Genomes and Genes
Affiliation: Mayo Clinic
- Tefferi A, Guglielmelli P, Nicolosi M, Mannelli F, Mudireddy M, Bartalucci N, et al. GIPSS: genetically inspired prognostic scoring system for primary myelofibrosis. Leukemia. 2018;32:1631-1642 pubmed publisher..GIPPS offers a low-complexity prognostic tool for PMF that is solely dependent on genetic risk factors and, thus, forward-looking in its essence. ..
- Gangat N, Patnaik M, Begna K, Kourelis T, Al Kali A, Elliott M, et al. Primary Myelodysplastic Syndromes: The Mayo Clinic Experience With 1000 Patients. Mayo Clin Proc. 2015;90:1623-38 pubmed publisher..Current risk stratification systems for MDS are not substantially different from each other. There is a dire need for drugs that are truly disease modifying and risk models that incorporate prognostically relevant mutations. ..
- Tefferi A. Polycythemia vera and essential thrombocythemia: 2012 update on diagnosis, risk stratification, and management. Am J Hematol. 2012;87:285-93 pubmed publisher..Treatment with busulfan or interferon-? is usually effective in hydroxyurea failures. Screening for clinically significant AvWS is recommended before administrating aspirin in the presence of extreme thrombocytosis. ..
- Tefferi A, Thiele J, Vardiman J. The 2008 World Health Organization classification system for myeloproliferative neoplasms: order out of chaos. Cancer. 2009;115:3842-7 pubmed publisher..The revised WHO document continues to promote the recognition of histologic categories as a necessary first step toward the genetic characterization of myeloid malignancies. ..
- Tefferi A, Mesa R, Gray L, Steensma D, Camoriano J, Elliott M, et al. Phase 2 trial of imatinib mesylate in myelofibrosis with myeloid metaplasia. Blood. 2002;99:3854-6 pubmed..In vitro, imatinib mesylate caused variable degrees of growth suppression of myeloid and erythroid progenitors that unfortunately did not translate into clinical benefit. ..
- Tefferi A, Pardanani A. Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests. Mayo Clin Proc. 2007;82:599-604 pubmed
- Tefferi A, Gilliland D. JAK2 in myeloproliferative disorders is not just another kinase. Cell Cycle. 2005;4:1053-6 pubmed..Taken together, these observations suggest that JAK2(V617F) is an acquired myeloid lineage-specific mutation that engenders a pathogenetic relevance for the PV phenotype in MPD. ..
- Tefferi A. Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management. Am J Hematol. 2013;88:141-50 pubmed publisher..Splenectomy and low-dose radiotherapy are used for drug-refractory splenomegaly. Radiotherapy is also used for the treatment of non-hepatosplenic EMH, PMF-associated pulmonary hypertension, and extremity bone pain. ..
- Tefferi A, Lasho T, Jimma T, Finke C, Gangat N, Vaidya R, et al. One thousand patients with primary myelofibrosis: the mayo clinic experience. Mayo Clin Proc. 2012;87:25-33 pubmed publisher..The current document should serve as a valuable resource for patients and physicians and provides context for the design and interpretation of clinical trials. ..
- Tefferi A, Pardanani A. JAK inhibitors in myeloproliferative neoplasms: rationale, current data and perspective. Blood Rev. 2011;25:229-37 pubmed publisher..It is our impression that many more JAK inhibitors need to be evaluated in order to identify the best-in-class in terms of efficacy, toxicity and suitability for future combination treatment programs. ..
- Tefferi A, Lasho T, Patnaik M, Finke C, Hussein K, Hogan W, et al. JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival. Leukemia. 2010;24:105-9 pubmed publisher..Allelic distortion from acquired uniparental disomy contributes to the appearance of a more pronounced effect on disease susceptibility in VF-positive patients, when studying clonally affected tissue. ..
- Tefferi A, Gangat N, Wolanskyj A, Schwager S, Pardanani A, Lasho T, et al. 20+ yr without leukemic or fibrotic transformation in essential thrombocythemia or polycythemia vera: predictors at diagnosis. Eur J Haematol. 2008;80:386-90 pubmed publisher..02). The current study identifies PV patients with leukocytosis and ET patients with anemia as the most likely to undergo leukemic or fibrotic transformation. ..
