Mario Cazzola

Summary

Affiliation: University of Pavia
Country: Italy

Publications

  1. ncbi request reprint Novel genes, proteins, and inherited disorders of iron overload: iron metabolism is less boring than thought
    Mario Cazzola
    Haematologica 87:115-6. 2002
  2. ncbi request reprint Erythropoietin pathophysiology and erythropoietin deficiency anemia
    Mario Cazzola
    University of Pavia Medical School, Pavia, Italy
    Hematol J 5:S100-3. 2004
  3. ncbi request reprint Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation
    Mario Cazzola
    Department of Hematology, University of Pavia Medical School, Pavia, Italy
    Blood 100:4236-8. 2002
  4. doi request reprint Myelodysplastic/myeloproliferative neoplasms
    Mario Cazzola
    Department of Hematology Oncology, University of Pavia Medical School and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Hematology Am Soc Hematol Educ Program 2011:264-72. 2011
  5. ncbi request reprint Once-weekly epoetin beta is highly effective in treating anaemic patients with lymphoproliferative malignancy and defective endogenous erythropoietin production
    Mario Cazzola
    Division of Haematology, University of Pavia Medical School, Pavia, Italy
    Br J Haematol 122:386-93. 2003
  6. ncbi request reprint Erythropoietin therapy: need for rationality and active surveillance
    Mario Cazzola
    University of Pavia Medical School, Division of Hematology, IRCCS Policlinico S Matteo, Pavia, Italy
    Haematologica 88:601-5. 2003
  7. ncbi request reprint Pyruvate kinase deficiency
    Mario Cazzola
    University of Pavia Medical School, Division of Hematology, IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Haematologica 90:1-2. 2005
  8. ncbi request reprint Can EPO reduce blood transfusion requirements during induction therapy for high-risk neuroblastoma?
    Mario Cazzola
    Department of Hematology, University of Pavia, Italy
    Nat Clin Pract Oncol 1:22-3. 2004
  9. ncbi request reprint Role of ferritin and ferroportin genes in unexplained hyperferritinaemia
    Mario Cazzola
    Department of Haematology, University of Pavia Medical School, IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Best Pract Res Clin Haematol 18:251-63. 2005
  10. ncbi request reprint Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia
    Mario Cazzola
    Department of Hematology, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico S Matteo, Pavia, Italy
    Blood 101:1996-2000. 2003

Detail Information

Publications99

  1. ncbi request reprint Novel genes, proteins, and inherited disorders of iron overload: iron metabolism is less boring than thought
    Mario Cazzola
    Haematologica 87:115-6. 2002
  2. ncbi request reprint Erythropoietin pathophysiology and erythropoietin deficiency anemia
    Mario Cazzola
    University of Pavia Medical School, Pavia, Italy
    Hematol J 5:S100-3. 2004
  3. ncbi request reprint Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation
    Mario Cazzola
    Department of Hematology, University of Pavia Medical School, Pavia, Italy
    Blood 100:4236-8. 2002
    ..This observation is relevant to genetic counseling, emphasizing the importance of gene-based diagnosis...
  4. doi request reprint Myelodysplastic/myeloproliferative neoplasms
    Mario Cazzola
    Department of Hematology Oncology, University of Pavia Medical School and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Hematology Am Soc Hematol Educ Program 2011:264-72. 2011
    ..It is hoped that these advances will soon translate into improved therapeutic approaches...
  5. ncbi request reprint Once-weekly epoetin beta is highly effective in treating anaemic patients with lymphoproliferative malignancy and defective endogenous erythropoietin production
    Mario Cazzola
    Division of Haematology, University of Pavia Medical School, Pavia, Italy
    Br J Haematol 122:386-93. 2003
    ..Tailoring this treatment modality to subjects with defective endogenous Epo production represents a rational use of epoetin from both a medical and a community perspective...
  6. ncbi request reprint Erythropoietin therapy: need for rationality and active surveillance
    Mario Cazzola
    University of Pavia Medical School, Division of Hematology, IRCCS Policlinico S Matteo, Pavia, Italy
    Haematologica 88:601-5. 2003
  7. ncbi request reprint Pyruvate kinase deficiency
    Mario Cazzola
    University of Pavia Medical School, Division of Hematology, IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Haematologica 90:1-2. 2005
  8. ncbi request reprint Can EPO reduce blood transfusion requirements during induction therapy for high-risk neuroblastoma?
