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Lancet Haematol 2022 May 18. Epub 2022 May 18.

University Clinic for Haematology, Oncology, Haemostaseology and Palliative Care, Johannes Wesling Medical Centre Minden, University of Bochum, Minden, Germany.

Background: The phase 3b, randomised, open-label RESPONSE-2 study in patients with inadequately controlled polycythaemia vera without splenomegaly showed superiority of the Janus kinase (JAK) 1 and JAK2 inhibitor ruxolitinib versus best available therapy for the primary endpoint of haematocrit control at week 28. Here, we present secondary endpoints of the RESPONSE-2 study after 5 years of follow-up.

Methods: RESPONSE-2 was an open-label, randomised, phase 3b study done at 48 hospitals or clinics across 12 countries in Asia, Australia, Europe, and Canada. Read More

J Taibah Univ Med Sci 2022 Apr 15;17(2):326-331. Epub 2021 Nov 15.

Department of Oral Medicine, Faculty of Dental Medicine, Universitas Airlangga, Indonesia.

Essential thrombocythemia is a condition caused by a high platelet count and a positive JAK2 (V617F) mutation. There is an increasing occurrence of malignancy, such as oral squamous cell carcinoma (OSCC), in patients with essential thrombocythemia. The objective of this case report is to document the novel instance of a patient with OSCC after being diagnosed with essential thrombocythemia and a positive JAK2 (V617F) mutation. Read More

Cureus 2022 Apr 15;14(4):e24166. Epub 2022 Apr 15.

Orthopedics, UZ Leuven, Leuven, BEL.

Prosthetic joint infections (PJIs) still pose a severe challenge for patients and the overall health care system. Infection, and PJI in particular, is a known cause of reactive thrombocytosis. Thromboembolic complications secondary to reactive thrombocytosis are infrequent and arterial thromboses are rarely described. Read More

Clin Case Rep 2022 Apr 7;10(4):e05197. Epub 2022 Apr 7.

Department of Hematology and Oncology Hamad Medical Corporation Doha Qatar.

Platelets are acute-phase reactants, which can be elevated due to a secondary cause or less commonly because of a primary mechanism. Primary disorders include hematological conditions such as myelodysplastic syndrome, acute myeloid leukemia, chronic myeloid leukemia, polycythemia vera, and essential thrombocythemia (ET). Most ET patients have a mutation in the genes regulating thrombopoiesis, , , or genes. Read More

Int J Hematol 2022 May 29;115(5):626-644. Epub 2022 Mar 29.

Department of Experimental and Clinical Medicine, University of Florence, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliero-Universitaria Careggi, Largo Brambilla, 3 pad 27B, 50134, Florence, Italy.

Classic Philadelphia-negative myeloproliferative neoplasms (MPN) include polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF), classified as primary (PMF), or secondary to PV or ET. All MPN, regardless of the underlying driver mutation in JAK2/CALR/MPL, are invariably associated with dysregulation of JAK/STAT pathway. The discovery of JAK2V617F point mutation prompted the development of small molecules inhibitors of JAK tyrosine kinases (JAK inhibitors-JAKi). Read More

Ann Hematol 2022 May 28;101(5):935-951. Epub 2022 Mar 28.

Division of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, One Gustave L Levy Place, Box 1079, New York, NY, 10029, USA.

Thrombotic events are a distinctive feature of the myeloproliferative neoplasms (MPNs) polycythemia vera (PV) and essential thrombocythemia (ET). Patients with these MPNs may also experience a poor quality of life secondary to symptom burden, as well as progression of disease to acute leukemia or myelofibrosis. Over the years, various risk stratification methods have evolved in order to attempt to predict thrombotic risk, which is the largest contributor of morbidity and mortality in these patients. Read More

Thromb Haemost 2022 Mar 23. Epub 2022 Mar 23.

University of Bordeaux, UMR1034, Inserm, Biology of Cardiovascular Diseases,, Pessac, France.

Background: Acquired von Willebrand syndrome (AVWS) is frequent in patients with myeloproliferative neoplasms (MPNs). For VWF functional evaluation, ristocetin cofactor activity by aggregometry (VWF: RCo) is considered the gold standard but have limitations, and automated activities measurement has been developed such as the HemosIl VWF:RCo Werfen® with particle agglutination (VWF:GPIbR).

