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Am J Hematol 2022 Jun 25. Epub 2022 Jun 25.

Department of Leukemia, The University of Texas M. D. Anderson Cancer Center, Houston, Texas.

Disease Overview: Chronic Myeloid Leukemia (CML) is a myeloproliferative neoplasm with an incidence of 1-2 cases per 100,000 adults. It accounts for approximately 15% of newly diagnosed cases of leukemia in adults DIAGNOSIS: CML is characterized by a balanced genetic translocation, t (9;22) (q34;q11.2), involving a fusion of the Abelson gene (ABL1) from chromosome 9q34 with the breakpoint cluster region (BCR) gene on chromosome 22q11. Read More

Diagnostics (Basel) 2022 May 24;12(6). Epub 2022 May 24.

Department of Clinical and Experimental Medicine, Section of Hemostasis, University of Catania, 95123 Catania, Italy.

Digital droplet PCR (ddPCR) is a recent version of quantitative PCR (QT-PCR), useful for measuring gene expression, doing clonality assays and detecting hot spot mutations. In respect of QT-PCR, ddPCR is more sensitive, does not need any reference curve and can quantify one quarter of samples already defined as "positive but not quantifiable". In the and clonality assessment, ddPCR recapitulates the allele-specific oligonucleotide PCR (ASO-PCR), being not adapt for detecting clonal evolution, that, on the contrary, does not represent a pitfall for the next generation sequencing (NGS) technique. Read More

Rev Med Chil 2021 Dec;149(12):1687-1693

Hospital del Salvador, Santiago, Chile.

Background: Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are chronic hematological disorders characterized by the overproduction of one or more mature myeloid blood cell lineages. Classical Ph-MPN are polycythemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF).

Aim: To assess the epidemiological, clinical and diagnostic characteristics of Ph-MPN in Chile. Read More

Rev Med Chil 2021 Nov;149(11):1532-1538

Hospital del Salvador, Santiago, Chile.

Background: Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are chronic hematological disorders characterized by the overproduction of one or more mature myeloid blood cell lineages. Classical Ph-MPN are polycythemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF).

Aim: To assess the epidemiological, clinical and diagnostic characteristics of Ph-MPN in Chile. Read More

Clin Appl Thromb Hemost 2022 Jan-Dec;28:10760296221097969

Hrombosis Center, 432215Service d'Hématologie Biologique Hôpital Tenon, Hôpitaux Universitaires de l'Est Parisien, Assistance Publique Hôpitaux de Paris, Faculté de Médecine Sorbonne Université, Paris, France.

Thrombotic and hemorrhagic complications are related to a significant rate of morbidity and mortality in patients with myeloproliferative neoplasms (MPNs), they are therefore called "thrombohemorrhagic" syndromes. Several clinical factors, such as age and presence of cardiovascular comorbidities are responsible for thrombotic complications. High blood counts, platelet alterations, presence of JAK2 mutation and possibly of other CHIP mutations such as TET2, DNMT3A, and ASXL1, procoagulant microparticles, NETs formation, endothelial activation and neo-angiogenesis are some of the parameters accounting for hypercoagulability in patients with myeloproliferative neoplasms. Read More

Clin Adv Hematol Oncol 2022 Jun;20(6):375-383

University of Pennsylvania, Perelman Center for Advanced Medicine, Philadelphia, Pennsylvania.

The recent identification of the potential for clonal replication in patients with unexplained cytopenias, resulting in myelodysplastic syndrome (MDS) or myeloid malignancies, has opened the way to identifying a new precursor entity: clonal cytopenia of undetermined significance (CCUS). CCUS has come into the spotlight in recent years with the detection of molecular abnormalities in cytogenetic studies, fluorescence in situ hybridization, and next-generation sequencing. Several clinical trials and retrospective studies are underway to examine further the associated mutation profiles, study the progression of CCUS to MDS or myeloid neoplasm, and investigate potential treatment options. Read More

Oncol Rep 2022 Aug 22;48(2). Epub 2022 Jun 22.

Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig‑Holstein, Campus Kiel, D-24105 Kiel, Germany.

Although chronic myeloid leukemia (CML) can be effectively treated using BCR‑ABL1 kinase inhibitors, resistance due to kinase alterations or to BCR‑ABL1 independent mechanisms remain a therapeutic challenge. For the latter, the underlying mechanisms are widely discussed; for instance, gene expression changes, epigenetic factors and alternative signaling pathway activation. In the present study, ‑CML cell models of resistance against the tyrosine kinase inhibitors (TKIs) imatinib (0. Read More

Br J Haematol 2022 Jun 20. Epub 2022 Jun 20.