    Mario Cazzola
    Department of Hematology, University of Pavia, Italy
    Nat Clin Pract Oncol 1:22-3. 2004
  9. ncbi request reprint Role of ferritin and ferroportin genes in unexplained hyperferritinaemia
    Mario Cazzola
    Department of Haematology, University of Pavia Medical School, IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Best Pract Res Clin Haematol 18:251-63. 2005
    ..These genetic disorders should be taken into account in the differential diagnosis of unexplained hyperferritinaemia...
  10. ncbi request reprint Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia
    Mario Cazzola
    Department of Hematology, University of Pavia Medical School and Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico S Matteo, Pavia, Italy
    Blood 101:1996-2000. 2003
    ..These findings suggest that most of the iron deposited in perinuclear mitochondria of ring sideroblasts is present in the form of MtF and that this latter might be a specific marker of sideroblastic anemia...
  11. ncbi request reprint Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
    Mario Cazzola
    Division of Haematology, University of Pavia Medical School, IRCCS Policlinico S Matteo, Pavia, Italy
    Br J Haematol 119:539-46. 2002
    ..Heterozygosity for the ferroportin Val 162 deletion represents the prototype of selective reticuloendothelial iron overload, and should be taken into account in the differential diagnosis of hereditary or congenital hyperferritinaemias...
  12. doi request reprint Classification and prognostic evaluation of myelodysplastic syndromes
    Mario Cazzola
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo and University of Pavia Medical School, Italy
    Semin Oncol 38:627-34. 2011
    ..Since comorbidities have a significant impact on the outcome of patients with MDS, accounting for both disease status and comorbid conditions considerably improves risk stratification...
  13. doi request reprint Prognostic classification and risk assessment in myelodysplastic syndromes
    Mario Cazzola
    Department of Hematology Oncology, Medical School, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Hematol Oncol Clin North Am 24:459-68. 2010
    ..WPSS predicts survival and leukemia progression at any time during follow-up, and may therefore be used for implementing risk-adapted treatment strategies...
  14. ncbi request reprint Bone marrow microvessel density in chronic myeloproliferative disorders: a study of 115 patients with clinicopathological and molecular correlations
    Emanuela Boveri
    Department of Surgical Pathology, University of Pavia Medical School, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Br J Haematol 140:162-8. 2008
    ..003), and anaemia (P < 0.001) independently correlated with MVD. In summary, this study indicates that assessment of BM angiogenesis, as measured by MVD, may be a useful additional tool in the histopathological definition of CMD...
  15. pmc Impact of the degree of anemia on the outcome of patients with myelodysplastic syndrome and its integration into the WHO classification-based Prognostic Scoring System (WPSS)
    Luca Malcovati
    Department of Hematology Oncology, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Haematologica 96:1433-40. 2011
    ..We, therefore, studied the relationship between severity of anemia and outcome in myelodysplastic syndrome patients...
  16. doi request reprint A dynamic prognostic model to predict survival in post-polycythemia vera myelofibrosis
    Francesco Passamonti
    Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, University of Pavia, Italy
    Blood 111:3383-7. 2008
    ..In conclusion, leukocytosis at diagnosis of PV is a risk factor for evolution in post-PV MF. A dynamic score based on hemoglobin level, and platelet and leukocyte count predicts survival at any time from diagnosis of post-PV MF...
  17. ncbi request reprint JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders
    Elisa Rumi
    Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo and University of Pavia School of Medicine, Pavia, Italy
    Cancer 107:2206-11. 2006
    ..The authors studied the biologic significance of the JAK2 (V617F) mutation in familial myeloproliferative disorders...
  18. doi request reprint Blast phase of essential thrombocythemia: A single center study
    Francesco Passamonti
    Division of Hematology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Am J Hematol 84:641-4. 2009
    ..JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. The outcome of patients is poor whatever the treatment used...
  19. pmc Risk stratification based on both disease status and extra-hematologic comorbidities in patients with myelodysplastic syndrome
    Matteo G Della Porta
    Department of Hematology Oncology, University of Pavia Medical School and Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Haematologica 96:441-9. 2011
    ..Accounting for both disease status by means of the WPSS and comorbidity through the MDS-CI considerably improves risk stratification in myelodysplastic syndromes...
  20. ncbi request reprint Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation
    Elisa Rumi
    Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Viale Golgi 49, 27100 Pavia, Italy
    J Clin Oncol 25:5630-5. 2007
    ..However, familial clustering is reported. The purpose of this study was to assess the prevalence and the clinical phenotype of familial CMDs, and to study the anticipation of disease onset in successive generations...
