Research & Literature

Efficacy, safety, and survival with ruxolitinib in patients with myelofibrosis: results of a median 3-year follow-up of COMFORT-I.

Verstovsek S, Mesa RA, Gotlib J, et al.

Haematologica 2015; (100(4)):479-88 doi:10.3324/haematol.2014.115840.

JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis.

Kim BH, Cho YU, Bae MH, et al.

Journal of Korean medical science 2015; (30(7)):882-8 doi:10.3346/jkms.2015.30.7.882.

Myeloproliferative Neoplasms: A Contemporary Review.

Tefferi A, Pardanani A

JAMA oncology 2015; (1(1)):97-105 doi:10.1001/jamaoncol.2015.89.

Fibrogenesis in Primary Myelofibrosis: Diagnostic, Clinical, and Therapeutic Implications.

Nazha A, Khoury JD, Rampal RK, Daver N

The oncologist 2015; (20(10)):1154-60 doi:10.1634/theoncologist.2015-0094.

Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms.

Pietra D, Rumi E, Ferretti VV, et al.

Leukemia 2016; (30(2)):431-8 doi:10.1038/leu.2015.277.

Clinical impact of bone marrow morphology for the diagnosis of essential thrombocythemia: comparison between the BCSH and the WHO criteria.

Gisslinger H, Jeryczynski G, Gisslinger B, et al.

Leukemia 2016; (30(5)):1126-32 doi:10.1038/leu.2015.360.

Primary Idiopathic Myelofibrosis: Clinico-Epidemiological Profile and Risk Stratification in Pakistani Patients.

Sultan S, Irfan SM

Asian Pacific journal of cancer prevention : APJCP 2015; (16(18)):8629-31 doi:10.7314/apjcp.2015.16.18.8629.

Alleviating anemia and thrombocytopenia in myelofibrosis patients.

Cervantes F, Correa JG, Hernandez-Boluda JC

Expert review of hematology 2016; (9(5)):489-96 doi:10.1586/17474086.2016.1154452.

TERT rs2736100 A>C SNP and JAK2 46/1 haplotype significantly contribute to the occurrence of JAK2 V617F and CALR mutated myeloproliferative neoplasms - a multicentric study on 529 patients.

Trifa AP, Bănescu C, Tevet M, et al.

British journal of haematology 2016; (174(2)):218-26 doi:10.1111/bjh.14041.

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.

Hinds DA, Barnholt KE, Mesa RA, et al.

Blood 2016; (128(8)):1121-8 doi:10.1182/blood-2015-06-652941.

Prognostic value of CALR vs. JAK2V617F mutations on splenomegaly, leukemic transformation, thrombosis, and overall survival in patients with primary fibrosis: a meta-analysis.

Pei YQ, Wu Y, Wang F, Cui W

Annals of hematology 2016; (95(9)):1391-8 doi:10.1007/s00277-016-2712-0.

Prognosis of Primary Myelofibrosis in the Genomic Era.

Bose P, Verstovsek S

Clinical lymphoma, myeloma & leukemia 2016; (16 Suppl()):S105-13.

Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents.

Fenwick A, Plantinga M, Dheensa S, Lucassen A

Journal of genetic counseling 2017; (26(2)):244-250 doi:10.1007/s10897-016-0018-y.

Molecular Pathogenesis and Clinical Significance of Driver Mutations in Primary Myelofibrosis: A Review.

Alshemmari SH, Rajan R, Emadi A

Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2016; (25(6)):501-509 doi:10.1159/000450956.

Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management.

Tefferi A

American journal of hematology 2016; (91(12)):1262-1271 doi:10.1002/ajh.24592.

Predictive factors for anemia response to erythropoiesis-stimulating agents in myelofibrosis.

Hernández-Boluda JC, Correa JG, García-Delgado R, et al.

European journal of haematology 2017; (98(4)):407-414 doi:10.1111/ejh.12846.

Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms.

Vainchenker W, Kralovics R

Blood 2017; (129(6)):667-679 doi:10.1182/blood-2016-10-695940.

Germline Genetic Predisposition to Hematologic Malignancy.

