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World Journal of Clinical Cases 2019年第9期7卷 1087-1092页

作者： Xue-Bing Shi Ji-Fa Jiang Feng-Xiang Jin Wei Cheng Department of Hematology and Oncology Tongling People's Hospital

BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia(CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617 F mutation.CASE SUMMARY A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46,XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis,rearrangement of BCR-ABL1(32.31%) by fluorescent polymerase chain reaction(PCR) and mutation of JAK2 V617 F(10%) by PCR and Sanger DNA sequencing.The patient was diagnosed with CML and JAK2 V617 F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCRABL1(IS) was 0.143%, while the mutation rate of JAK2 V617 F rose to 15%.CONCLUSION Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies.

关键词： Chronic myeloid leukemia JAK2 V617F BCR-ABL1 Imatinib myeloproliferative neoplasm Case report

PVSG and WHO vs European Clinical,Molecular and Pathological Criteria for prefibrotic myeloproliferative neoplasms

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World Journal of Hematology 2013年第3期2卷 71-88页

作者： Jan Jacques Michiels Zwi Berneman Wilfried Schroyens King H Lam Hendrik De Raeve Department of Hematology University Hospital AntwerpWilrijkstraat 10B-2650 EdegemAntwerpBelgium European Working Group on myeloproliferative Neoplasms Goodheart InstituteErasmus TowerVeenmos 133069 ATRotterdamThe Netherlands Department of Pathology Erasmus University Medical Center RotterdamDr.Molewaterplein 503015 GD RotterdamThe Netherlands Department of Pathology OLV Hospital Aalst and University Hospital Brussels OLV ZiekenhuisMoorselbaan 164B-9300 AalstBelgium

The Polycythemia Vera Study Group(PVSG),World Health Organization(WHO) and European Clinical,Molecular and Pathological(ECMP) classifications agree upon the diagnostic criteria for polycythemia vera(PV) and advanced primary myelofibrosis(MF). Essential thrombocythemia(ET) according to PVSG and 2007/2008 WHO criteria comprises three variants of JAK2V617 F mutated ET when the ECMP criteria are applied. These include normocellular ET,hypercellular ET with features of early PV(prodromal PV),and hypercellular ET due to megakaryocytic,granulocytic myeloprolifera-tion(ET.MGM). Evolution of prodromal PV into overt PV is common. Development of MF is rare in normocellular ET(WHO-ET) but rather common in hypercellular ET.MGM. The JAK2V617 F mutation burden in heterozygous mutated normocellular ET and in heterozygous/homozygous or homozygous mutated PV and ET.MGM is of major prognostic significance. JAK2/MPL wild type ET associated with prefibrotic primary megakaryocytic and granulocytic myeloproliferation(PMGM) is characterized by densely clustered immature dysmorphic megakaryocytes with bulky(bulbous) hyperchromatic nuclei,which are never seen in JAK2V617 F mutated ET,and PV and also not in MPL515 mutated normocellular ET(WHO-ET). JAK2V617 mutation burden,spleen size,LDH,circulating CD34+ cells,and pre-treatment bone marrow histopathology are mandatory to stage the myeloproliferative neoplasms ET,PV,PMGM for proper prognosis assessment and therapeutic implications. MF itself is not a disease because reticulin fibrosis and reticulin/collagen fibrosis are secondary responses of activated polyclonal fibroblasts to cytokines released from the clonal myeloproliferative granulocytic and megakaryocytic progenitor cells in ET.MGM,PV and PMGM.

关键词： myeloproliferative neoplasms Essential thrombocythemia Prodromal polycythemia vera Polycythemia vera Myelofibrosis JAK2V617F mutation JAK2 wild type myeloproliferative neoplasm Bone marrow pathology

European vs 2015-World Health Organization clinical molecular and pathological classification of myeloproliferative neoplasms

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World Journal of Hematology 2015年第3期4卷 16-53页

作者： Jan Jacques Michiels Fransje Valster Jenne Wielenga Katrien Schelfout Hendrik De Raeve International Hematology and Blood- coagulation Research Center Goodheart Institute and Foundation in Nature Medicine European Working Group on Myeloproliferative Neoplasms Department of Internal Medicine BRAVIS Hospital Department of Internal Medicine Admiraal De Ruyter Hospital Department of Pathology BRAVIS Hospital Department of Pathology OLV Hospital Aalst OLV Ziekenhuis Department of Pathology University Hospital