  21. doi request reprint Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis
    Luca Malcovati
    Department of Hematology Oncology, University of Pavia and Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico IRCCS, Policlinico San Matteo, Pavia, Italy
    Blood 114:3538-45. 2009
    ....
  22. doi request reprint Clinical relevance of bone marrow fibrosis and CD34-positive cell clusters in primary myelodysplastic syndromes
    Matteo Giovanni Della Porta
    Department of Hematology, University of Pavia Medical School, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    J Clin Oncol 27:754-62. 2009
    ..We studied bone marrow (BM) histologic abnormalities in myelodysplastic syndromes (MDS) classified according to WHO criteria to determine their clinical correlates and prognostic value...
  23. ncbi request reprint Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders
    Francesco Passamonti
    Department of Hematology, IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Blood 107:3676-82. 2006
    ..This exemplifies a novel paradigm in which a somatic gain-of-function mutation is initially responsible for clonal expansion of hematopoietic cells and later for their abnormal trafficking via an activated cell progeny...
  24. ncbi request reprint Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia
    Francesco Passamonti
    Division of Hematology, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Am J Med 117:755-61. 2004
    ..To assess life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia...
  25. ncbi request reprint Survivin expression, apoptosis and proliferation in chronic myelomonocytic leukemia
    Rosangela Invernizzi
    Institute of Internal Medicine and Medical Oncology, University of Pavia, IRCCS Policlinico S Matteo, Pavia, Italy
    Eur J Haematol 76:494-501. 2006
    ..The detection of survivin-deregulated expression may provide a useful tool for diagnosis, prognosis and a possible target for experimental treatments...
  26. doi request reprint Identification of genomic aberrations associated with disease transformation by means of high-resolution SNP array analysis in patients with myeloproliferative neoplasm
    Elisa Rumi
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Am J Hematol 86:974-9. 2011
    ....
  27. doi request reprint Effects of mitochondrial ferritin overexpression in normal and sideroblastic erythroid progenitors
    Rosangela Invernizzi
    Department of Internal Medicine, University of Pavia Medical School and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Br J Haematol 161:726-37. 2013
    ..In conclusion, experimental overexpression of FTMT may modify mitochondrial iron availability and lead to ineffective erythropoiesis...
  28. ncbi request reprint Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making
    Luca Malcovati
    Division of Hematology, IRCCS, Policlinico San Matteo, 27100 Pavia, Italy
    J Clin Oncol 23:7594-603. 2005
    ....
  29. pmc Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms
    Elisa Rumi
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Blood 121:4388-95. 2013
    ..These observations suggest that acquired CN-LOH of chromosome 1p involving the MPL location may represent a molecular mechanism of fibrotic transformation in MPL-mutated myeloproliferative neoplasms...
  30. ncbi request reprint Biological and clinical relevance of matrix metalloproteinases 2 and 9 in acute myeloid leukaemias and myelodysplastic syndromes
    Erica Travaglino
    Department of Internal Medicine, University of Pavia, Fondazione IRCCS Policlinico S Matteo, Pavia, Italy
    Eur J Haematol 80:216-26. 2008
    ..In MDS, the detection of MMP deregulated expression may be important also from the clinical point of view: it may provide a useful tool for diagnosis, prognosis and a possible target for experimental treatments...
  31. pmc Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1
    Ilaria Ambaglio
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Haematologica 98:420-3. 2013
    ..013). These observations suggest that patients with SF3B1 mutation have inappropriately low hepcidin levels, which may explain their propensity to parenchymal iron loading...
  32. pmc Good clinical activity and favorable toxicity profile of once weekly bortezomib, fotemustine, and dexamethasone (B-MuD) for the treatment of relapsed multiple myeloma
    Silvia Mangiacavalli
    Division of Hematology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Am J Hematol 88:102-6. 2013
    ..87) when compared to bortezomib-naive patients. Thrombocytopenia was the most common AE overall. In conclusion, B-MuD is an effective and well tolerated combination in relapsed MM patients even in advanced disease phase...
  33. ncbi request reprint Clinical utility of the absolute number of circulating CD34-positive cells in patients with chronic myeloproliferative disorders
    Francesco Passamonti
    Division of Hematology, University of Pavia Medical School and IRCCS Policlinico S Matteo, Pavia, Italy
    Haematologica 88:1123-9. 2003
    ....
