Article
Hematology
Luyang Zhang, Xiaoli Chen, Tianyuan Hu, Zefeng Xu, Wenyu Yang, Rongfeng Fu, Lei Zhang, Xiaofan Zhu
Summary: Little is known about the pathophysiological mechanism of essential thrombocythemia (ET) in children due to its rarity. A retrospective analysis of 40 Chinese children with ET from 2015-2021 revealed that more than half of them were asymptomatic at diagnosis. Microvascular symptoms were observed in nearly half of the children, while only two cases experienced vascular events. Driver gene mutations were found in a low proportion of children, and the most prevalent non-driver gene mutations were less common compared to adults with ET.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Review
Cell Biology
Jiale Ma, Shan Chen, Yanqing Huang, Jie Zi, Jinlong Ma, Zheng Ge
Summary: The case report describes a rare instance of a patient with MPL-mutated essential thrombocythemia developing into Philadelphia positive B lymphoblastic leukemia after 13 years. Treatment with a new tyrosine kinase inhibitor led to remission, but the patient eventually relapsed. This case provides evidence on the clonal relationship of myeloproliferative neoplasms and post-MPN acute lymphoblastic leukemia.
Article
Medicine, General & Internal
Mohammed Aljuaid, Ziad Alahmadi, Badriah Alasmari, Arwa Alyamani, Eman Khan
Summary: This article presents a rare case of a 42-month-old male patient with essential thrombocytosis associated with MPL gene mutation. Although various environmental and genetic factors are related to an increase in platelet count, there is limited research on this condition in pediatrics.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Hematology
Yu Chen, Jundan Xie, Zhen Shen, Jie Shi, Suning Chen, Gang Wang
Summary: The study aimed to explore the incidence and characteristics of MPL mutations in AML. MPL mutations were detected in 1.26% of AML patients. Co-mutations with epigenetic modifications, spliceosomes, and transcription factors were observed. MPL-mutated AML showed lower white blood cell counts and poorer complete remission rates.
Article
Hematology
Chiho Furuya, Yoshinori Hashimoto, Soji Morishita, Tadaaki Inano, Tomonori Ochiai, Shuichi Shirane, Yoko Edahiro, Marito Araki, Miki Ando, Norio Komatsu
Summary: This study investigated MPL-mutated patients in Japan and found that they had the highest incidence of thrombotic events, suggesting that increased management is needed to prevent thrombotic recurrence in these patients.
Article
Hematology
Erpeng Yang, Mingjing Wang, Ziqing Wang, Yujin Li, Xueying Wang, Jing Ming, Haiyan Xiao, Richeng Quan, Weiyi Liu, Xiaomei Hu
Summary: This meta-analysis found that MPL+ ET patients have a higher risk of thrombosis compared to JAK2V617F+ patients, and also exhibit differences in peripheral blood cell counts. Further studies are needed to explore potential differences in bleeding and survival between MPL+ and JAK2V617F+ ET patients.
ANNALS OF HEMATOLOGY
(2021)
Article
Oncology
Yan Wang, Fei Ran, Jin Lin, Jing Zhang, Dan Ma
Summary: Simultaneous mutations in JAK2, calreticulin, and MPL genes are often overlooked, leading to misdiagnosis of Philadelphia-negative myeloproliferative neoplasms. A retrospective analysis found that the majority of double mutations in MPN patients were JAKV617F-CALR, followed by JAKV617F-MPL and CALR-MPL mutations. These patients had distinct clinical characteristics and poorer treatment response. Customized treatment may be the best option for MPN patients with co-mutations.
TECHNOLOGY IN CANCER RESEARCH & TREATMENT
(2023)
Review
Clinical Neurology
Rong Chen, Xiaodan Shi, Luojun Wang, Xuan Wang, Jingya Wei, Xiaogang Kang, Fang Du, Shan Gao, Fang Yang, Wen Jiang
Summary: This study retrospectively investigated patients diagnosed with stroke and essential thrombocythemia (ET), and found that CALR mutation is rarely reported in stroke patients with ET. The results showed that ET with CALR mutation can cause both hemorrhagic and ischemic stroke. Identifying this rare cause of stroke is of great importance for precise and individualized prevention and therapy.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2022)
Review
Hematology
Talal Al-Harbi, Mohsen Al-Zahrani, Mohammed Al-Balwi, Aiman Al-Hazmi, Ahmed Alsuhaibani, Nahed Aljafn, Fatimah Alsumari, Latefah Aleshaiwi, Alanoud Alsuhibani, Ohoud Alqasim, Naveed Ahmad
Summary: The study reviewed clinical data of 64 patients with MPL-related FT and found that most patients did not have other genetic mutations except for one patient. The majority of patients did not experience thrombotic or hemorrhagic events during treatment.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Article
Medicine, General & Internal
Jale Yildiz, Hikmettullah Batgi
Summary: This study aimed to investigate whether genetic mutations detected in patients diagnosed with essential thrombocythemia (ET) cause a different clinical phenotype compared to triple-negative ET. The study found that ET with JAK2, CALR, or MPL mutations may have different phenotypic features compared to triple-negative ET, characterized by older age and higher erythrocyte count.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Oncology
Helna Pettersson, Jenni Adamsson, Peter Johansson, Staffan Nilsson, Lars Palmqvist, Bjoern Andreasson, Julia Asp
Summary: This study aimed to analyze genetic variants with prognostic value in a population-based MPN cohort. The study found that mutations in the SRSF2 and U2AF1 genes were significantly correlated with impaired overall survival, but not with an increased risk of vascular events. Several genetic variants with a close to 50% allele frequency were also identified, but they did not show an earlier onset of MPN.