Objectives: To evaluate the performance of VWF:GPIbR with HemosIL VWF:RCo Werfen® (VWF:GPIbR) versus VWF:RCo in patients with thrombocytosis in the context of MPNs (T-MPNs) and in patients with secondary thrombocytosis (ST). Read More

Cureus 2022 Feb 11;14(2):e22117. Epub 2022 Feb 11.

Internal Medicine, Detroit Medical Center/Wayne State University (DMC/WSU) Sinai Grace Hospital, Detroit, USA.

Iron deficiency anemia is the leading cause of anemia all over the world. Iron deficiency is known to cause reactive thrombocytosis. However, arterial thrombosis secondary to reactive thrombocytosis is a rare entity. Read More

Clin Pathol 2022 Jan-Dec;15:2632010X221083218. Epub 2022 Mar 4.

Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

Thrombopoietin (TPO)-receptor agonists have heralded a paradigm shift in the treatment of refractory immune thrombocytopenia (ITP). Reactive thrombocytosis has been described as a secondary effect of such therapies. However, the phenomenon of extreme thrombocytosis with morphology mimicking a myeloproliferative neoplasm (MPN) followed by fatal thromboembolism is unusual in this setting. Read More

Cureus 2022 Feb 14;14(2):e22217. Epub 2022 Feb 14.

Surgery, Colentina Clinical Hospital, Bucharest, ROU.

Concomitant diagnosis of non-Hodgkin lymphoma (NHL) and acute myeloid leukemia secondary to chronic myeloproliferative neoplasms (MPNs) is rarely reported. Patients with MPNs may have a second neoplasm, and the risk of lymphoid line neoplasms is 2.5-3. Read More

Eur J Case Rep Intern Med 2021 17;8(12):003081. Epub 2021 Dec 17.

Internal Medicine, Rochester General Hospital, Rochester, New York, USA.

Budd-Chiari syndrome (BCS) results from an occlusion of the hepatic venous flow which in turn leads to portal hypertension causing ascites and other signs of liver dysfunction. Here, we present the case of a 43-year-old woman with recurrent ascites who was found to have BCS secondary to an inferior vena cava thrombosis extending into the hepatic veins. Although she had a normal platelet count on admission, additional laboratory investigations revealed an MPL mutation. Read More

Cureus 2021 Dec 15;13(12):e20449. Epub 2021 Dec 15.

Department of Hematology, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, TUR.

Background Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm characterized by persistently elevated platelet count without a clear secondary cause. Although most patients with ET are between 55 and 60 years of age, it has been estimated that 20% of women with ET are diagnosed during reproductive ages. Miscarriage is the most frequent complication of ET that has been hypothesized to be caused by microcirculatory disturbances and placental microinfarction. Read More

Front Immunol 2021 15;12:807600. Epub 2021 Dec 15.

Department of Applied Life Science, The Graduate School, Yonsei University, Seoul, South Korea.

Cancer tissues are not just simple masses of malignant cells, but rather complex and heterogeneous collections of cellular and even non-cellular components, such as endothelial cells, stromal cells, immune cells, and collagens, referred to as tumor microenvironment (TME). These multiple players in the TME develop dynamic interactions with each other, which determines the characteristics of the tumor. Platelets are the smallest cells in the bloodstream and primarily regulate blood coagulation and hemostasis. Read More

Lancet Haematol 2022 Jan;9(1):e38-e48

Mays Cancer Center at UT Health San Antonio MD Anderson, San Antonio, TX, USA.

Background: Patients with essential thrombocythaemia or polycythaemia vera have several symptoms that can worsen their quality of life. We aimed to assess how symptom burden changes over time with cytoreductive therapy.