  34. ncbi request reprint Long-term follow-up of young patients with essential thrombocythemia treated with pipobroman
    Francesco Passamonti
    Division of Hematology, IRCCS Policlinico San Matteo, University of Pavia, Viale Golgi 19, Pavia, Italy
    Ann Hematol 83:495-7. 2004
  35. ncbi request reprint Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes
    Luca Malcovati
    Department of Hematology, University of Pavia, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, 27100 Pavia, Italy
    J Clin Oncol 25:3503-10. 2007
    ....
  36. doi request reprint A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment)
    Francesco Passamonti
    Department of Hematology Oncology, University of Pavia and Fondazione, Istituto di Ricovero e Cura a Carattere Scientifico, Policlinico San Matteo, Pavia, Italy
    Blood 115:1703-8. 2010
    ..81 for intermediate-2 according to the age-adjusted DIPSS. The novelty of these models is the prognostic assessment of patients with PMF anytime during their clinical course, which may be useful for treatment decision-making...
  37. doi request reprint Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms
    Marzia Varettoni
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Blood 121:2522-8. 2013
    ..In this latter condition, MYD88 (L265P) is associated with greater disease burden and higher risk of disease progression, and the mutation may therefore also represent a useful prognostic marker...
  38. ncbi request reprint Leukemic transformation of polycythemia vera: a single center study of 23 patients
    Francesco Passamonti
    Division of Hematology, IRCCS San Matteo Polyclinic, University of Pavia, Pavia, Italy
    Cancer 104:1032-6. 2005
    ..Acute leukemia (AL) may occur as rare and late event of polycythemia vera (PV)...
  39. doi request reprint Monoclonal gammopathy of undetermined significance: a new proposal of workup
    Silvia Mangiacavalli
    Division of Hematology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Eur J Haematol 91:356-60. 2013
    ..5 g/dL). Aim of this study is to better quantify the risk of missing a diagnosis of MM, not performing bone marrow aspirate and skeletal survey in patients with M-spike ≤ 1.5 g/dL asymptomatic for bone pain...
  40. ncbi request reprint Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2 (617V>F) mutation
    Francesco Passamonti
    Department of Hematology, University of Pavia Medical School, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo, Pavia, Italy
    Blood 110:485-9. 2007
    ..A relationship was found between JAK2 (617V>F) and fetal loss (P = .05). This study indicates that patients carrying the JAK2 (617V>F) mutation have higher risk of developing pregnancy complications...
  41. pmc Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms
    Luca Malcovati
    Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo and University of Pavia, Pavia, Italy
    Blood 118:6239-46. 2011
    ..Furthermore, SF3B1 mutations are independent predictors of favorable clinical outcome, and their incorporation into stratification systems might improve risk assessment in MDS...
  42. ncbi request reprint Dyspnea secondary to pulmonary hematopoiesis as presenting symptom of myelofibrosis with myeloid metaplasia
    Elisa Rumi
    Division of Hematology, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Am J Hematol 81:124-7. 2006
    ..This case points to the importance of suspecting pulmonary EMH when unexplained progressive dyspnea occurs in a patient with MMM. Early recognition of pulmonary EMH may prevent PH and favor a better response to therapy...
  43. pmc Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms
    Daniela Pietra
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
    Haematologica 96:607-11. 2011
    ..In 3 cases carrying double MPL mutations, deep sequencing analysis showed identical load and location in cis of the paired lesions, indicating their simultaneous occurrence on the same chromosome...
  44. pmc High frequency of endothelial colony forming cells marks a non-active myeloproliferative neoplasm with high risk of splanchnic vein thrombosis
    Vittorio Rosti
    Unit of Clinical Epidemiology and Center for the Study of Myelofibrosis, IRCCS Policlinico S Matteo Foundation, Pavia, Italy
    PLoS ONE 5:e15277. 2010
    ..Due to inherent performance limitations of ECFCs assay, there is an urgent need to arrive to an acceptable standardization of ECFC assessment...
  45. doi request reprint Clues to pathogenesis of Waldenström macroglobulinemia and immunoglobulin M monoclonal gammopathy of undetermined significance provided by analysis of immunoglobulin heavy chain gene rearrangement and clustering of B-cell receptors
    Marzia Varettoni
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Leuk Lymphoma 54:2485-9. 2013
    ..WM and IgM-MGUS-specific HCDR3 clusters do not occur with a frequency detectable with currently available databases, not supporting a B-cell receptor-driven pathogenesis in WM and IgM-MGUS...