- Tefferi A, Pardanani A. Mutation screening for JAK2V617F: when to order the test and how to interpret the results. Leuk Res. 2006;30:739-44 pubmed..Therefore, mutation screening for JAK2V617F can be considered as a myeloid-specific clonality assay and it is diagnostically most useful in the evaluation of "polycythemia". ..
- Tefferi A. Modern diagnosis and treatment of primary eosinophilia. Acta Haematol. 2005;114:52-60 pubmed..Allogeneic transplantation offers a viable treatment option for drug-refractory cases. ..
- Tefferi A, Barraco D, Lasho T, Shah S, Begna K, Al Kali A, et al. Momelotinib therapy for myelofibrosis: a 7-year follow-up. Blood Cancer J. 2018;8:29 pubmed publisher..9, 95% CI 1.9-32.1), and circulating blasts ?2% (HR 3.9, 95% CI 1.4-11.0) predicted leukemic transformation. Post-MMB survival (median 3.2 years) was not significantly different than that of a risk-matched MF cohort not receiving MMB. ..
- Tefferi A, Nicolosi M, Mudireddy M, Lasho T, Gangat N, Begna K, et al. Revised cytogenetic risk stratification in primary myelofibrosis: analysis based on 1002 informative patients. Leukemia. 2018;32:1189-1199 pubmed publisher..The current study clarifies the prognostic hierarchy of genetic risk factors in PMF and provides a more refined three-tiered cytogenetic risk model. ..
- Tefferi A, Dingli D, Li C, Mesa R. Microcytosis in agnogenic myeloid metaplasia: prevalence and clinical correlates. Leuk Res. 2006;30:677-80 pubmed..In the current study, we show that microcytosis is a frequent laboratory feature in agnogenic myeloid metaplasia and investigate its clinical relevance in the particular setting. ..
- Tefferi A, Spivak J. Polycythemia vera: scientific advances and current practice. Semin Hematol. 2005;42:206-20 pubmed..Despite recent progress in the field, several important issues remain controversial. In this review, we will present the areas of agreement, but also point out where the authors' personal viewpoints differ. ..
- ..I discuss these treatment approaches in the context of who should get what and when. ..
- Tefferi A, Barbui T. Essential Thrombocythemia and Polycythemia Vera: Focus on Clinical Practice. Mayo Clin Proc. 2015;90:1283-93 pubmed publisher..We do not use ruxolitinib in patients with PV unless they have severe pruritus or symptomatic splenomegaly that is proved to be refractory to hydroxyurea, interferon alfa, and busulfan. ..
- Tefferi A, Pardanani A. Clinical, genetic, and therapeutic insights into systemic mast cell disease. Curr Opin Hematol. 2004;11:58-64 pubmed..A partial molecular classification of mast cell disease is now possible; Asp816Val c-kit+, FIP1L1-PDGFRA+, and molecularly undefined cases. Such molecular classification is therapeutically relevant. ..
- Tefferi A. Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. J Cell Mol Med. 2009;13:215-37 pubmed publisher..The current review discusses the above listed mutant molecules in the context of their value as drug targets. ..
- Tefferi A, Sirhan S, Lasho T, Schwager S, Li C, Dingli D, et al. Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol. 2005;131:166-71 pubmed..However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accuracy in distinguishing PV from SP. ..
- Tefferi A, Mudireddy M, Mannelli F, Begna K, Patnaik M, Hanson C, et al. Blast phase myeloproliferative neoplasm: Mayo-AGIMM study of 410 patients from two separate cohorts. Leukemia. 2018;32:1200-1210 pubmed publisher..The current study identifies the setting for improved short-term survival in MPN-BP, but also highlights the limited value of current therapy, including AlloSCT, in securing long-term survival. ..
- Tefferi A, Vannucchi A, Barbui T. Essential thrombocythemia treatment algorithm 2018. Blood Cancer J. 2018;8:2 pubmed publisher..Herein, we provide a point-of-care treatment algorithm that is risk-adapted and based on evidence and decades of experience. ..