FRONTIERS IN ONCOLOGY
(2023)
Review
Cell Biology
Frederike Kramer, Ann Mullally
Summary: Mutations in calreticulin are important in the development of myeloproliferative neoplasms (MPN). These mutations result in a novel C-terminus of calreticulin that binds abnormally to the thrombopoietin receptor MPL. This surface antigen has become a target for immunotherapy in MPN. Recent advances in the development of mutant calreticulin targeting antibodies for MPN are summarized here.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2023)
Article
Clinical Neurology
Lidong Jiao, Xiaoqin Huang, Chunqiu Fan, Hong Zhao, Zhen Li, Huixin Shen, Jian Chen, Jiangang Duan
Summary: The study found that about one-third of ET patients have CVST, who are typically younger and less likely to have cardiovascular risk factors such as hypertension and coronary artery disease. Patients with CVST have lower platelet counts and are at higher risk of thrombosis.
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2021)
Article
Hematology
Kotaro Shide, Katsuto Takenaka, Akira Kitanaka, Akihiko Numata, Takuro Kameda, Takuji Yamauchi, Atsushi Inagaki, Shohei Mizuno, Akiyoshi Takami, Shinichi Ito, Masao Hagihara, Kensuke Usuki, Takaaki Maekawa, Kazutaka Sunami, Yasunori Ueda, Miyuki Tsutsui, Miki Ando, Norio Komatsu, Keiya Ozawa, Mineo Kurokawa, Shunya Arai, Kinuko Mitani, Koichi Akashi, Kazuya Shimoda
Summary: This study conducted a real-world survey to investigate the clinical characteristics and prognosis of patients with post-essential thrombocythemia myelofibrosis (PET-MF) and post-polycythemia vera myelofibrosis (PPV-MF) in the ruxolitinib era. The findings showed that PET-MF and PPV-MF patients had similar demographics, diagnosis times, and treatment approaches. The overall survival rates were also comparable between the two groups.
ANNALS OF HEMATOLOGY
(2023)
Article
Medicine, General & Internal
Matthew Rendo, Christian Cavacece, Chung-ting J. Kou, Bradley W. Beeler, Joshua Fenderson
Summary: This study reports two cases of young women experiencing thromboembolic events, who were found to have novel mutations in the MPL gene through extended mutational testing. This finding suggests the presence of uncharacterized mutations in familial essential thrombocythemia.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
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
Biophysics
Ryszard Swoboda, Myriam Labopin, Sebastian Giebel, Thomas Schroeder, Nicolaus Kroeger, Mutlu Arat, Bipin Savani, Alexandros Spyridonidis, Rose-Marie Hamladji, Victoria Potter, Ana Berceanu, Ibrahim Yakoub-Agha, Alessandro Rambaldi, Hakan Ozdogu, Jaime Sanz, Arnon Nagler, Mohamad Mohty
Summary: This study compared two different myeloablative conditioning regimens, FluTBI12 and FB4, before allo-HCT in AML patients. The results showed no significant differences in leukemia-free survival, overall survival, relapse incidence, and non-relapse mortality between the two groups. The incidence of acute and chronic GVHD also showed no statistical differences. In conclusion, FluTBI12 and FB4 are comparable myeloablative regimens for AML patients transplanted in CR1 and CR2.
BONE MARROW TRANSPLANTATION
(2023)
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.
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)
Article
Oncology
Francesca Palandri, Haifa Kathrin Al-Ali, Paola Guglielmelli, Mike W. Zuurman, Rajendra Sarkar, Vikas Gupta
Summary: Bone marrow fibrosis (BMF) is a negative prognostic factor for myelofibrosis (MF). The JUMP trial investigated the safety and efficacy of the JAK1/JAK2 inhibitor ruxolitinib in symptomatic MF patients. This post hoc analysis found that patients with low-grade fibrosis (LGF) had better response rates and survival estimates compared to patients with high-grade fibrosis (HGF). Early initiation of ruxolitinib therapy was associated with increased response rates in all patients.
Article
Hematology
Riccardo Paggi, Francesca Mariotti, Jessica Mencarini, Silvia Bresci, Irene Campolmi, Filippo Bartalesi, Beatrice Borchi, Luca Nassi, Benedetta Sordi, Alessandro Maria Vannucchi, Alessandro Bartoloni
Summary: The use of specific inhibitory drugs for intracellular signalling pathways is a risk factor for Aspergillus spp. infections in patients with Waldenstrom's macroglobulinaemia. The overlapping clinical manifestations of the two diseases may require different medical specialties.
MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES
(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
Multidisciplinary Sciences
Gabriele Casirati, Andrea Cosentino, Adele Mucci, Mohammed Salah Mahmoud, Iratxe Ugarte Zabala, Jing Zeng, Scott B. Ficarro, Denise Klatt, Christian Brendel, Alessandro Rambaldi, Jerome Ritz, Jarrod A. Marto, Danilo Pellin, Daniel E. Bauer, Scott A. Armstrong, Pietro Genovese
Summary: Epitope engineering of donor haematopoietic stem/progenitor cells endows haematopoietic lineages with selective resistance to CAR T cells or monoclonal antibodies, without affecting protein function or regulation, enabling the targeting of genes that are essential for leukaemia survival and reducing the risk of tumour immune escape.
Editorial Material
Oncology
Alessandro Maria Vannucchi, Paola Guglielmelli
JACC: CARDIOONCOLOGY
(2023)
Correction
Medicine, General & Internal
S. Verstovsek, A. T. Gerds, A. M. Vannucchi
Correction
Medicine, General & Internal
S. Verstovsek, A. T. Gerds, A. M. Vannucchi
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)