  46. doi request reprint A prognostic model to predict survival in 867 World Health Organization-defined essential thrombocythemia at diagnosis: a study by the International Working Group on Myelofibrosis Research and Treatment
    Francesco Passamonti
    Division of Hematology, Department of Internal Medicine, University Hospital Ospedale di Circolo e Fondazione Macchi, Varese, Italy
    Blood 120:1197-201. 2012
    ....
  47. ncbi request reprint Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders
    Daniela Pietra
    Department of Hematology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy
    Blood 111:1686-9. 2008
    ..Moreover, a genetic predisposition to acquisition of different JAK2 mutations is inherited in families with myeloproliferative disorders...
  48. ncbi request reprint Clinical significance of neutrophil CD177 mRNA expression in Ph-negative chronic myeloproliferative disorders
    Francesco Passamonti
    Division of Haematology, University of Pavia Medical School and IRCCS Policlinico S Matteo, 27100 Pavia, Italy
    Br J Haematol 126:650-6. 2004
    ..From a clinical viewpoint, neutrophil CD177 mRNA overexpression is rather a marker of abnormal neutrophil production and/or release in patients with CMD...
  49. ncbi request reprint Ferroportin gene silencing induces iron retention and enhances ferritin synthesis in human macrophages
    Anna Galli
    Division of Haematology, University of Pavia Medical School and IRCCS Policlinico S Matteo, 27100 Pavia, Italy
    Br J Haematol 127:598-603. 2004
    ..Second, this observation supports the hypothesis that reticuloendothelial iron overload in patients with ferroportin disease is caused by loss-of-function mutations in the SLC11A3 gene that mainly impair macrophage iron recycling...
  50. doi request reprint Response-adjusted ISS (RaISS) is a simple and reliable prognostic scoring system for predicting progression-free survival in transplanted patients with multiple myeloma
    Alessandro Corso
    Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Universita di Pavia, Pavia, Italy
    Am J Hematol 87:150-4. 2012
    ..In conclusion, RaISS is a new simple and easily available scoring system that, accurately defining the risk of progression, can allow to identify patients who could deserve further treatment after transplant (consolidation, maintenance)...
  51. ncbi request reprint Survivin expression in acute leukemias and myelodysplastic syndromes
    Rosangela Invernizzi
    Internal Medicine and Medical Oncology, University of Pavia, IRCCS Policlinico S Matteo, Pavia, Italy
    Leuk Lymphoma 45:2229-37. 2004
    ..Its abnormal expression also in MDS may play a role in promoting aberrantly increased cell viability and contribute to the altered homeostatic balance between cell growth and cell death...
  52. doi request reprint Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations
    Francesco Passamonti
    Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Blood 117:2813-6. 2011
    ..These findings suggest that, despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PV is similar to that of JAK2 (V617F)-positive PV...
  53. doi request reprint Associated cancers in Waldenström macroglobulinemia: clues for common genetic predisposition
    Enrica Morra
    Division of Hematology, Niguarda Ca Granda Hospital, Milano, Italy
    Clin Lymphoma Myeloma Leuk 13:700-3. 2013
    ..The cause of second cancers in LPDs is probably multifactorial, and the relative contribution of treatments, genetic predisposition, and immune dysfunction typical of LPDs is still unclear...
  54. pmc Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies
    Francesco Passamonti
    Division of Hematology, Department of Internal Medicine, Ospedale di Circolo e Fondazione Macchi, Varese, Italy
    Oncotarget 2:485-90. 2011
    ..On the other hand, JAK inhibitors have not thus far shown disease-modifying activity therefore any other deduction on these new drugs seems premature...
  55. pmc Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms
    Mario Cazzola
    Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy
    Blood 121:260-9. 2013
    ..The assessment of SF3B1 mutation status may become innovative diagnostic and prognostic tools and the availability of spliceosome modulators opens novel therapeutic prospects...
  56. ncbi request reprint Blunted erythropoietin production and defective iron supply for erythropoiesis as major causes of anaemia in patients with chronic heart failure
    Cristina Opasich
    Department of Cardiology, Institute of Pavia, IRCCS Fondazione Salvatore Maugeri, Strada Ferrata 8, 27100 Pavia, Italy
    Eur Heart J 26:2232-7. 2005
    ..Anaemia is often observed in patients with chronic heart failure (CHF), and it may be associated with a worse prognosis. Aim of this study was to identify the individual mechanisms of anaemia in CHF patients...