- Patnaik M, Tefferi A. Chronic Myelomonocytic Leukemia: Focus on Clinical Practice. Mayo Clin Proc. 2016;91:259-72 pubmed publisher..The creation of CMML-specific response criteria is a much needed step in order to improve clinical outcomes. ..
- Tefferi A, Rumi E, Finazzi G, Gisslinger H, Vannucchi A, Rodeghiero F, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013;27:1874-81 pubmed publisher..Leukemic transformation was associated with treatment exposure to pipobroman or P32/chlorambucil. We found no association between leukemic transformation and hydroxyurea or busulfan use. ..
- Cerquozzi S, Barraco D, Lasho T, Finke C, Hanson C, Ketterling R, et al. Risk factors for arterial versus venous thrombosis in polycythemia vera: a single center experience in 587 patients. Blood Cancer J. 2017;7:662 pubmed publisher..In conclusion, we identify distinct associations for arterial versus venous thrombosis in PV and confirm that a prior arterial or venous thrombotic event is the most reliable predictor of subsequent events. ..
- Szuber N, Tefferi A. Chronic neutrophilic leukemia: new science and new diagnostic criteria. Blood Cancer J. 2018;8:19 pubmed publisher..Finally, we summarize and discuss current treatment options as well as prospective novel therapeutic targets in hopes that they will yield meaningful improvements in patient management and outcomes. ..
- Tefferi A, Vannucchi A, Barbui T. Polycythemia vera treatment algorithm 2018. Blood Cancer J. 2018;8:3 pubmed publisher..In addition, it is reasonable to consider JAK2 inhibitor therapy, in the presence of protracted pruritus or markedly enlarged splenomegaly shown to be refractory to the aforementioned drugs. ..
- Farhadfar N, Cerquozzi S, Patnaik M, Tefferi A. Allogeneic Hematopoietic Stem-Cell Transplantation for Myelofibrosis: A Practical Review. J Oncol Pract. 2016;12:611-21 pubmed publisher..This review summarizes our current recommendations for the role of and indications for HSCT in myelofibrosis. ..
- Tefferi A, Vannucchi A. Genetic Risk Assessment in Myeloproliferative Neoplasms. Mayo Clin Proc. 2017;92:1283-1290 pubmed publisher..Further enhancement of genetic risk stratification in myeloproliferative neoplasms is possible by combining cytogenetic and mutation information and developing a prognostic model that is adjusted for age. ..
- Tefferi A, Jimma T, Sulai N, Lasho T, Finke C, Knudson R, et al. IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2V617F. Leukemia. 2012;26:475-80 pubmed publisher..Our observations suggest that IDH mutations in PMF are independent predictors of leukemic transformation and raise the possibility of leukemogenic collaboration with JAK2V617F. ..
- Tefferi A, Pardanani A. Systemic mastocytosis: current concepts and treatment advances. Curr Hematol Rep. 2004;3:197-202 pubmed..Cladribine has been shown to be effective in patients who develop resistance to interferon treatment...
- Tefferi A, Cortes J, Verstovsek S, Mesa R, Thomas D, Lasho T, et al. Lenalidomide therapy in myelofibrosis with myeloid metaplasia. Blood. 2006;108:1158-64 pubmed..We conclude that lenalidomide engenders an intriguing treatment activity in a subset of patients with MMM that includes an unprecedented effect on peripheral blood and bone marrow abnormalities...
- Tefferi A, Levine R, Lim K, Abdel Wahab O, Lasho T, Patel J, et al. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia. 2009;23:900-4 pubmed publisher..98). We conclude that TET2 mutations are frequent in SM, segregate with KITD816V and influence phenotype without necessarily altering prognosis. ..
- Tefferi A, Patnaik M, Pardanani A. Eosinophilia: secondary, clonal and idiopathic. Br J Haematol. 2006;133:468-92 pubmed..The current communication features a comprehensive clinical summary of both secondary and primary eosinophilic disorders with emphasis on recent developments in molecular pathogenesis and treatment...
