Philadelphia chromosome-negative classical myeloproliferative neoplasms include polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In recent years, there have been major advances in our understanding of the molecular pathophysiology of these rare subgroups of myeloproliferative neoplasms. The World Health Organization diagnostic criteria were revised in 2008, and incorporated new somatic mutations of JAK2 V617F, found in most patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Subsequently, other mutations (MPL W515 and CALR) were discovered and this led to substantial changes in the diagnosis and treatment guidelines. This article reviews the diagnostic criteria for Philadelphia chromosome-negative classical myeloproliferative neoplasms, and changes in the diagnostic algorithm for clinical practice in Korea.
Diagnosis* ; Humans ; Korea ; Polycythemia Vera ; Primary Myelofibrosis ; Thrombocythemia, Essential ; World Health Organization

Essential thrombocythemia in childhood is a rare clonal myeloproliferative disorder in the multipotent stem cell origin and is associated with an increased risk of thrombohemorrhagic complications. The one of diagnostic criteria is a platelet count of more than 600,000/mm3. We diagnosed this disease in 8 year old boy incidentally and treated with hydroxyurea. We report a case of essential thrombocythemia to summarize the current trends in the diagnosis and management with a brief review of related literatures.
Child ; Diagnosis ; Humans ; Hydroxyurea ; Male ; Multipotent Stem Cells ; Myeloproliferative Disorders ; Platelet Count ; Thrombocythemia, Essential*

BACKGROUND: Essential thrombocythemia (ET) has a chronic course, but its main clinical features are thrombosis and hemorrhage. We evaluated the clinical features, including the vascular complications in patients with ET, during the disease courses and we determined the predictable risk factors for major vascular complications. METHODS: From 1991 to 2004, the medical records for 69 patients with ET were retrospectively reviewed for evaluating the clinical features, including the vascular complications, and the predictable risk factors for major vascular complications were analyzed. RESULTS: Major vascular thrombotic and hemorrhagic complications were observed in 16 patients (23.2%) and 6 patients (8.7%) at the time of diagnosis, and in 13 (18.8%) and 9 patients (13.0%) during follow-up. The incidence of major vascular thromboses in the older group (age >60 years) was higher than that in the younger group (< or =60 years) (34.2% vs 9.7%, respectively, P=0.016) at the time of diagnosis. During follow-up, the major vascular thrombosis risk was increased in patients with a previous thrombosis history (37.5% vs 13.2%, respectively, P=0.029) and in patients with 2 or more combined cardiovascular risk factors (44.4% vs 15.0%, respectively, P=0.035). The probability of 10-year survival in patients with thrombo-hemorrhagic complications during the disease course was lower than that in patients without complication (60.5% vs 93.7%, respectively, P=0.046). CONCLUSION: Advanced age, a previous thrombosis history and the combined cardiovascular risk factors were the risk factors for major vascular thrombosis in patients with ET. Prevention of thrombo-hemorrhagic complications is the most important therapeutic goal. Treatment strategies according to risk factors ought to be prospectively investigated.
Diagnosis ; Follow-Up Studies ; Hemorrhage ; Humans ; Incidence ; Medical Records ; Retrospective Studies ; Risk Factors ; Thrombocythemia, Essential* ; Thrombosis

Aged ; Female ; Humans ; Myocardial Infarction ; diagnosis ; etiology ; Stents ; adverse effects ; Thrombocythemia, Essential ; complications ; diagnosis ; Thrombosis ; diagnosis ; etiology

Bone marrow examination is useful in the diagnosis and staging of hematologic disease. This procedure is generally considered safe; however, there are several adverse events associated with bone marrow biopsy. The most frequent and serious adverse event is hemorrhage. Risk factors include coagulopathy, myeloproliferative disorders, and anticoagulant or antiplatelet medications. Most hemorrhage is local hematoma; however, infrequently retroperitoneal hemorrhage occurs. In the case of massive hemorrhage, operation or angiographic embolization may be required. We report on a case of retroperitoneal hemorrhage after bone marrow aspiration and biopsy in an essential thrombocythemia patient.
Biopsy* ; Bone Marrow Examination ; Bone Marrow* ; Diagnosis ; Hematologic Diseases ; Hematoma ; Hemorrhage* ; Humans ; Methods ; Myeloproliferative Disorders ; Risk Factors ; Thrombocythemia, Essential*

OBJECTIVETo investigate the value of myeloproliferative neoplasms Symptom Assessment Form total symptom score (MPN-SAF-TSS)in assessing constitutional symptoms among Ph/BCR- ABL negative myeloproliferative neoplasm (MPN)patients.

METHODSA cohort of 628 MPN patients were evaluated by MPN- SAF- TSS.

RESULTSFatigue was the most common symptom (76.0%, 76.2%vs 89.9%)and the highest average severity of all the symptoms (3.46±2.97, 3.47±2.99vs 4.74±3.04 scores)among polycythemia vera (PV), essential thrombocythemia (ET)and primary myelofibrosis (PMF)patients. Using the MPN- SAF- TSS analysis, PMF patients showed highest burden of symptoms (28.9 ± 19.1), followed by PV patients (19.2 ± 16.8), and finally ET patients (17.1 ± 15.3). Instinct differences were observed between PMF and PV patients (χ(2)=6.371,P=0.021), PMF and ET patients (χ(2)= 14.020,P<0.001). No significant difference was found between PV and ET patients (χ(2)=2.281,P=0.191).

CONCLUSIONMPN- SAF- TSS was effective in evaluating the symptomatic burden among Ph/BCRABL negative MPN patients and could be used for serial assessment in this clinical setting.