The BCR/ABL fusion gene or the Ph^1-chromosome in the t(9;22)(q34;q11)exerts a high tyrokinase acticity,which is the cause of chronic myeloid leukemia(CML).The1990 Hannover Bone Marrow Classification separated CML from the myeloproliferative disorders essential thrombocythemia(ET),polycythemia vera(PV)and chronic megakaryocytic granulocytic myeloproliferation(CMGM).The 2006-2008 European Clinical Molecular and Pathological(ECMP)criteria discovered 3variants of thrombocythemia:ET with features of PV(prodromal PV),"true"ET and ET associated with CMGM.The 2008 World Health Organization(WHO)-ECMP and 2014 WHO-CMP classifications defined three phenotypes of JAK2^(V617F)mutated ET:normocellular ET(WHO-ET),hypercelluar ET due to increased erythropoiesis(prodromal PV)and ET with hypercellular megakaryocytic-granulocytic myeloproliferation.The JAK2^(V617F)mutation load in heterozygous WHO-ET is low and associated with normal life expectance.The hetero/homozygous JAK2^(V617F)mutation load in PV and myelofibrosis is related to myeloproliferative neoplasm(MPN)disease burden in terms of symptomaticsplenomegaly,constitutional symptoms,bone marrow hypercellularity and myelofibrosis.JAK2 exon 12mutated MPN presents as idiopathic eryhrocythemia and early stage PV.According to 2014 WHO-CMP criteria JAK2 wild type MPL^(515)mutated ET is the second distinct thrombocythemia featured by clustered giant megakaryocytes with hyperlobulated stag-horn-like nuclei,in a normocellular bone marrow consistent with the diagnosis of"true"ET.JAK2/MPL wild type,calreticulin mutated hypercellular ET appears to be the third distinct thrombocythemia characterized by clustered larged immature dysmorphic megakaryocytes and bulky(bulbous)hyperchromatic nuclei consistent with CMGM or primary megakaryocytic granulocytic myeloproliferation.

关键词： myeloproliferative disorders Essential thrombocythemia Primary megakaryocytic granulocytic myeloproliferation Myelofibrosis JAK2V617F mutation MPL515 mutation Calreticulin mutation JAK2 wild type myeloproliferative neoplasm Bone marrow pathology Polycythemia vera

The JAK2<sup>V617F</sup>Mutation Seen in myeloproliferative Neoplasms (MPNs) Occurs in Patients with Inflammatory Bowel Disease: Implications of a Pilot Study

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International Journal of Clinical Medicine 2013年第12期4卷 10-15页

作者： Emil Kuriakose Elena Lascu Y. Lynn Wang Stefani Gjoni Nicholas C. P. Cross Ruth Baumann Kerilee Tam Ellen Scherl Randy S. Longman Richard T. Silver Department of Pathology University of Chicago Chicago USA Division of Hematology and Medical Oncology Weill Cornell Medical College New York USA Jill Roberts Center for Inflammatory Bowel Disease Division of Gastroenterology Weill Cornell Medical College New York USA Wessex Regional Genetics Laboratory Salisbury District Hospital University of Southampton Salisbury UK

Patients with IBD frequently have hematologic abnormalities suggestive of JAK2 mutated MPNs, but are traditionally classified as reactive processes. Haplotype 46/1 is a well-characterized genetic predisposition, common to both inflammatory bowel disease (IBD) and myeloproliferative neoplasms (MPN). In view of this shared genetic predisposition, we measured the frequency of the JAK2V617F mutation in IBD patients with thrombocytosis or erythrocytosis, in order to ascertain whether a higher than expected proportion of these patients may in fact have underlying MPNs. 1121 patients were identified with an active diagnosis of Crohn’s disease or ulcerative colitis, of which 474 had either thrombocytosis or erythrocytosis. Patients with abnormal counts were tested for the JAK2V617F mutation during routine follow-up visits. Interim analysis of first 23 patients tested was performed to assess whether the JAK2V617F positivity rate was statistically significant compared with known expected frequencies in a comparable control population. Of 23 patients, 13 patients had thrombocytosis and 10 had erythrocytosis. Three patients with thrombocytosis (23%), and 1 patient with erythrocytosis (10%), tested positive for JAK2V617F, exceeding the expected thresholds for statistical significance. In patients with IBD and thrombocytosis or erythrocytosis, a meaningful proportion may harbor an undiagnosed MPN, as indicated by clonal abnormalities such as JAK2V617F. These findings imply the need for increased testing of these patients for clonal hematologic abnormalities, and importantly, if found, suggest the need for therapeutic strategies with drugs, such as JAK2 inhibitors, in patients with both MPN and IBD.