  57. ncbi request reprint A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome
    Mario Cazzola
    Division of Haematology, University of Pavia Medical School, IRCCS Policlinico S Matteo, 27100 Pavia, Italy
    Br J Haematol 116:667-70. 2002
    ..A double-gradient denaturing gradient gel electrophoresis (DG-DGGE) method easily detected the above deletion...
  58. ncbi request reprint Hematologic passport for athletes competing in endurance sports: a feasibility study
    Luca Malcovati
    Division of Hematology, University of Pavia Medical School and IRCCS Policlinico S Matteo, Pavia, Italy
    Haematologica 88:570-81. 2003
    ....
  59. doi request reprint Detection of TET2 abnormalities by fluorescence in situ hybridization in 41 patients with myelodysplastic syndrome
    Irene Dambruoso
    Division of Hematology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Italy
    Cancer Genet 205:285-94. 2012
    ....
  60. doi request reprint The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms
    Luca Arcaini
    Departments of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo and University of Pavia, Pavia, Italy
    Blood 119:188-91. 2012
    ..We conclude that the BRAF V600E mutation is present in all patients with HCL and that, in combination with clinical and morphologic features, represents a reliable molecular marker for this condition...
  61. ncbi request reprint Towards a rational treatment of essential thrombocythemia, despite limited evidence and old prejudices
    Mario Cazzola
    University of Pavia Medical School, Division of Hematology, IRCCS Policlinico S Matteo, 27100 Pavia, Italy mario it
    Haematologica 89:137-8. 2004
  62. pmc The genetic basis of myelodysplasia and its clinical relevance
    Mario Cazzola
    Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy and
    Blood 122:4021-34. 2013
    ..Although both founding and subclonal driver mutations have been shown to have prognostic significance, prospective clinical trials that include the molecular characterization of the patient's genome are now needed. ..
  63. ncbi request reprint Myelodysplastic syndromes--coping with ineffective hematopoiesis
    Mario Cazzola
    University of Pavia Medical School, Pavia, Italy
    N Engl J Med 352:536-8. 2005
  64. ncbi request reprint Evidence- and consensus-based practice guidelines for the therapy of primary myelodysplastic syndromes. A statement from the Italian Society of Hematology
    Emilio Paolo Alessandrino
    Divisione di Ematologia, IRCCS Policlinico S Matteo, Pavia, Italy
    Haematologica 87:1286-306. 2002
    ..The Italian Society of Hematology commissioned a project to develop guidelines for the therapy of MDS using evidence-based knowledge and consensus-formation techniques...
  65. ncbi request reprint Hereditary hyperferritinaemia/ cataract syndrome
    Mario Cazzola
    Department of Hematology, University of Pavia Medical School, IRCCS Policlinico S Matteo, Piazzale Golgi 2, 27100 Pavia, Italy
    Best Pract Res Clin Haematol 15:385-98. 2002
    ..This exemplifies a new paradigm in which mutations in mRNA cis-acting elements may be responsible for phenotypic variability in disease states...
  66. ncbi request reprint Pipobroman is safe and effective treatment for patients with essential thrombocythaemia at high risk of thrombosis
    Francesco Passamonti
    Division of Hematology, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
    Br J Haematol 116:855-61. 2002
    ..The low cumulative 10-year risk of thrombosis, leukaemia and solid tumours indicates that pipobroman is an adequate treatment for patients with high risk ET...
  67. ncbi request reprint Aberrant mitochondrial iron distribution and maturation arrest characterize early erythroid precursors in low-risk myelodysplastic syndromes
    Ramin Tehranchi
    Department of Medicine, Division of Hematology, Karolinska Institutet, Karolinska University Hospital Huddinge, S 141 86 Stockholm, Sweden
    Blood 106:247-53. 2005
    ..In conclusion, aberrant MtF expression in RARS erythroblasts occurs at a very early stage of erythroid differentiation and is paralleled by an up-regulation of genes involved in this process...
  68. ncbi request reprint [Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")]
    José Antonio García Erce
    Servicio de Hematologia y Hemoterapia, Hospital Miguel Servet, P Isabel La Católica 1 3, 50009 Zaragoza, Spain
    Med Clin (Barc) 127:55-8. 2006
    ..This HHCS is associated with mutations in the gene of ferritin subunit L, located in chromosome 19. We describe 2 new families with HHCS, one of them presenting a new L-ferritin mutation (A37T: -Zaragoza-)...
  69. ncbi request reprint Genetic disorders of iron overload and the novel "ferroportin disease"
    Mario Cazzola
    Haematologica 88:721-4. 2003
  70. ncbi request reprint Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    Carmela Lanzara
    Dipartimento di Patologia Generale, II Universita di Napoli, Italy
    Blood 103:4317-21. 2004
    ..Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function...