Methods: We performed a post-hoc analysis of data from MPN-RC 111-a single-arm, open-label, phase 2, multicentre trial at 17 hospitals and cancer centres in Italy and the USA, evaluating the clinical-haematological response to pegylated interferon alfa-2a in patients who were resistant or intolerant to hydroxyurea (NCT01259817)-and MPN-RC 112-a randomised, open-label, phase 3, multicentre trial at 25 hospitals and cancer centres in France, Germany, Israel, Italy, the UK, and the USA, comparing the clinical-haematological response to pegylated interferon alfa-2a versus hydroxyurea in therapy-naive patients with either high-risk essential thrombocythaemia or polycythaemia vera (NCT01258856). Read More

Am J Case Rep 2021 Dec 19;22:e933919. Epub 2021 Dec 19.

Department of Paediatric Endocrine, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, Autonomous University of Barcelona, Sabadell, Spain.

BACKGROUND Moyamoya syndrome is a rare cerebrovascular condition caused by blockage of the arteries of the basal ganglia. The Japanese word "moyamoya" means "a puff of smoke" which describes the appearance of the collateral compensatory vessels that develop over time. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by microcephaly and short stature. Read More

Can J Neurol Sci 2021 Dec 15:1-7. Epub 2021 Dec 15.

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.

Background: Dural venous sinus thrombosis (DVST) is an important cause of papilledema. Patients diagnosed with DVST should undergo work-up for underlying hypercoagulable state, including genetic causes. One important prothrombotic mutation is in the JAK2 gene, which is a driver of myeloproliferative neoplasms including polycythemia vera (PV). Read More

Cancers (Basel) 2021 Dec 6;13(23). Epub 2021 Dec 6.

First Medical Clinic, Department of Medicine-DIMED, University of Padua, 35128 Padua, Italy.

This paper reviews the features of pediatric essential thrombocythemia (ET). ET is a rare disease in children, challenging pediatric and adult hematologists alike. The current WHO classification acknowledges classical Philadelphia-negative MPNs and defines diagnostic criteria, mainly encompassing adult cases. Read More

Thromb Res 2022 01 1;209:47-50. Epub 2021 Dec 1.

Department of Hematology, University Hospital Dubrava, Zagreb, Croatia; School of Medicine, University of Zagreb, Zagreb, Croatia.

Cureus 2021 Oct 26;13(10):e19064. Epub 2021 Oct 26.

Neurology, University of Connecticut, Hartford Hospital, Hartford, USA.

Thrombocytosis can be either primary or secondary, and it can cause venous pro-thrombotic states like cerebral venous thrombosis. Untreated iron deficiency anemia is postulated to cause reactive (secondary) thrombocytosis due to the proliferation of common progenitor cells. Here we present a case of a middle-aged woman with polycystic ovary syndrome and episodes of menorrhagia. Read More

Case Rep Cardiol 2021 20;2021:2563578. Epub 2021 Nov 20.

Dr. Soetomo General Hospital, Surabaya, Indonesia.

Acute limb ischemia (ALI) is rarely observed in young populations. The hypercoagulable state is a notable cause of ALI other than artery disease progression and cardiac embolization. A hypercoagulable state occurs in essential thrombocytosis because of the overproduction of hematopoietic cells secondary to the mutation of the JAK2, CALR, or MPL genes. Read More

Int Rev Cell Mol Biol 2021 28;365:1-69. Epub 2021 Sep 28.

CRIMM, Center for Research and Innovation of Myeloproliferative Neoplasms, AOU Careggi, Florence, Italy; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy. Electronic address:

Classical Philadelphia-negative myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell-derived disorders characterized by uncontrolled proliferation of differentiated myeloid cells and close pathobiologic and clinical features. According to the 2016 World Health Organization (WHO) classification, MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The 2016 revision aimed in particular at strengthening the distinction between masked PV and JAK2-mutated ET, and between prefibrotic/early (pre-PMF) and overt PMF. Read More

Int J Hematol 2022 Feb 2;115(2):208-221. Epub 2021 Nov 2.

Department of Hematology, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.

We conducted a large-scale, nationwide retrospective study of Japanese patients who were diagnosed with essential thrombocythemia based on the diagnostic criteria in the World Health Organization classification. We investigated clinical characteristics, survival rates, and the incidence of thrombohemorrhagic events as well as risk factors for these events. A total of 1152 patients were analyzed in the present study. Read More

Clin Pharmacol 2021 18;13:203-207. Epub 2021 Oct 18.

