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

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

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

This study was aimed to investigate the clinical, pathological and biological features of a special case of chronic myeloid leukemia (CML) with marked thrombocythemic onset. The morphological changes of cells were analyzed by using bone marrow smear and biopsy; Ph chromosome, a specific marker of CML, was assayed by conventional chromosomal analysis and fluorescence in situ hybridization, bcr/abl fusion gene was detected by reverse transcription-polymerase chain reaction. The results indicated that CML mimicked essential thrombocythemia (ET) at presentation was relatively rare and might be misdiagnosed as ET, bone marrow smear and biopsy revealed, marked thrombocytosis and moderate leukocytosis; RT-PCR, FISH and conventional chromosomal analysis demonstrated the existence of Ph chromosome and bcr/abl fusion gene. This special CML could progress into accelerated phase or blast crisis. The megakaryocytes in Ph+ ET were smaller than normal ones and had typically hypolobulated round nuclei. Patients diagnosed as Ph+ ET might progress into CML and showed a high tendency to myelofibrosis and blastic transformation. It is concluded that the value of routine cytogenetical and molecular biological analysis in diagnosis for potential CML cases, which mimicked ET as in this presentation, is very distinctive, and the importance is magnified by the recent availability of imatinib, a specific inhibitor of the bcr/abl tyrosine kinase produced by the Philadelphia chromosome. Every case of "ET" should be tested for the Philadelphia chromosome and bcr/abl transcript.
Adult ; Diagnosis, Differential ; Female ; Fusion Proteins, bcr-abl ; genetics ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; complications ; diagnosis ; genetics ; Megakaryocytes ; pathology ; ultrastructure ; Philadelphia Chromosome ; Reverse Transcriptase Polymerase Chain Reaction ; Thrombocythemia, Essential ; diagnosis