Department of Haematology, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

Myeloproliferative neoplasms can be associated with bleeding manifestations which can cause significant morbidities. Although haematologists are aware of the likelihood of this complication in the setting of myeloproliferative neoplasms, it may often be overlooked especially in patients with no extreme elevation of blood counts and those with myelofibrosis. Acquired von Willebrand syndrome and platelet dysfunction are the two common diagnoses to be considered in this regard. Read More

Magy Onkol 2022 Jun 2;66(2):147-152. Epub 2022 Apr 2.

Hematológiai és Őssejt-transzplantációs Osztály, Dél-pesti Centrumkórház, Országos Hematológiai és Infektológiai Intézet, Budapest, Hungary.

One characteristic type of the common somatic mutations causing myeloproliferative neoplasias is the frameshift mutation of the calreticulin gene that leads to proteins of abnormal structure. The pathologic protein induces novel cell biological processes that are fundamental to the onset and maintenance of myeloproliferative diseases. In this review, an insight is provided into these processes, aiding better understanding of the underlining pathobiological processes and eventually to more effective therapy in the future. Read More

Ann Dermatol 2022 Jun 20;34(3):212-215. Epub 2022 May 20.

Department of Dermatology, Gyeongsang National University School of Medicine, Jinju, Korea.

Unlike classic pyoderma gangrenosum (PG), the bullous variant of PG is typically represented by a painful erythematous papule, plaque, and superficial bulla that progress into the ulceration with bullous margin. Generally, bullous PG is most commonly associated with myeloproliferative disorders, such as acute myeloid leukemia (AML). Bullous PG in AML patients rarely occurs, but once it does, it suggests a poor clinical prognosis. Read More

Cureus 2022 Jun 14;14(6):e25924. Epub 2022 Jun 14.

Gastroenterology, Royal Sussex County Hospital, University Hospitals Sussex NHS Foundation Trust, Brighton, GBR.

We present a case series of two patients with splenic vein thrombosis (SVT), a relatively uncommon condition supposed to occur in the context of pancreatitis or pancreatic malignancies. Splenic vein thrombosis may also be seen in cases of chronic pancreatitis, as in one of our patients. At times, splenic vein thrombosis may present with an incidental, isolated finding of gastric varices on computed tomography pulmonary angiogram (CTPA) while investigating for pulmonary embolus; such a result should prompt further investigation to rule out associated splenic vein thrombosis in a sequence. Read More

Biomed Pharmacother 2022 Jun 16;153:113291. Epub 2022 Jun 16.

Key Laboratory of Cardiovascular and Cerebrovascular Medicine, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, Nanjing Medical University, Nanjing 211166, China. Electronic address:

Hydroxyurea (HU), a small molecule with various biological properties, was used in myeloproliferative, tumorous, and non-hematological diseases. However, whether HU plays a role in diabetic cardiomyopathy (DCM) remains unclear. Our study aimed to investigated whether HU could ameliorate DCM or not. Read More

Int J Cardiol 2022 Jun 15. Epub 2022 Jun 15.

Dept. of Cardiology, Zealand University Hospital, 4000 Roskilde, Region Zealand, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Roskilde, Denmark.; Faculty of Health and Medical Sciences Aalborg University, Roskilde, Denmark.

Background: Patients with the hematological cancers Philadelphia-negative Myeloproliferative Neoplasms (MPNs) have an increased risk of cardiovascular disease. However, whether MPNs have an increased burden of cardiac calcification has not been thoroughly investigated. Our aim is to investigate whether patients with MPNs have an increased burden of cardiac calcification that could help explain their increased risk of cardiovascular disease. Read More

Med Oncol 2022 Jun 18;39(9):126. Epub 2022 Jun 18.

Department of Medical Biology, Faculty of Medicine, Ege University, Bornova, 35100, Izmir, Turkey.

Chronic myeloid leukemia (CML) is a myeloproliferative disease that mediated by BCR/ABL oncogenic signaling. CML can be targeted with the imatinib, dasatinib, and nilotinib TKI inhibitors, the latter two of them have been approved for imatinib-resistant or -intolerant CML patients. The TKIs resistance occurs by different molecular mechanisms, including overexpression of BCR-ABL, mutations in the TKI binding site of BCR/ABL, and ER-stress. Read More

Cancer Rep (Hoboken) 2022 Jun 17:e1658. Epub 2022 Jun 17.

Department of Hematology, Osaka General Hospital of West Japan Railway Company, Osaka, Japan.

