Article
Hematology
Omri Cohen, Lucia Maria Caiano, Antonella Tufano, Walter Ageno
Summary: Splanchnic vein thrombosis (SVT) is often associated with cancer and myeloproliferative neoplasms (MPNs), presenting with nonspecific clinical symptoms and frequently being incidentally diagnosed during cancer staging or follow-up imaging studies. The occurrence of SVT predicts worse prognosis in patients with liver or pancreatic cancer, suggesting the presence of an underlying malignancy or MPN. Patients with cancer-related SVT have a high risk of VTE extension and recurrence, with long-term anticoagulant treatment recommended in the absence of high bleeding risk.
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2021)
Review
Hematology
Douglas Tremblay, Adam Winters, Joan D. Beckman, Leonard Naymagon, Rahul Patel, John Mascarenhas, Thomas D. Schiano
Summary: This review summarizes the epidemiology, pathogenic features, and clinical management of myeloproliferative neoplasm (MPN) with splanchnic vein thrombosis (SVT), highlighting the central role of endothelial cells in this condition.
THROMBOSIS RESEARCH
(2022)
Article
Hematology
Emanuele Valeriani, Marcello Di Nisio, Nicoletta Riva, Lucia Maria Caiano, Ettore Porreca, Soo-Mee Bang, Jan Beyer-Westendorf, Maria Teresa Sartori, Giovanni Barillari, Rita Santoro, Pieter W. Kamphuisen, Adriano Alatri, Alessandra Malato, Gianpaolo Vidili, Doyeun Oh, Sam Schulman, Walter Ageno
Summary: This study compared the characteristics and outcomes of cancer patients with SVT and usual site VTE, finding that despite some differences in baseline characteristics and anticoagulant treatment, the risk of recurrent thrombosis and bleeding appears to be similar between the two cohorts. Further prospective studies are needed to confirm these findings.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Article
Hematology
Daniele Cattaneo, Cristina Bucelli, Alfredo Marchetti, Marta Lionetti, Elisa Fermo, Valentina Bellani, Claudio De Magistris, Akihiro Maeda, Alessio Marella, Massimo Primignani, Dario Consonni, Umberto Gianelli, Antonino Neri, Luca Baldini, Niccolo Bolli, Alessandra Iurlo
Summary: In this study, we analyzed clinical and molecular data of 58 MPN-SVT patients using NGS. Different subtypes of MPN were identified, with PV and ET being the most common. JAK2V617F was the predominant mutation, while additional mutations in genes such as TET2 and DNMT3A were also observed. Leukemic evolution was associated with a higher number of co-mutations, including high-risk lesions. However, the presence of additional somatic mutations did not affect fibrotic progression, SVT recurrence, thrombo-hemorrhagic complications, or death. The findings highlight the importance of NGS analysis in MPN-related SVT management, aiding in diagnosis and potentially impacting prognosis and treatment strategies.
ANNALS OF HEMATOLOGY
(2023)
Article
Gastroenterology & Hepatology
Marta Magaz, Alberto Alvarez-Larran, Dolors Colomer, Monica Lopez-Guerra, M. Angeles Garcia-Criado, Gabriel Mezzano, Ernest Belmonte, Pol Olivas, Guillem Soy, Francisco Cervantes, Anna Darnell, Jose Ferrusquia-Acosta, Anna Baiges, Fanny Turon, Virginia Hernandez-Gea, Juan Carlos Garcia-Pagan
Summary: The study showed that NGS can identify JAK2-exon 12 mutations in NC-SVT patients that were not previously detected by conventional techniques, and it also detected High Molecular Risk (HMR) variants in approximately one-third of patients with NC-SVT, who seem to have a higher risk of splanchnic rethrombosis. These findings support the potential usefulness of NGS as a diagnostic tool in the management of NC-SVT.
JOURNAL OF HEPATOLOGY
(2021)
Article
Health Care Sciences & Services
Giulio Giordano, Mariasanta Napolitano, Michele Cellurale, Paola Di Carlo, Gerardo Musuraca, Giorgia Micucci, Alessandro Lucchesi
Summary: Circulating endothelial cells (CECs) have been considered as a biomarker of thrombotic risk and are now found to be associated with the pathogenesis of several hematological and solid malignancies. This study aimed to investigate whether CEC levels can predict the course and treatment responses of splanchnic vein thrombosis (SVT) in patients with myeloproliferative neoplasms (MPNs) or liver disease. The results showed that CEC levels were significantly correlated with the extent of venous thrombosis and endothelial cell damage, suggesting that monitoring CEC levels may be helpful in improving the outcome of SVT in MPN patients.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Sofia Camerlo, Jacopo Ligato, Giorgio Rosati, Giovanna Carra, Isabella Russo, Marco De Gobbi, Alessandro Morotti
Summary: Splanchnic vein thrombosis is a rare but potentially life-threatening manifestation of venous thromboembolism that poses challenges in terms of pathology and treatment. It is commonly associated with liver cirrhosis, but can also be caused by myeloproliferative disorders, gastroenterological cancers, abdominal infections, and thrombophilia. Some cases of splanchnic vein thrombosis remain idiopathic. In this review, we discuss the mechanisms of splanchnic vein thrombosis, including new insights on the role of clonal hematopoiesis in the development of idiopathic SVT, which have important implications for treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Elina A. Beleva
Summary: Splanchnic vein thrombosis (SVT) is a relatively rare condition where thrombosis occurs in the vessels of the splanchnic basin. SVT in myelofibrosis may have a high thrombotic risk and may be more dependent on procoagulant mechanisms involving the endothelium. Better thrombotic risk stratification is needed to identify patients who may benefit from antithrombotic prophylaxis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Oncology
Angela Liu, Leonard Naymagon, Douglas Tremblay
Summary: This review explores the treatment considerations of splanchnic vein thromboses (SVTs) associated with myeloproliferative neoplasms (MPNs). Anticoagulation is the mainstay of therapy, and cytoreductive therapy is recommended according to MPN treatment guidelines. Endovascular intervention may be considered in the acute setting to prevent or mitigate potential portal hypertensive complications in patients with occlusive or extensive clot burden.
