guenther, Can Canbulat, Sabrina Bothur, Frank Schnuetgen, Weijia Yu, Susanne Wingert, Nadine Haetscher, Claudia Catapano, Marina S. Dietz, Mike Heilemann, Hans-Michael Kvasnicka, Katharina Holzer, Hubert Serve, Wolf Otto Bechstein, Michael A. Rieger
Summary: TGM2 plays a crucial role in colorectal cancer, with its transamidation activity being essential for promoting cell survival. By binding to the tumor suppressor gene p53, TGM2 inactivates it, affecting apoptosis induction in cancer cells.
Meeting Abstract
Medicine, Research & Experimental
Veronika Weyerer, Nadina Ortiz-Bruchle, Melanie Demes, Oliver Schildgen, Johannes Haybaeck, Gabriela Westphal, Philip Sander, Thomas Mairinger, Wolfgang Goering, Thomas Aigner, Udo Siebolts, Annika Moske, Achim Battmann, Hans Michael Kvasnicka, Karsten Neumann, Lars Tharun, Daniela Nussbeck, Marianna Sciortino, Bruno Markl, Eva Wardelmann, Arndt Hartmann, Nikola Holtkamp
LABORATORY INVESTIGATION
(2021)
Meeting Abstract
Pathology
Veronika Weyerer, Nadina Ortiz-Bruechle, Melanie Demes, Oliver Schildgen, Johannes Haybaeck, Gabriela Westphal, Philip Sander, Thomas Mairinger, Wolfgang Goering, Thomas Aigner, Udo Siebolts, Annika Moske, Achim Battmann, Hans Michael Kvasnicka, Karsten Neumann, Lars Tharun, Daniela Nussbeck, Marianna Sciortino, Bruno Markl, Eva Wardelmann, Arndt Hartmann, Nikola Holtkamp
Article
Cardiac & Cardiovascular Systems
Mirjana Gotic, Miklos Egyed, Liana Gercheva, Krzysztof Warzocha, Hans Michael Kvasnicka, Heinrich Achenbach, Jingyang Wu
Summary: This study investigated the cardiac safety, efficacy, and tolerability of first-line treatment with anagrelide or hydroxyurea in high-risk ET patients. Both treatments controlled platelet counts without adverse cardiac effects, with majority of patients showing complete or partial responses. Long-term treatment with anagrelide did not affect cardiac function and confirmed the ET diagnosis through left ventricular ejection fraction assessment and central biopsy reading.
CARDIOVASCULAR TOXICOLOGY
(2021)
Article
Hematology
Konnie Hebeda, Ludmila Boudova, Christine Beham-Schmid, Attilio Orazi, Hans-Michael Kvasnicka, Umberto Gianelli, Alexandar Tzankov
Summary: The study summarized clinical, histopathological, and molecular features of 28 cases, indicating that accumulation of high-risk mutations in the trunk clone often leads to disease progression. Regular genetic testing may predict transformation and explain clinical progression. Histiocytic outgrowths are usually associated with a more aggressive course, and different clinical behaviors and risks may be context-dependent.
ANNALS OF HEMATOLOGY
(2021)
Meeting Abstract
Hematology
Rahul Kumar, Maximilian Marten, Valentina Minciacchi, Raquel Pereira, Costanza Zanetti, Nina Hyduk, Thomas Oellerich, Hans Michael Kvasnicka, Joel Spencer, Frank Schnuetgen, Charles Lin, Cristina Lo Celso, Melanie Meister, Franck Emmanuel Nicolini, Daniela S. Krause