Background And Case: We herein present a case of the co-occurrence of JAK2-mutated essential thrombocythemia (ET) with chronic lymphocytic leukemia (CLL) harboring the recurrent and rare whole-arm translocation, der(8;17)(q10;q10). The co-existence of lymphoproliferative neoplasms and myeloproliferative neoplasms is suggested to be a rare event. Under this condition, the lymphoproliferative disorder presents a clinically indolent course with a low-risk biological profile. Read More

Medicine (Baltimore) 2022 Jun 17;101(24):e29179. Epub 2022 Jun 17.

Department of Hematology, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou Province, China.

Rationale: Persistent leukocytosis with megalosplenia is a common manifestation among patients with myeloproliferative neoplasm (MPN), especially for chronic myeloid leukemia (CML) patients. Here, we report a rare case of myeloid neoplasm with BCR-PDGFRA rearrangement characterized by obvious elevation of leukocyte count and megalosplenia.

Patient Concerns: A 32-year-old man presented with persistent leukocytosis and megalosplenia. Read More

PLoS One 2022 16;17(6):e0269960. Epub 2022 Jun 16.

Department of Ophthalmology, Zealand University Hospital, Roskilde, Denmark.

Purpose: Peripheral T cell CXCR3 expression has been found uniquely lower in patients having neovascular age-related macular degeneration (nAMD) than in healthy individuals. The CXCR3-axis has been shown to have angiostatic and antifibrotic properties. We have recently investigated systemic markers in patients with myeloproliferative neoplasms (MPNs) because of their higher prevalence of AMD, and we have observed higher systemic chronic low-grade inflammation and immunosenescence signs in MPNs with drusen (MPNd) compared to those with normal retinas (MPNn). Read More

Glob Med Genet 2022 Jun 8;9(2):141-151. Epub 2022 Apr 8.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China.

 Chronic myelomonocytic leukemia (CMML) is a myeloid neoplasm with features of the myelodysplastic syndromes (MDSs) and myeloproliferative neoplasm presenting with peripheral blood monocytosis and an inherent risk for transformation to acute myeloid leukemia, while the abnormal DNA methylation plays a critical role in the pathogenesis of MDS, which is a disease of disordered differentiation. Recently, with the rapid development of molecular biology, hypomethylating agents (HMAs) for the treatment of MDS has gradually become a research focus. The objective of this study was to evaluate the benefits and risks of HMAs for patients with CMML. Read More

Sci Transl Med 2022 Jun 15;14(649):eaba4380. Epub 2022 Jun 15.

Department of Oncology, National Center for Cancer Immune Therapy, Herlev Hospital, Herlev 2730, Denmark.

The majority of JAK2-negative myeloproliferative neoplasms (MPNs) have disease-initiating frameshift mutations in calreticulin (), resulting in a common carboxyl-terminal mutant fragment (CALR), representing an attractive source of neoantigens for cancer vaccines. However, studies have shown that CALR-specific T cells are rare in patients with CALR MPN for unknown reasons. We examined class I major histocompatibility complex (MHC-I) allele frequencies in patients with CALR MPN from two independent cohorts. Read More

Zhonghua Yi Xue Za Zhi 2022 May;102(20):1523-1529

Department of Hematology, Henan Cancer Hospital, the Affiliated Cancer Hospital of Zhengzhou University, Zhengzhou 450008, China.

To explore the related factors affecting the outcome of treatment free remission (TFR) in patients with chronic myeloid leukemia (CML). Clinical data of CML patients with automatic discontinuation of tyrosine kinase inhibitor (TKI) from the CML cooperative organization of Henan province between June 2, 2013 to March 27, 2021 and the follow-up time was ≥ 6 months were retrospectively analyzed. Log-rank test was used for univariate analysis and Cox proportional risk regression model was used for multivariate analysis. Read More

Mod Pathol 2022 Jun 11. Epub 2022 Jun 11.

Department of Hematopathology, UT MD Anderson Cancer Center, Houston, TX, USA.

Myeloproliferative neoplasms (MPNs) are frequently associated with classic driver mutations involving JAK2, MPL or CALR. SRSF2 is among the most frequently mutated splicing genes in myeloid neoplasms and SRSF2 mutations are known to confer a poor prognosis in patients with MPNs. In this study, we sought to evaluate the clinicopathologic spectrum of myeloid neoplasms harboring concurrent MPN-driver mutations and SRSF2 mutations. Read More

J Cell Mol Med 2022 Jun 10. Epub 2022 Jun 10.