Furutani E, Shimamura A

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017; (35(9)):1018-1028 doi:10.1200/JCO.2016.70.8644.

Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.

Rumi E, Cazzola M

British journal of haematology 2017; (178(5)):689-698 doi:10.1111/bjh.14713.

Leptin-receptor-expressing bone marrow stromal cells are myofibroblasts in primary myelofibrosis.

Decker M, Martinez-Morentin L, Wang G, et al.

Nature cell biology 2017; (19(6)):677-688 doi:10.1038/ncb3530.

Allogeneic Stem Cell Transplantation in Myelofibrosis.

Jain T, Mesa RA, Palmer JM

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017; (23(9)):1429-1436 doi:10.1016/j.bbmt.2017.05.007.

Recognition of familial myeloid neoplasia in adults.

Brown AL, Churpek JE, Malcovati L, et al.

Seminars in hematology 2017; (54(2)):60-68 doi:10.1053/j.seminhematol.2016.11.003.

SIMPLIFY-1: A Phase III Randomized Trial of Momelotinib Versus Ruxolitinib in Janus Kinase Inhibitor-Naïve Patients With Myelofibrosis.

Mesa RA, Kiladjian JJ, Catalano JV, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017; (35(34)):3844-3850 doi:10.1200/JCO.2017.73.4418.

The clinical and prognostic relevance of driver mutations in 203 Taiwanese patients with primary myelofibrosis.

Kuo MC, Lin TH, Sun CF, et al.

Journal of clinical pathology 2018; (71(6)):514-521 doi:10.1136/jclinpath-2017-204829.

MIPSS70: Mutation-Enhanced International Prognostic Score System for Transplantation-Age Patients With Primary Myelofibrosis.

Guglielmelli P, Lasho TL, Rotunno G, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018; (36(4)):310-318 doi:10.1200/JCO.2017.76.4886.

Pacritinib vs Best Available Therapy, Including Ruxolitinib, in Patients With Myelofibrosis: A Randomized Clinical Trial.

Mascarenhas J, Hoffman R, Talpaz M, et al.

JAMA oncology 2018; (4(5)):652-659 doi:10.1001/jamaoncol.2017.5818.

The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

Anelli L, Zagaria A, Specchia G, Albano F

International journal of molecular sciences 2018; (19(4)) doi:10.3390/ijms19041152.

GIPSS: genetically inspired prognostic scoring system for primary myelofibrosis.

Tefferi A, Guglielmelli P, Nicolosi M, et al.

Leukemia 2018; (32(7)):1631-1642 doi:10.1038/s41375-018-0107-z.

Diagnosis and management of prefibrotic myelofibrosis.

Rumi E, Sant'Antonio E, Boveri E, et al.

Expert review of hematology 2018; (11(7)):537-545 doi:10.1080/17474086.2018.1484280.

Primary myelofibrosis: 2019 update on diagnosis, risk-stratification and management.

Tefferi A

American journal of hematology 2018; (93(12)):1551-1560 doi:10.1002/ajh.25230.

Myelofibrosis Treatment Algorithm 2018.

Tefferi A, Guglielmelli P, Pardanani A, Vannucchi AM

Blood cancer journal 2018; (8(8)):72 doi:10.1038/s41408-018-0109-0.

Leveraging JAK-STAT regulation in myelofibrosis to improve outcomes with allogeneic hematopoietic stem-cell transplant.

Byrne M, Savani B, Savona MR

Therapeutic advances in hematology 2018; (9(9)):251-259 doi:10.1177/2040620718786437.

Prefibrotic myelofibrosis: treatment algorithm 2018.

Finazzi G, Vannucchi AM, Barbui T

Blood cancer journal 2018; (8(11)):104 doi:10.1038/s41408-018-0142-z.

The ruxolitinib effect: understanding how molecular pathogenesis and epigenetic dysregulation impact therapeutic efficacy in myeloproliferative neoplasms.

Greenfield G, McPherson S, Mills K, McMullin MF

Journal of translational medicine 2018; (16(1)):360 doi:10.1186/s12967-018-1729-7.