关键词： JAK2V617F myeloproliferative Neoplasms Inflammatory Bowel Disease Thrombocythemia Polycythemia

Efficacy of Inchinkoto for Liver Cirrhosis in an Infant with Down Syndrome Complicated by Transient myeloproliferative Disorder

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Open Journal of Pediatrics 2017年第1期7卷 26-31页

作者： Ryuta Washio Masaya Takahashi Sohsaku Yamanouchi Masato Hirabayashi Kenji Mine Yukihiro Noda Eriko Kanda Atsushi Ohashi Hirohide Kawasaki Kazunari Kaneko Department of Pediatrics Kansai Medical University Osaka Japan

Several patients with Down syndrome complicated by transient myeloproliferative disorder may develop liver cirrhosis for which no effective therapeutic agent exists. We report the infant with Down syndrome complicated by transient myeloproliferative disorder and liver cirrhosis who was successfully treated by Inchinkoto, the Japanese herbal medicine. In the present case, Inchinkoto appeared to prevent both histological and serological aggravation of liver cirrhosis. To the best of our knowledge, this is the first report of preventive effect of Inchinkoto on liver cirrhosis, and it can be a choice of treatment for infants with Down syndrome complicated by liver cirrhosis.

关键词： Inchinkoto Transient myeloproliferative Disorder Down Syndrome Liver Fibrosis Japanese Herbal Medicine

Treatment of Budd-Chiari syndrome with a focus on transjugular intrahepatic portosystemic shunt

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World Journal of Hepatology 2013年第1期5卷 38-42页

作者： Anders Bay Neumann Stine Degn Andersen Dennis Tφnner Nielsen Peter Holland-Fischer Hendrik Vilstrup Henning Grφnbk Department of Medicine V (Gastroenterology and Hepatology) Aarhus University HospitalDK-8000 Aarhus CDenmark Department of Radiology R Aarhus University HospitalDK-8000 Aarhus CDenmark

AIM:To evaluate long-term complications and survival in patients with Budd-Chiari syndrome (BCS) referred to a Danish transjugular intrahepatic portosystemic shunt (TIPS) centre.METHODS:Twenty-one consecutive patients from 1997-2008 were retrospectively included [15 women and 6 men,median age 40 years (range 17-66 years)].Eighteen Danish patients came from the 1.8 million catchment population of Aarhus University Hospital and three patients were referred from Scandinavian hospitals.Management consisted of tests for underlying haematological,endocrinological,or hypercoagulative disorders parallel to initiation of specific treatment of BCS.RESULTS:BCS was mainly caused by thrombophilic (33%) or myeloproliferative (19%) disorders.Fortythree percents had symptoms for less than one week with ascites as the most prevalent finding.Fourteen (67%) were treated with TIPS and 7 (33%) were manageable with treatment of the underlying condition and diuretics.The median follow-up time for the TIPS-treated patients was 50 mo (range 15-117 mo),and none required subsequent liver transplantation.Ascites control was achieved in all TIPS patients with a marked reduction in the dose of diuretics.A total of 14 TIPS revisions were needed,mostly of uncovered stents.Two died during follow-up:One non-TIPS patient worsened after 6 mo and died in relation to transplantation,and one TIPS patient died 4 years after the TIPS-procedure,unrelated to BCS.CONCLUSION:In our BCS cohort TIPS-treated patients have near-complete survival,reduced need for diuretics and compared to historical data a reduced need for liver transplantation.