Experimental Medicine Unit, De Duve Institute, Université catholique de Louvain, Brussels, Belgium.

Penttinen syndrome is a rare progeroid disorder caused by mutations in platelet-derived growth factor (PDGF) receptor beta (encoded by the PDGFRB proto-oncogene) and characterized by a prematurely aged appearance with lipoatrophy, skin lesions, thin hair and acro-osteolysis. Activating mutations in PDGFRB have been associated with other human diseases, including Kosaki overgrowth syndrome, infantile myofibromatosis, fusiform aneurysms, acute lymphoblastic leukaemia and myeloproliferative neoplasms associated with eosinophilia. The goal of the present study was to characterize the PDGFRB p. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Jun;30(3):836-843

Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing 100091, China,E-mail:

Objective: To analysis the specific protein markers of essential thrombocythemia (ET) based on proteomics technology, to explore and verify the differential protein related to platelet activation.

Methods: Blood samples were obtained from ET patients and healthy people and a certain protein mass spectrometry was detected using label-free quantitative technology. The proteins relative abundance increased or down-regulated by 1. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Jun;30(3):813-818

Department of Hematology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing 400010, China,E-mail:

Objective: To explore the relationship between clinical features, peripheral blood cell count, coagulation function, gene mutation and hemorrhagic events and thrombotic events in essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis(PMF) patients.

Methods: Clinical data of 78 patients with ET, PV, and PMF who were admitted to the Second Affiliated Hospital of Chongqing Medical University between September 2019 and August 2020 were retrospectively analyzed. Information about sex, age, gene mutation, peripheral blood cell count, coagulation function, and hemorrhagic and thrombotic events was included, and the influence of these data on the occurrence of hemorrhagic and thrombotic events was estimated. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Jun;30(3):677-687

Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine of University of Electronic Science and Technology of China, Chengdu 610000, Sichuan Province, China,E-mail:

Objective: To investigate the effects of dasatinib on the maturation of monocyte-derived dendritic cells (moDCs) derived from healthy donors (HDs) and chronic myelogenous leukemia (CML) patients.

Methods: Peripheral blood mononuclear cells (PBMCs) were isolated from HDs (n=10) and CML patients (n=10) who had got the remission of MR4.5 with imatinib treatment. Read More

Zhonghua Xue Ye Xue Za Zhi 2022 Apr;43(4):323-329

Department of Hematology, Nan fang Hospital, Southern Medical University, Guangzhou 510515, China.

To assess the effect of gene mutations on the efficacy of ruxolitinib for treating myelofibrosis (MF) . We retrospectively analyzed the clinical data of 56 patients with MF treated with ruxolitinib from July 2017 to December 2020 and applied second-generation sequencing (NGS) technology to detect 127 hematologic tumor-related gene mutations. Additionally, we analyzed the relationship between mutated genes and the efficacy of ruxolitinib. Read More

Zhonghua Xue Ye Xue Za Zhi 2022 Apr;43(4):293-299

Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, China.

To analyze the influencing factors of iron metabolism assessment in patients with myelodysplastic syndrome. MRI and/or DECT were used to detect liver and cardiac iron content in 181 patients with MDS, among whom, 41 received regular iron chelation therapy during two examinations. The adjusted ferritin (ASF) , erythropoietin (EPO) , cardiac function, liver transaminase, hepatitis antibody, and peripheral blood T cell polarization were detected and the results of myelofibrosis, splenomegaly, and cyclosporine were collected and comparative analyzed in patients. Read More

Zhonghua Xue Ye Xue Za Zhi 2022 May;43(5):436-440

Department of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

World J Surg Oncol 2022 Jun 8;20(1):186. Epub 2022 Jun 8.

Department of Histopathology, Indus Hospital and Health Network, Karachi, 75190, Pakistan.

Background: Extramedullary hematopoiesis (EMH) is a proliferation of hematopoietic tissue outside of the bone marrow medullary space. It is a pathophysiologic response, more often associated with either a benign reactive hematological disease or a myeloproliferative neoplasm (MPN). Identification of EMH in adults is always pathologic. Read More

Cell Metab 2022 Jun;34(6):801-802

Department of Biochemistry and Biomedical Sciences, McMaster University, Hamilton, ON, Canada.

In this issue of Cell Metabolism, Liu et al. demonstrate that Prmt7 can regulate the onset and progression of leukemogenesis by inhibiting self-renewal capacity of leukemic stem cells (LSCs) as modeled in a murine version of chronic myeloid leukemia (CML). Read More