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
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
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
Hematology
Paul Deschamps, Mufaddal Moonim, Deepti Radia, Natalia Curto-Garcia, Claire Woodley, Sarah Bassiony, Jennifer O'Sullivan, Patrick Harrington, Kavita Raj, Yvonne Francis, Shahram Kordasti, Sahra Ali, Claire N. Harrison, Donal P. McLornan
Summary: MPN-U is a subtype of myeloproliferative neoplasm with diverse features, including elevated lactate dehydrogenase, thrombosis, and other characteristics. Patients require close monitoring and the development of potential prognostic scores.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
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.
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)
Review
Hematology
Jurgen Thiele, Hans Michael Kvasnicka, Attilio Orazi, Umberto Gianelli, Naseema Gangat, Alessandro M. Vannucchi, Tiziano Barbui, Daniel A. Arber, Ayalew Tefferi
Summary: A group of international experts met to update the World Health Organization classification system for hematopoietic tumors and introduced the new International Consensus Classification (ICC) for Myeloid Neoplasms and Acute Leukemias. The focus of this review is on the ICC-2022 category of JAK2 mutation-prevalent myeloproliferative neoplasms (MPNs) and the importance of bone marrow morphology and genetic markers in disease classification and diagnostics.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Hematology
Christian Pecquet, Nicolas Papadopoulos, Thomas Balligand, Ilyas Chachoua, Amandine Tisserand, Audrey Nedelec, Didier Vertommen, Anita Roy, Caroline Marty, Harini Nivarthi, Mira El-Khoury, Eva Hug, Andrea Majoros, Erica Xu, Oleh Zagrijtschuk, Tudor E. Fertig, Daciana S. Marta, Heinz Gisslinger, Bettina Gisslinger, Martin Schalling, Ilaria Casetti, Elisa Rumi, Daniela Pietra, Chiara Cavalloni, Luca Arcaini, Mario Cazzola, Norio Komatsu, Yoshihiko Kihara, Yoshitaka Sunami, Yoko Edahiro, Marito Araki, Roman Lesyk, Veronika Buxhofer-Ausch, Sonja Heibl, Florence Pasquier, Violaine Havelange, Isabell Plo, William Vainchenker, Robert Kralovics, Stefan N. Constantinescu
Summary: Mutant CALR proteins bind to and activate the TpoR in cells, driving the development of myeloproliferative neoplasms. These mutant CALR proteins can be found in patient plasma complexed with sTFR1, which increases their stability. They can specifically interact with TpoR on target cells and promote thrombopoietin-independent colony formation.
Letter
Oncology
Paola Guglielmelli, Chiara Maccari, Benedetta Sordi, Manjola Balliu, Alessandro Atanasio, Carmela Mannarelli, Giulio Capecchi, Ilaria Sestini, Giacomo Coltro, Giuseppe Gaetano Loscocco, Giada Rotunno, Eva Angori, Filippo C. Borri, Ayalew Tefferi, Alessandro M. Vannucchi
BLOOD CANCER JOURNAL
(2023)
Article
Oncology
Giacomo Coltro, Emanuela Sant'Antonio, Giuseppe A. Palumbo, Francesco Mannelli, Valerio De Stefano, Marco Ruggeri, Elena M. Elli, Roberta Zanotti, Oscar Borsani, Irene Bertozzi, Andrea Duminuco, Silvia Betti, Giuseppe Carli, Fabrizio Cavalca, Ilaria Tanasi, Elisa Rumi, Maria L. Randi, Bruno Garibaldi, Giuseppe G. Loscocco, Paola Guglielmelli, Alessandro M. Vannucchi
Summary: This study provides valuable insights into the efficacy and safety of ruxolitinib in a real-world cohort of Italian patients with myelofibrosis. The results highlight the importance of drug exposure, side effects, and treatment response in determining patient outcomes.