Leukemic transformation among 1306 patients with primary myelofibrosis: risk factors and development of a predictive model.

Vallapureddy RR, Mudireddy M, Penna D, et al.

Blood cancer journal 2019; (9(2)):12 doi:10.1038/s41408-019-0175-y.

Rethinking the "open future" argument against predictive genetic testing of children.

Garrett JR, Lantos JD, Biesecker LG, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(10)):2190-2198 doi:10.1038/s41436-019-0483-4.

TERT and JAK2 polymorphisms define genetic predisposition to myeloproliferative neoplasms in Japanese patients.

Matsuguma M, Yujiri T, Yamamoto K, et al.

International journal of hematology 2019; (110(6)):690-698 doi:10.1007/s12185-019-02742-7.

Recent insights regarding the molecular basis of myeloproliferative neoplasms.

Jang MA, Choi CW

The Korean journal of internal medicine 2020; (35(1)):1-11 doi:10.3904/kjim.2019.317.

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.

Baliakas P, Tesi B, Wartiovaara-Kautto U, et al.

HemaSphere 2019; (3(6)):e321 doi:10.1097/HS9.0000000000000321.

The new WHO classification for essential thrombocythemia calls for revision of available evidences.

Barbui T, Thiele J, Ferrari A, et al.

Blood cancer journal 2020; (10(2)):22 doi:10.1038/s41408-020-0290-9.

Myelofibrosis biology and contemporary management.

Gangat N, Tefferi A

British journal of haematology 2020; (191(2)):152-170 doi:10.1111/bjh.16576.

Epidemiology of the classical myeloproliferative neoplasms: The four corners of an expansive and complex map.

Shallis RM, Wang R, Davidoff A, et al.

Blood reviews 2020; (42()):100706 doi:10.1016/j.blre.2020.100706.

Transforming growth factor β-mediated micromechanics modulates disease progression in primary myelofibrosis.

Teodorescu P, Pasca S, Jurj A, et al.

Journal of cellular and molecular medicine 2020; (24(19)):11100-11110 doi:10.1111/jcmm.15526.

Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.

Tefferi A

American journal of hematology 2021; (96(1)):145-162 doi:10.1002/ajh.26050.

[The prognostic value of ASXL1 mutation in primary myelofibrosis. Literature review and clinical case description].

Melikyan AL, Subortseva IN, Gilyazitdinova EA, et al.

Terapevticheskii arkhiv 2020; (92(7)):95-99 doi:10.26442/00403660.2020.07.000788.

Prognostic value of ASXL1 mutations in patients with primary myelofibrosis and its relationship with clinical features: a meta-analysis.

Wang Z, Liu W, Wang M, et al.

Annals of hematology 2021; (100(2)):465-479 doi:10.1007/s00277-020-04387-7.

Somatically acquired mutations in primary myelofibrosis: A case report and meta-analysis.

Xia Y, Hong Q, Gao Z, et al.

Experimental and therapeutic medicine 2021; (21(3)):193 doi:10.3892/etm.2021.9625.

Epidemiology of the Philadelphia Chromosome-Negative Classical Myeloproliferative Neoplasms.

Shallis RM, Zeidan AM, Wang R, Podoltsev NA

Hematology/oncology clinics of North America 2021; (35(2)):177-189 doi:10.1016/j.hoc.2020.11.005.

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Stockklausner C, Duffert CM, Cario H, et al.

Annals of hematology 2021; (100(7)):1647-1665 doi:10.1007/s00277-021-04485-0.

Functional Consequences of Mutations in Myeloproliferative Neoplasms.

Constantinescu SN, Vainchenker W, Levy G, Papadopoulos N

HemaSphere 2021; (5(6)):e578 doi:10.1097/HS9.0000000000000578.

Incidental findings from cancer next generation sequencing panels.

Maani N, Panabaker K, McCuaig JM, et al.

NPJ genomic medicine 2021; (6(1)):63 doi:10.1038/s41525-021-00224-6.

Efficacy and tolerability of Janus kinase inhibitors in myelofibrosis: a systematic review and network meta-analysis.