  71. ncbi request reprint Genetic and clinical heterogeneity of ferroportin disease
    L Cremonesi
    Unit of Genomics for the Diagnosis of Human Pathologies, IRCCS H San Raffaele, Milan, Italy
    Br J Haematol 131:663-70. 2005
    ..This condition should be considered not only in families with autosomal iron overload or hyperferritinaemia, but also in cases of unexplained hyperferritinaemia...
  72. ncbi request reprint HLA typing and VH gene rearrangement analysis in a family with hairy cell leukaemia
    Elisa Rumi
    Leuk Lymphoma 48:805-7. 2007
  73. ncbi request reprint Mitochondrial ferritin: a new player in iron metabolism
    Jim Drysdale
    Department of Biochemistry, Tufts University School of Medicine, 136 Harrison Avenue, Boston, MA 02111, USA
    Blood Cells Mol Dis 29:376-83. 2002
    ..The regulation of MtF expression and possible therapeutic applications of MtF in neurological disorders involving increased iron deposition are topics for future research...
  74. doi request reprint Erythropoietin and granulocyte-colony stimulating factor treatment associated with improved survival in myelodysplastic syndrome
    Martin Jadersten
    Karolinska Institutet, Department of Medicine, Division of Hematology, Stockholm, Sweden
    J Clin Oncol 26:3607-13. 2008
    ..To assess the effect of erythropoietin (EPO) plus granulocyte-colony stimulating factor (G-CSF) treatment on survival and leukemic transformation in myelodysplastic syndrome (MDS)...
  75. ncbi request reprint Gene expression profiling of CD34+ cells in patients with the 5q- syndrome
    Jacqueline Boultwood
    LRF Molecular Haematology Unit, NDCLS, John Radcliffe Hospital, Oxford, UK
    Br J Haematol 139:578-89. 2007
    ..This study suggests that several of the genes mapping to the CDR of the 5q- syndrome play a role in the pathogenesis of this disorder...
  76. ncbi request reprint Natural history of juvenile haemochromatosis
    Marco De Gobbi
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
    Br J Haematol 117:973-9. 2002
    ..Our results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis-associated genes...
  77. doi request reprint Myelodysplastic/myeloproliferative disorders
    Luca Malcovati
    Haematologica 93:4-6. 2008
  78. ncbi request reprint Further concerns about the medical risks of blood doping
    Mario Cazzola
    Haematologica 87:232. 2002
  79. pmc Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study
    John Porter
    University College London, London, UK
    Eur J Haematol 80:168-76. 2008
    ..Dosage was determined by baseline liver iron concentration (LIC)...
  80. ncbi request reprint Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)
    Antonella Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Turin, Italy
    Blood 103:2407-9. 2004
    ..We identified a new mutation (C70R), which affects 1 of the 8 conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide...
  81. ncbi request reprint Practice guidelines for the therapy of primary myelodysplastic syndromes: a word of caution about their translation into clinical practice
    Mario Cazzola
    Haematologica 87:1240-1. 2002
  82. ncbi request reprint Novelties in the field of antimicrobial compounds for the treatment of lower respiratory tract infections
    Mario Cazzola
    Department of Respiratory Medicine, Unit of Pneumology and Allergology, A Cardarelli Hospital, Via del Parco Margherita 24, 80121 Naples, Italy
    Pulm Pharmacol Ther 16:131-45. 2003
    ..Obviously, these antibiotics must be reserved only to cases of documented ineffectiveness of the common antimicrobial agents...
  83. ncbi request reprint Comparative effects of a two-week treatment with nebivolol and nifedipine in hypertensive patients suffering from COPD
    Mario Cazzola
    Unit of Pneumology and Allergology, Department of Pneumology, A Cardarelli Hospital, Naples, Italy
    Respiration 71:159-64. 2004
    ....
  84. ncbi request reprint The additive effect of theophylline on a combination of formoterol and tiotropium in stable COPD: a pilot study
    Mario Cazzola
    Department of Respiratory Medicine, Unit of Pneumology and Allergology, A Cardarelli Hospital, Naples, Italy
    Respir Med 101:957-62. 2007
    ....
  85. ncbi request reprint Effect of formoterol, tiotropium, and their combination in patients with acute exacerbation of chronic obstructive pulmonary disease: a pilot study
    Fabiano Di Marco
    Respiratory Medicine Unit, University of Milan, Ospedale San Paolo, Milano, Italy
    Respir Med 100:1925-32. 2006
    ....