Review
Hematology
Nicola Polverelli, Juan Carlos Hernandez-Boluda, Tomasz Czerw, Tiziano Barbui, Mariella D'Adda, Hans Joachim Deeg, Markus Ditschkowski, Claire Harrison, Nicolaus Martin Kroger, Ruben Mesa, Francesco Passamonti, Francesca Palandri, Naveen Pemmaraju, Uday Popat, Damiano Rondelli, Alessandro Maria Vannucchi, Srdan Verstovsek, Marie Robin, Antonio Colecchia, Luigi Grazioli, Enrico Damiani, Domenico Russo, Jessica Brady, David Patch, Slawomir Blamek, Gandhi Laurent Damaj, Patrick Hayden, Donal P. McLornan, Ibrahim Yakoub-Agha
Summary: Splenomegaly is a common complication in myelofibrosis patients and can negatively impact outcomes of allogeneic hematopoietic cell transplantation (HCT). This Position Paper provides a shared position statement on the management of splenomegaly before HCT. The assessment, prevalence, and clinical significance of splenomegaly are discussed, along with the need for therapeutic intervention. Specific scenarios, such as splanchnic vein thrombosis and COVID-19, are also addressed.
LANCET HAEMATOLOGY
(2023)
Review
Hematology
Giuseppe G. Loscocco, Alessandro M. Vannucchi
Summary: Myeloid sarcoma is a distinct tumor mass of myeloid blasts occurring outside of the bone marrow, often in conjunction with acute myeloid leukemia. It can also represent the blast phase of other myeloproliferative neoplasms and myelodysplastic syndromes. Diagnosis is challenging and relies on histopathology, immunohistochemistry, and imaging. Molecular and cytogenetic analysis should be performed to refine the diagnosis and guide treatment decisions.
ANNALS OF HEMATOLOGY
(2023)
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
Giuseppe G. Loscocco, Stefano Ascani, Francesco Mannelli, Magda Zanelli, Giada Rotunno, Raffaella Santi, Alessandro M. Vannucchi
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Hematology
Ayalew Tefferi, Giuseppe G. Loscocco, Faiqa Farrukh, Natasha Szuber, Francesco Mannelli, Animesh Pardanani, Curtis A. Hanson, Rhett P. Ketterling, Valerio De Stefano, Alessandra Carobbio, Tiziano Barbui, Paola Guglielmelli, Naseema Gangat, Alessandro M. Vannucchi
Summary: This study examined the individual prognostic contribution of absolute neutrophil (ANC), lymphocyte (ALC), and monocyte (AMC) counts on overall, leukemia-free, and myelofibrosis-free survival in essential thrombocythemia (ET) patients. The study found that age, ANC count, and ALC count were closely associated with the prognosis of ET patients, and a new 4-tiered risk model (AAA model) was established to evaluate the prognosis of ET patients. The study also suggested a potential role for immune-related biomarkers as prognostic tools in myeloproliferative neoplasms.
AMERICAN JOURNAL OF HEMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Sigal Avraham, Leonie Schuetz, Larissa Kaever, Andreas Dankers, Sapir Margalit, Yael Michaeli, Shahar Zirkin, Dmitry Torchinsky, Noa Gilat, Omer Bahr, Gil Nifker, Maya Koren-Michowitz, Elmar Weinhold, Yuval Ebenstein
Summary: The article presents a new high-throughput platform for multi-color epigenetic analysis, which allows simultaneous detection of methylation and demethylation signals. By utilizing an engineered methyltransferase enzyme and enzymatic glycosylation, the study achieves simultaneous measurement of 5-hydroxymethylcytosine and 5-methylcytosine. The findings demonstrate the potential of using a simple blood test for epigenetic evaluation in clinical samples, benefiting research and patient management.
Editorial Material
Oncology
Alessandro Maria Vannucchi, Paola Guglielmelli
JACC: CARDIOONCOLOGY
(2023)
Article
Medicine, General & Internal
Srdan Verstovsek, Aaron T. Gerds, Alessandro M. Vannucchi, Haifa Kathrin Al-Ali, David Lavie, Andrew T. Kuykendall, Sebastian Grosicki, Alessandra Iurlo, Yeow Tee Goh, Mihaela C. Lazaroiu, Miklos Egyed, Maria Laura Fox, Donal McLornan, Andrew Perkins, Sung -Soo Yoon, Vikas Gupta, Jean -Jacques Kiladjian, Nikki Granacher, Sung-Eun Lee, Luminita Ocroteala, Francesco Passamonti, Claire N. Harrison, Barbara J. Klencke, Sunhee Ro, Rafe Donahue, Jun Kawashima, Ruben Mesa
Summary: This study aimed to compare the clinical effects of momelotinib and danazol in patients with intermediate or high-risk myelofibrosis. The results showed that momelotinib can significantly improve myelofibrosis-associated symptoms, anemia measures, and spleen response compared to danazol, with favorable safety.
Article
Oncology
Tiziano Barbui, Alessandra Carobbio, Juergen Thiele, Naseema Gangat, Elisa Rumi, Alessandro Rambaldi, Alessandro M. Vannucchi, Ayalew Tefferi
Summary: This study applied a parametric Markov model to investigate the impact of incident thrombosis on death or disease progression in patients with polycythemia vera. The results showed that thrombosis was associated with a higher probability of death and had different effects on arterial and venous thrombosis.
BLOOD CANCER JOURNAL
(2023)