- Tefferi A. Essential thrombocythemia, polycythemia vera, and myelofibrosis: current management and the prospect of targeted therapy. Am J Hematol. 2008;83:491-7 pubmed publisher..Herein, I will first outline my views regarding current management in ET, PV, and PMF and then discuss emerging data on preclinical and clinical activity of anti-JAK2 small molecule drugs. Am. J. Hematol., 2008. (c) 2008 Wiley-Liss, Inc...
- Tefferi A, Lasho T, Abdel Wahab O, Guglielmelli P, Patel J, Caramazza D, et al. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia. 2010;24:1302-9 pubmed publisher..The current study clarifies disease- and stage-specific IDH mutation incidence and prognostic relevance in MPN and provides additional evidence for the biological effect of distinct JAK2 haplotypes...
- Tefferi A. Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. Leuk Lymphoma. 2010;51:576-82 pubmed publisher..Current information on mutational status and response to JAK2 inhibitor drug therapy is too preliminary to draw any conclusions. ..
- Tefferi A, Gotlib J, Pardanani A. Hypereosinophilic syndrome and clonal eosinophilia: point-of-care diagnostic algorithm and treatment update. Mayo Clin Proc. 2010;85:158-64 pubmed publisher..In the current review, we provide a simplified algorithm for distinguishing the various causes of clonal and idiopathic eosinophilia and discuss current therapy, including new drugs (imatinib mesylate, alemtuzumab, and mepolizumab)...
- Tefferi A, Skoda R, Vardiman J. Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. Nat Rev Clin Oncol. 2009;6:627-37 pubmed publisher..We discuss histologic, cytogenetic and molecular changes in MPN and illustrate their integration into practical diagnostic algorithms...
- Yogarajah M, Tefferi A. Leukemic Transformation in Myeloproliferative Neoplasms: A Literature Review on Risk, Characteristics, and Outcome. Mayo Clin Proc. 2017;92:1118-1128 pubmed publisher..In the meantime, affected patients might be best served with aggressive chemotherapy followed by allogeneic stem cell transplant after adequate blast clearance. ..
- Tefferi A, Cervantes F, Mesa R, Passamonti F, Verstovsek S, Vannucchi A, et al. Revised response criteria for myelofibrosis: International Working Group-Myeloproliferative Neoplasms Research and Treatment (IWG-MRT) and European LeukemiaNet (ELN) consensus report. Blood. 2013;122:1395-8 pubmed publisher..Additional criteria are provided for progressive disease, stable disease, and relapse. The document also includes recommendations for assessing cytogenetic and molecular remissions, without mandating their inclusion for CR assignment. ..
- Tefferi A. Annual Clinical Updates in Hematological Malignancies: a continuing medical education series: polycythemia vera and essential thrombocythemia: 2011 update on diagnosis, risk-stratification, and management. Am J Hematol. 2011;86:292-301 pubmed publisher..Other disease features include leukocytosis, splenomegaly, thrombohemorrhagic complications, vasomotor disturbances, pruritus, and a small risk of disease progression into acute leukemia or myelofibrosis...
- Tefferi A, Vaidya R, Caramazza D, Finke C, Lasho T, Pardanani A. Circulating interleukin (IL)-8, IL-2R, IL-12, and IL-15 levels are independently prognostic in primary myelofibrosis: a comprehensive cytokine profiling study. J Clin Oncol. 2011;29:1356-63 pubmed publisher..This study signifies the presence of specific cytokine-phenotype associations in PMF and a prognostically relevant plasma cytokine signature that might prove useful as a laboratory tool for predicting and monitoring treatment response. ..
- Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010;24:1128-38 pubmed publisher..However, it is not clear as to whether and how these abnormalities contribute to disease initiation, clonal evolution or blastic transformation...
- Tefferi A, Lasho T, Schwager S, Strand J, Elliott M, Mesa R, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer. 2006;106:631-5 pubmed
- Tefferi A, Pardanani A, Lim K, Abdel Wahab O, Lasho T, Patel J, et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009;23:905-11 pubmed publisher..We conclude that TET2 mutations occur in both JAK2V617F-positive and -negative MPN, are more prevalent in older patients, display similar frequencies across MPN subcategories and disease stages, and hold limited prognostic relevance. ..