Department of Pediatrics, Division of Pediatric Critical Care Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Secondary thrombocytosis, often referred to as a reactive thrombocytosis, is more common than primary thrombocytosis and has many potential etiologies including anemia, infection, inflammation, medications, and post-splenectomy. When considering the critically ill patient in the ICU setting potential medication-related etiologies of thrombocytosis should be included in the differential diagnosis. We present a 15-year-old adolescent with a traumatic brain injury who developed thrombocytosis that was temporally related to the administration of enoxaparin. Read More

Platelets 2021 Oct 26:1-3. Epub 2021 Oct 26.

Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Pediatric extreme thrombocytosis (EXT, platelet count > 1000 x 10/µL) is rare. In a single center retrospective analysis of hospitalized children with EXT, infants with congenital diaphragmatic hernia (CDH) were overrepresented. In general pediatric patients, EXT is usually secondary to infection or inflammation, but most of the 14 CDH patients with EXT had no identifiable inciting factor. Read More

Clin Exp Pediatr 2022 Apr 18;65(4):182-187. Epub 2021 Oct 18.

Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, Korea.

We frequently encounter newborn infants with thrombocytosis in the neonatal intensive care unit. However, neonatal thrombocytosis is not yet fully understood. Thrombocytosis is more frequently identified in newborns and young infants, notably more often in those younger than 2 years than in older children or adults. Read More

Cureus 2021 Sep 11;13(9):e17893. Epub 2021 Sep 11.

Internal Medicine, Amrita School of Medicine, Kochi, IND.

A 45-year-old female who was a teacher by profession with a history of chronic asymptomatic anemia in the past presented to our hospital with complaints of intermittent fever for two weeks, cough with expectoration, dyspnea on exertion, and left upper limb edema for four days. She had a history of abdominal pain after food intake. She gave a history of having anemia for the past 23 years. Read More

Transfusion 2021 11 26;61(11):3277-3280. Epub 2021 Sep 26.

Transfusion Medicine Division, Department of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, Michigan, USA.

Background: Essential thrombocythemia (ET) is associated with increased risk of bleeding secondary to acquired von Willebrand syndrome (AVWS). Bleeding in ET requires urgent platelet reduction by cytoreductive therapy such as hydroxyurea or thrombocytapheresis. We report on the efficacy and safety of thrombocytapheresis in managing AVWS in a patient with ET and multivisceral transplantation. Read More

Sci Rep 2021 09 6;11(1):17702. Epub 2021 Sep 6.

Department of Hematology, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.

A subset of essential thrombocythemia (ET) cases are negative for disease-defining mutations on JAK2, MPL, and CALR and defined as triple negative (TN). The lack of recurrent mutations in TN-ET patients makes its pathogenesis ambiguous. Here, we screened 483 patients with suspected ET in a single institution, centrally reviewed bone marrow specimens, and identified 23 TN-ET patients. Read More

Hematology 2021 Dec;26(1):594-600

Department of Hematology and Oncology, Dokkyo Medical University School of Medicine, Tochigi, Japan.

Background: Among myeloproliferative neoplasms, it is often difficult to distinguish essential thrombocythaemia (ET) from prefibrotic-stage primary myelofibrosis (PMF) with thrombocytosis given their overlapping clinicopathological phenotypes.

Case Presentation: We encountered a 45-year-old male who was initially diagnosed with ET and eventually became transformed to secondary myelofibrosis 20 years later. Two distinct types of aberrant megakaryocytes were observed at diagnosis: one type characteristic of ET and the other type characteristic of PMF. Read More

Ann Hematol 2021 Dec 14;100(12):2943-2956. Epub 2021 Aug 14.

Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, Aachen, Germany.

Myeloproliferative neoplasms (MPN), comprising essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF), are hematological disorders of the myeloid lineage characterized by hyperproliferation of mature blood cells. The prediction of the clinical course and progression remains difficult and new therapeutic modalities are required. We conducted a CD34 gene expression study to identify signatures and potential biomarkers in the different MPN subtypes with the aim to improve treatment and prevent the transformation from the rather benign chronic state to a more malignant aggressive state. Read More