Humans ; Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative ; diagnosis ; physiopathology ; Polycythemia Vera ; complications ; Primary Myelofibrosis ; complications ; Thrombocythemia, Essential ; complications

The World Health Organization (WHO) Classification of Tumors of Haematopoietic and Lymphoid Tissues was recently published in a revised fourth edition. The categories of myeloproliferative neoplasms (MPNs) have not significantly changed since the 2008 fourth edition of the classification; however, newly discovered mutations including CALR and CSF3R and improved characterizations and standardizations of morphological features of some entities, particularly BCR-ABL1-negative MPNs, have impacted the diagnostic criteria of disease entities, increasing the reliability and reproducibility of diagnoses. The 2017 revised edition attempts to incorporate new clinical, prognostic, morphologic, and genetic data that have emerged since the last edition. This article reviews the major changes in the classification and their rationale for MPN classification within the revised 2017 WHO system.
Classification ; Diagnosis ; Global Health* ; Lymphoid Tissue ; Myeloproliferative Disorders ; Polycythemia Vera ; Primary Myelofibrosis ; Thrombocythemia, Essential ; World Health Organization*

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. After many years, a few patients with ET may develop bone marrow (BM) fibrosis and rarely develop osteosclerosis. A 60-yr-old female was admitted due to severe left upper quadrant abdominal discomfort. She had been diagnosed as ET 19 yrs ago. On liver computed tomography severe splenomegaly was shown. Laboratory tests revealed WBC 24.3x10(9)/L, hemoglobin 13.4 g/dL, platelets 432x10(9)/L, lactate dehydrogenase 4,065 IU/L (reference range; 240-480). Blood smear demonstrated leukoerythroblastosis, teardrop cells, and giant and hypogranular platelets. BM study revealed inadequate aspirate due to dry tap. BM biopsy showed clusters of dysplastic megakaryocytes, grade 3 fibrosis, and severe osteosclerosis. Major/minor BCR-ABL1 rearrangement and JAK2 V617F mutation were not detected. Cytogenetic studies revealed normal karyotype. According to the 2008 WHO diagnostic criteria, the patient was diagnosed as having post-essential thrombocythemia myelofibrosis with severe osteosclerosis.
Bone Marrow/pathology ; Female ; Humans ; Megakaryocytes/pathology ; Middle Aged ; Osteosclerosis/complications/*diagnosis ; Primary Myelofibrosis/complications/*diagnosis ; Splenomegaly/etiology ; Thrombocythemia, Essential/complications/*diagnosis ; Tomography, X-Ray Computed

BACKGROUND: For the diagnosis of essential thrombocythemia (ET), no single clinical or laboratory finding of diagnostic value is available and a differential diagnosis of other myeloproliferative neoplasms or reactive thrombocytosis (RT) is needed. Following recent developments in automated blood cell analyzers, various platelet indices can now be measured. In this study, we analyzed whether platelet counts and 6 platelet indices can be used for the differentiation of ET from RT in patients with a platelet count of 600x10(3)/microliter or more. METHODS: The subjects studied were 31 patients with ET and 224 patients with RT. The platelet counts, mean platelet volume (MPV), plateletcrit (PCT), platelet distribution width (PDW), mean platelet mass (MPM), mean platelet component concentration (MPC) and large platelets (LPLT) were measured by ADVIA 120 (Bayer Diagnostics, USA). The mean values of each item were compared between the two patient groups and the sensitivity and specificity of each item in the diagnosis of ET were determined by ROC curve analysis. RESULTS: In essential thrombocythemia, all parameters except MPC were significantly higher than in reactive thrombocytosis. For the diagnosis of ET, the sensitivity and specificity were: 74.2% and 84.4%, when the platelet count was > or = 820x10(3)/microliter; 80.6% and 80.0%, when the plateletcrit was > or =0.63%; and 64.5% and 99.1%, respectively, when LPLT was > or = 23x10(3)/microliter. CONCLUSIONS: The platelet counts and platelet indices are useful for the differential diagnosis of thrombocytosis. The plateletcrit and LPLT are particularly useful for the diagnosis of ET when the platelet count is markedly increased.
Aged ; Aged, 80 and over ; Diagnosis, Differential ; Female ; Humans ; Male ; Middle Aged ; Platelet Count/*instrumentation/methods ; ROC Curve ; Sensitivity and Specificity ; Thrombocythemia, Essential/*diagnosis ; Thrombocytosis/*diagnosis

BACKGROUND: Differential diagnosis may be difficult between essential thrombocythemia (ET) and chronic myelogenous leukemia (CML) with marked thrombocytosis, mild leukocytosis, and a few immature myeloid cells in peripheral blood at onset. The aim of the present study was to analyze clinical, hematologic, and molecular features of patients with CML, mimicking ET. METHODS: Among patients from Ewha and Gachon Gil Medical Center between January 1990 and June 2001, our study group included 3 patients with Ph-positive CML with marked thrombocy-tosis (>600 X 10(9)/L) and mild leukocytosis (<20 X 10(9)/L) and 12 patients of the typical ET as a con-trol group. RESULTS: Peripheral blood basophilia (4 - 12%) and a few immature granulocytes (1 - 9%) were the characteristic features of CML with thrombocythemic onset, compared with the typical ET. There was no evidence of bone marrow eosinophilia, basophilia, or fibrosis in CML with thrombocythemic onset. CONCLUSIONS: Our study suggests that peripheral basophilia as well as the positivity of Ph chromo-somes or bcr/abl gene rearrangement can be a clue to diagnosis of CML.
Bone Marrow ; Diagnosis ; Diagnosis, Differential ; Eosinophilia ; Fibrosis ; Gene Rearrangement ; Granulocytes ; Humans ; Hydrogen-Ion Concentration ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive* ; Leukocytosis ; Myeloid Cells ; Thrombocythemia, Essential ; Thrombocytosis