Diagnostic Approach and risk stratification of thrombocytosis: Integrating morphological, cytogenetic features and MPL gene mutation
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Objectives: To evaluate the integration of clinical, morphological, cytogenetic features and MPL gene mutation analysis in Egyptian patients with clonal thrombocytosis and correlate these finding to patient’s outcome. Background: Thrombocytosis can be caused by either reactive or autonomous processes as a result of genetic alterations that affect signaling pathway through gain-of-function activity of MPL (myeloproliferative leukemia virus), Janus kinase 2 (JAK 2), calreticulin (CALR). Methods: This study was conducted on 60 Egyptian patients having clonal thrombocytosis attending to clinical pathology department, Ain Shams University Hospitals during the period from August 2020 to December 2021. Complete blood count, LDH level and MPL gene mutation by Real-time PCR were measured. Results: JAK2 gene mutation was more prevalent than MPL gene mutation in our study (40% and 8.3% respectively). MPL mutation has an aggressive nature than JAK2 mutation as evident by; older age (68.80± 2.28 vs 55.5 ± 8.28 accordingly), more thrombotic manifestation (100% vs 58.3%), higher platelets count (1221.4 ± 309.70 vs 879.38 ± 215.98) and poor response to therapy (0% of MPL positive patients achieved complete response to therapy vs 41.7% for JAK2 positive patients) but with no marked morphological difference regarding megakaryocytes morphology. Conclusion: MPL W515L/K mutations present in 10.3% in essential thrombocythemia Egyptian patients, included in our current study. MPL gene mutation has a bad prognostic effect. Moreover, presence of coexisting JAK2 & MPL mutation have a synergistic bad effect to be evaluated in further larger studies.Keywords:
Thrombocytosis
Thrombocytosis has a large number of potential underlying causes, but the dominant group of hematological conditions for consideration in this setting are the myeloproliferative neoplasms (MPNs). In this chapter, we consider several key linked questions relating to the management of thrombocytosis in MPNs and discuss several issues. First, we discuss the differential diagnosis of thrombocytosis, which myeloid disorders to consider, and practical approaches to the discrimination of each individual MPN from other causes. Second, there have been several major advances in our understanding of the molecular biology of these conditions and we discuss how these findings are likely to be practically applied in the future. Third, we consider whether there is evidence that thrombocytosis contributes to the complications known to be associated with MPN: thrombosis, hemorrhage and transformation to leukemia and myelofibrosis. Last, we review current ideas for risk stratification and management of essential thrombocythemia and polycythemia vera as the 2 entities within the MPN family that are most frequently associated with thrombocytosis.
Thrombocytosis
Myeloproliferative Disorders
Risk Stratification
Ruxolitinib
Hematology
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Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms, characterized by persistent thrombocytosis, platelets >450,000/μL, and evident clonal abnormalities like JAK2 V617F, MPL, CALR mutation and not fulfilling WHO criteria for MDS, CML, PV, and IDA. Here we report a 24-year-old female who presented with headache and was found to have thrombocytosis with a platelet count of 2,141 × 10<sup>3</sup>/μL, diagnosed as ET as per WHO criteria 2008; she required ICU admission and thrombocytapheresis with a favorable outcome.
Thrombocytosis
Plateletpheresis
Anagrelide
Myeloproliferative Disorders
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JAK2 V617F
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Thrombocytosis
Megakaryocytopoiesis
Anagrelide
Plateletpheresis
Myeloproliferative Disorders
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Objective As the calreticulin (CALR) mutation frequency is significantly associated with essential thrombocythemia (ET) and primary myelofibrosis (PMF), this mutation may be an important biomarker in patients with ET and PMF.
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Thrombocytosis is a frequently occured disease in pediatrics.It can be classified into primary thrombocythemia and reactive thrombocytosis.The former can be divided into familial thrombocythemia and essential thrombocythemia.Essential thrombocythemia,chronic myeloproliferative disorders,is very rare in children,but may be associated with thromboembolic and hemorrhagic complications.Reactive thrombocytosis is very common and is due to a variety of conditions,such as acute and chronic infections,bleeding,iron deficiency and so on.Treatment of reactive thrombocytosis should be directed to the primary disease.This review briefly describes thrombocytosis etiology,pathogenesis,prognosis,and treatment of research progress.
Key words:
Children; Thrombocytosis; Pathogenesis; Treatment
Thrombocytosis
Etiology
Pathogenesis
Myeloproliferative Disorders
Anagrelide
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Thrombocytosis
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Various factors can be linked to an increase in platelet count. Yet thrombocytosis could be essential. Many genetic mutations have been associated with essential thrombocytosis, which also increases the possibility of myelofibrotic transformation. In pediatrics, essential thrombocytosis is not well-studied. In this article, we present a rare case of a 42-month-old male patient who presented with essential thrombocytosis associated with myeloproliferative leukemia (MPL) gene mutation.
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Anagrelide
Plateletpheresis
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Mutation in calreticulin (CALR) has been recently detected in essential thrombocythemia (ET) patients lacking JAK2V617F mutation. The absence of JAK2V617F mutation in 50% of patients with ET has indicated the importance of new markers for disease diagnosis, including CALR. Considering the detection of CALR in these patients, in this paper we study the structure and function of CALR protein and JAK2V617F as well as their diagnostic and prognostic role in ET patients.
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Essential thrombocytosis also referred to as essential thrombocythemia, idiopathic thrombocytosis, primary thrombocytosis and hemorrhagic thrombocythemia is an uncommon myeloproliferative disorder of unknown cause in which marked proliferation of the megakaryocytes in the bone marrow leads to elevation of the platelet count. We report here a case of type 2 diabetic patient with essential thrombocytosis.
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Plateletpheresis
Myeloproliferative Disorders
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