Sureau L, Orvain C, Ianotto JC, et al.

Blood cancer journal 2021; (11(7)):135 doi:10.1038/s41408-021-00526-z.

Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.

Elbracht M, Meyer R, Kricheldorf K, et al.

Blood advances 2021; (5(17)):3373-3376 doi:10.1182/bloodadvances.2021004811.

Management of Myelofibrosis-Associated Anemia: Focus on Standard Agents and Novel Therapeutics in Phase 3 Clinical Trials.

Stein BL

Current hematologic malignancy reports 2021; (16(5)):483-489 doi:10.1007/s11899-021-00651-3.

Classical Philadelphia-negative myeloproliferative neoplasms (MPNs): A continuum of different disease entities.

Coltro G, Loscocco GG, Vannucchi AM

International review of cell and molecular biology 2021; (365()):1-69 doi:10.1016/bs.ircmb.2021.09.001.

New Markers of Disease Progression in Myelofibrosis.

Campanelli R, Massa M, Rosti V, Barosi G

Cancers 2021; (13(21)) doi:10.3390/cancers13215324.

Donor Clonal Hematopoiesis and Recipient Outcomes After Transplantation.

Gibson CJ, Kim HT, Zhao L, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022; (40(2)):189-201 doi:10.1200/JCO.21.02286.

The roles of sex and genetics in the MPN.

Moliterno AR, Braunstein EM

International review of cell and molecular biology 2022; (366()):1-24 doi:10.1016/bs.ircmb.2021.08.001.

How I Diagnose Primary Myelofibrosis.

Prakash S, Orazi A

American journal of clinical pathology 2022; (157(4)):518-530 doi:10.1093/ajcp/aqac016.

The international consensus classification of myeloid neoplasms and acute Leukemias: myeloproliferative neoplasms.

Thiele J, Kvasnicka HM, Orazi A, et al.

American journal of hematology 2023; (98(1)):166-179 doi:10.1002/ajh.26751.

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Luque Paz D, Kralovics R, Skoda RC

Blood 2023; (141(16)):1909-1921 doi:10.1182/blood.2022017578.

Diagnostic and Therapeutic Challenges of Chronic Portal Vein Thrombosis Secondary to Myeloproliferative Neoplasm in Sub-Saharan Region: A Series of Cases and Literature Review.

Mohammed A, Shewaye AB, Abdela F, et al.

International medical case reports journal 2023; (16()):13-25 doi:10.2147/IMCRJ.S385219.

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.

Tefferi A

American journal of hematology 2023; (98(5)):801-821 doi:10.1002/ajh.26857.

Prioritization of patients for germline testing based on tumor profiling of hematopoietic malignancies.

Godley LA

Frontiers in oncology 2023; (13()):1084736 doi:10.3389/fonc.2023.1084736.

Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Yun J, Song H, Kim SM, et al.

Human genomics 2023; (17(1)):13 doi:10.1186/s40246-023-00458-8.

Unrelated hematopoietic stem cell transplantation for familial platelet disorder/acute myeloid leukemia with germline RUNX1 mutations.

Toratani K, Watanabe M, Kanda J, et al.

International journal of hematology 2023; (118(3)):400-405 doi:10.1007/s12185-023-03575-1.

Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management.

Tefferi A, Barbui T

American journal of hematology 2023; (98(9)):1465-1487 doi:10.1002/ajh.27002.

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H, Adamsson J, Johansson P, et al.

Frontiers in oncology 2023; (13()):1190305 doi:10.3389/fonc.2023.1190305.

Ethical Aspects of Pediatric Genetic Care: Testing and Treatment.

Ormond KE, Blasimme A, Vayena E

Pediatric clinics of North America 2023; (70(5)):1029-1046 doi:10.1016/j.pcl.2023.05.011.

The prognostic contribution of CBL, NRAS, KRAS, RUNX1, and TP53 mutations to mutation-enhanced international prognostic score systems (MIPSS70/plus/plus v2.0) for primary myelofibrosis.

Loscocco GG, Rotunno G, Mannelli F, et al.