关键词： Ascites Budd-Chiari syndrome myeloproliferative disorder Thrombophilia Thrombosis Transjugular intrahepatic portosystemic shunt

myeloproliferative and thrombotic burden and treatment outcome of thrombocythemia and polycythemia patients

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World Journal of Critical Care Medicine 2015年第3期4卷 230-239页

作者： Jan Jacques Michiels International Collaborations and Research on myeloproliferative Neoplasms (ICAR.MPN) and Goodheart Institute and Foundation in Nature Medicine and Health

Prospective studies indicate that the risk of microvascular and major thrombosis in untreated thrombocythemia in various myeloproliferative neoplasms(MPN-T) is not age dependent and causally related to platelet-mediated thrombosis in early, intermediate and advanced stages of thrombocythemia in MPN-T. If left untreated both microvascular and major thrombosis frequently do occur in MPN-T, but can easily be cured and prevented by low dose aspirin as platelet counts are above 350 × 109/L. The thrombotic risk stratification in the retrospective Bergamo study has been performed in 100 essential thrombocythemia(ET) patients not treated with aspirin thereby overlooking the discovery in 1985 of aspirin responsive platelet-mediated arteriolar and arterial thrombotic tendency in MPN-T disease of ET and polycythemia vera(PV) patients. The Bergamo definition of high thrombotic risk and its persistence in the 2012 International Prognostic Score for ET is based on statistic mystification and not applicable for low and intermediate MPN-T disease burden in ET and PV patients on aspirin. With the advent of molecular screening of MPN patients, MPN-T disease associated with significant leukocytosis, thrombocytosis, constitutional symptoms and/or moderate splenomegaly are candidates for low dose peglyated interferon(Pegasys R, 45 mg/m L once per week or every two weeks) as the first line myeloreductive treatment option in JAK2V617 F mutated MPN-T disease in ET and PV patients. If non-responsive to or side effects induced by IFN, hydroxyurea is the second line myelosuppressive treatment option in JAK2V617 F mutated ET and PV patients with increased MPN-T disease burden.

关键词： myeloproliferative neoplasms Essential thrombocythemia Polycythemia vera JAK2^V617F mutation Aspirin Interferon Hydroxyurea

Two cases of chronic myelomonocytic leukemia combined with monoclonal gammopathy of undetermined significance and a literature review

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Oncology and Translational Medicine 2017年第1期3卷 41-46页

作者： Fengling Min Lijia Zhai Wei Zhou Xiaohui Gao Lina Zhang Department of Hematology The Affiliated Hospital of Yangzhou UniversityThe First People's HospitalYangzhou 225001China

To describe myelodysplastic syndrome(MDS)/myeloproliferative neoplasm(MPN) combined with monoclonal gammopathy of undetermined significance(MGUS) in order to investigate the potential association between these 2 diseases. Two cases of confirmed chronic myelomonocytic leukemia(CMML) combined with MGUS were reported. In addition, prior publications of cases with combined MDS or MPN with MGUS were reviewed. The first case was of a 77-year-old man whose routine blood tests showed abnormal hemogram results. The diagnosis was CMML combined with Ig M monoclonal gammopathy, and the disease course was 4 years. The CMML gradually progressed and the patient presented with anemia, thrombocytopenia, autoimmune hemolysis, and an increase in the number of immature cells in the bone marrow. Although the MGUS caused fluctuations in the concentrations of Ig M, no Ig M-associated organ damage was observed. Eventually, this patient died from a lung infection. The second case was of a 78-year-old man who sought treatment because of fever and a cough. An increase in the number of monocytes was discovered in the peripheral blood. Bone marrow smear results suggested obvious active granulocytes and an increase in the percentages of promyelocytes, myelocytes, and metamyelocytes. Unhealthy granulocytes and immature monocytes could also be observed, and the percentage of monocytes was increased. In addition, serum Ig G levels were increased, and immunofixation electrophoresis results showed Ig G-κ type M proteins. The diagnosis was CMML combined with Ig G monoclonal gammopathy. These diseases were stable and follow-up was conducted for 1 year after diagnosis. The cases in this study combined with those that were reviewed in the relevant literature indicate that the presence of these 2 diseases in the same patient might not be a coincidence. The development of the 2 diseases in case 1 was different, and we speculate that they might have had different clonal origins. Whether CMML is a risk factor for MGUS and the role of clonal plasma cells i

关键词： myeloproliferative neoplasms (MPN) myelodysplastic syndrome (MDS) monoclonal gammopathy of undetermined significance (MGUS)

Leukocytosis at Diagnosis in Patients with Essential Thrombocythemia Is a Risk Factor for Transformation into Myelofibrosis