  86. ncbi request reprint Somatic mutations of JAK2 exon 12 as a molecular basis of erythrocytosis
    Mario Cazzola
    Haematologica 92:1585-9. 2007
  87. ncbi request reprint Gene expression profiles of CD34+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype
    Andrea Pellagatti
    Leukaemia Research Fund LRF Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Sciences NDCLS, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom
    Blood 108:337-45. 2006
    ..This study provides important and new insights into the pathophysiology of MDS...
  88. ncbi request reprint Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism
    Francesca Ferrari
    Unit of Genomics for Diagnosis of Human Pathologies, IRCCS H San Raffaele, Milan, Italy
    Hum Mutat 27:201-8. 2006
    ..This pilot study represents a first step toward developing a diagnostic microchip for large-scale analyses for epidemiological studies and screening of mutations associated with iron disorders...
  89. pmc The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts
    Jacqueline Boultwood
    LRF Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Sciences, John Radcliffe Hospital, Oxford, United Kingdom
    PLoS ONE 3:e1970. 2008
    ..These data provide an important link between inherited and acquired forms of sideroblastic anemia and indicate that ABCB7 is a strong candidate gene for RARS...
  90. doi request reprint Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders
    Emanuele Angelucci
    Hematology Department and BMT Unit, Cancer Center Armando Businco, viale Edward Jenner, 09121 Cagliari, Italy
    Haematologica 93:741-52. 2008
    ....
  91. doi request reprint Prognostic relevance of anemia in myelodysplastic syndromes
    Mario Cazzola
    Am J Hematol 83:761-2. 2008
  92. doi request reprint Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts
    Ghulam J Mufti
    Department of Haematology, King s College Hospital, Denmark Hill, London, SE5 9RS United Kingdom
    Haematologica 93:1712-7. 2008
    ..Recommendations should be applied in the context of the WHO classification...
  93. ncbi request reprint Respiratory infections and asthma
    Girolamo Pelaia
    Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Italy
    Respir Med 100:775-84. 2006
    ..All these microbial agents probably interfere with complex immunological pathways, thus contributing to induce and exacerbate asthma in genetically predisposed individuals...
  94. ncbi request reprint Pharmacodynamics of levofloxacin in patients with acute exacerbation of chronic bronchitis
    Mario Cazzola
    Department of Pneumology, Unit of Pneumology and Allergology, A Cardarelli Hospital, Naples, Italy
    Chest 128:2093-8. 2005
    ....
  95. ncbi request reprint Ultra long-acting beta 2-agonists in development for asthma and chronic obstructive pulmonary disease
    Mario Cazzola
    Department of Respiratory Medicine, A Cardarelli Hospital, Via del Parco Margherita 24, 80121 Naples, Italy
    Expert Opin Investig Drugs 14:775-83. 2005
    ..The only limits set for the development of a LABA with a new product profile are medical needs and marketing opportunities...
  96. ncbi request reprint A gain-of-function mutation of JAK2 in myeloproliferative disorders
    Robert Kralovics
    Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland
    N Engl J Med 352:1779-90. 2005
    ..The loss of heterozygosity (LOH) on the short arm of chromosome 9 (9pLOH) in myeloproliferative disorders suggests that 9p harbors a mutation that contributes to the cause of clonal expansion of hematopoietic cells in these diseases...
  97. ncbi request reprint Bronchodilator response to formoterol after regular tiotropium or to tiotropium after regular formoterol in COPD patients
    Mario Cazzola
    Antonio Cardarelli Hospital, Department of Respiratory Medicine, Unit of Pneumology and Allergology, Naples, Italy
    Respir Med 99:524-8. 2005
    ..Differences between the two treatments were not statistically significant (P>0.05). The addition of second different long-acting bronchodilator to a regularly administered long-acting bronchodilator seems to be to patient's advantage...
  98. ncbi request reprint Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients
    Renzo Galanello
    Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Microcitemico, University of Cagliari, 09121 Cagliari, Italy
    Br J Haematol 127:604-6. 2004
    ..This confirms that, in heterozygous individuals, beta-thalassaemia intermedia may be caused by inactivation of the beta-locus in trans as a result of chromosome 11p15.5 deletions in a subpopulation of haematopoietic cells...
  99. ncbi request reprint Predicting survival and leukemic evolution in patients with myelodysplastic syndrome
    Luca Malcovati
    Haematologica 91:1588-90. 2006