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Open Journal of Blood Diseases 2012年第3期2卷 46-50页

作者： Irene Bertozzi Fabiana Tezza Emanuela Bonamigo Fabrizio Fabris Maria Luigia Randi Dept of Medical and Surgical Sciences University of Padua Italy

Myelofibrosis (MF) represents the major long-term complication of essential thrombocythemia (ET). There is evidence that leukocytosis at diagnosis is associated with poorer survival in patients with ET. In this study, we retrospectively evaluated 143 patients with ET, diagnosed in agreement with WHO criteria, followed in a single centre over >10 years. Nine of them transformed into MF (post-essential thrombocythemia-myelofibrosis PET-MF). We compared PET-MF data at diagnosis with that of the remaining 134 patients (ET-1) and with a selected sub-group of ET-1 (ET-2, 19 pats) sex, age and follow-up duration matched to PET-MF. The PET-MF evolution rate was 4.6 per 1000 person-years;white blood cells count (WBC) count, haemoglobin levels and hematocrit were higher in PET-MF than in ET-1 (P = 0.01) while only WBC was higher than in ET-2 (P = 0.01). With multivariate analysis, only WBC count retained its signifi-cance. Our study highlights the prognostic relevance of leukocytosis on myelofibrotic transformation of ET.

关键词： Essential Thrombocythemia Leukocytosis Post-Thrombocythemia Myelofibrosis myeloproliferative Neoplasms

Initial Analysis of Lipid Metabolomic Profile Reveals Differential Expression Features in Myeloid Malignancies

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Journal of Cancer Therapy 2015年第15期6卷 1262-1272页

作者： Adriana Ramos de Oliveira Ismael Dale Cotrim Guerreiro Da Silva Edson G. Lo Turco Helio Alves Martins Júnior Maria de Lourdes L. Ferrari Chauffaille Chauffaille Department of Clinical and Experimental Oncology Federal University of Sao Paulo Sao Paulo Brazil Gynecologic Department Federal University of Sao Paulo Sao Paulo Brazil

The purpose of this preliminary study was to determine the comparative lipid profile of blood plasma samples of healthy individuals and patients with myeloproliferative Neoplasms. Methods: Untargeted Shotgun MS/MS Analysis was performed to evaluate plasma samples from 153 participants, being 90 of the Control Group, 43 myeloproliferative Neoplasms (MPN), 11 Myelodysplastic Syndromes (MDS) and 9 Acute Myeloid Leukemias (AML). Lipids were extracted from plasma using the Bligh-Dyer protocol. Data were acquired using the AB-Sciex Analyst TF, processed using the AB-Sciex LipidViewTM and the web-based analytical pipeline MetaboAnalyst 2.0 (www.***.ca). Results: Untargeted analysis identified in negative and positive-modes a total of 658 features at 2 ppm resolution. PCA and PLS-DA analysis revealed clear discrimination among groups, in particular for AML patients. Main lipid groups differentially expressed were: Monoacylglycerols (MAG), Glucosylceramide E (GlcdE), Ethyl Esters (EE), Lysophosphatidic acid (LPA), Sulfoquinovosil diacylglycerols (SQDG), Monoglycerols (MG), Methyl Ethanolamines (ME), Lysophosphatidylcholines (LPC), Dimethyl Phosfatidyletanolamines (DMPE), Monometylphosphatidiletanolamines (MMPE), Ceramide-1-phosphate (CerP), Glicerophosphoglycerols (GP), Lysomonomethyl-Phosphatidylethanolamines (LMMPE), Phosphatidic Acids (PA), Ergosterols (ERG), Glycerophosphoserine (PS), Diacylglycerols (DAG), Hexocylceramides (HexCer) and Lanosterol (Lan). ROC Curve Analysis revealed Total LMMPE as the strongest discriminating marker between Controls from Patients. In addition, these lipids were also able to differentiate MDS and AML from NPM. Conclusions: The myeloproliferative Neoplasms from the point of view of global plasma lipidomics are accompanied by several modifications. In particular, the Lysomonomethyl-Phosphatidylethanolamines (LMMPE) seems to play important differentiating roles among them.

关键词： Lipids Lipidomics myeloproliferative Neoplasms Mass Spectrometry