American journal of hematology 2024; (99(1)):68-78 doi:10.1002/ajh.27136.

Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation.

Williams LS, Williams KM, Gillis N, et al.

Transplantation and cellular therapy 2024; (30(3)):255-267 doi:10.1016/j.jtct.2023.10.018.

Indication and management of allogeneic haematopoietic stem-cell transplantation in myelofibrosis: updated recommendations by the EBMT/ELN International Working Group.

Kröger N, Bacigalupo A, Barbui T, et al.

The Lancet. Haematology 2024; (11(1)):e62-e74 doi:10.1016/S2352-3026(23)00305-8.

ACVR1: A Novel Therapeutic Target to Treat Anemia in Myelofibrosis.

Duminuco A, Chifotides HT, Giallongo S, et al.

Cancers 2023; (16(1)) doi:10.3390/cancers16010154.

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.

Arai H, Matsui H, Chi S, et al.

International journal of molecular sciences 2024; (25(1)) doi:10.3390/ijms25010652.

A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia.

Hao Z, Li J, Gao F, et al.

Frontiers in oncology 2023; (13()):1265022 doi:10.3389/fonc.2023.1265022.

Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management.

Tefferi A, Vannucchi AM, Barbui T

American journal of hematology 2024; (99(4)):697-718 doi:10.1002/ajh.27216.

The application of JAK inhibitors in the peri-transplantation period of hematopoietic stem cell transplantation for myelofibrosis.

Wang Z, Jin X, Zeng J, et al.

Annals of hematology 2024; (103(9)):3293-3301 doi:10.1007/s00277-024-05703-1.

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.

Vears DF, McLean A, La Spina C, et al.

Twin research and human genetics : the official journal of the International Society for Twin Studies 2024; (27(2)):120-127 doi:10.1017/thg.2024.9.

Hereditary chronic neutrophilic leukemia in a four-generation family without transformation to acute leukemia.

Lance A, Chiad Z, Seegers SL, et al.

American journal of hematology 2024; (99(10)):1877-1886 doi:10.1002/ajh.27420.

Efficacy and safety of fedratinib in patients with myelofibrosis previously treated with ruxolitinib (FREEDOM2): results from a multicentre, open-label, randomised, controlled, phase 3 trial.

Harrison CN, Mesa R, Talpaz M, et al.

The Lancet. Haematology 2024; (11(10)):e729-e740 doi:10.1016/S2352-3026(24)00212-6.

Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes.

Lim J, Ross DM, Brown AL, et al.

Leukemia research 2024; (146()):107566 doi:10.1016/j.leukres.2024.107566.

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation.

Yoshida S, Semba Y, Takashima S, et al.

Case reports in hematology 2024; (2024()):4611649 doi:10.1155/2024/4611649.

Diagnosis and Treatment of Polycythemia Vera: A Review.

Tremblay D, Kremyanskaya M, Mascarenhas J, Hoffman R

JAMA 2025; (333(2)):153-160 doi:10.1001/jama.2024.20377.

Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.

Ranucci G, Page C, Marchionni E, et al.

Annals of hematology 2024; (103(12)):5999-6002 doi:10.1007/s00277-024-06140-w.

Evolution of WHO diagnostic criteria in "Classical Myeloproliferative Neoplasms" compared with the International Consensus Classification.

Thiele J, Kvasnicka HM, Gianelli U, et al.

Blood cancer journal 2025; (15(1)):31 doi:10.1038/s41408-025-01235-7.

Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.

Kusne Y, Badar T, Lasho T, et al.

British journal of haematology 2025; (206(4)):1109-1120 doi:10.1111/bjh.20018.

Development of an automated artificial intelligence-based tool for reticulin fibrosis assessment in bone marrow biopsies.

D'Abbronzo G, D'Antonio A, De Chiara A, et al.

Virchows Archiv : an international journal of pathology 2026; (489(2)):495-502 doi:10.1007/s00428-025-04122-5.

Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.

Ridd S, Peck L, Bankar A, et al.

NPJ genomic medicine 2025; (10(1)):39 doi:10.1038/s41525-025-00476-6.

Germline JAK2 R564Q variants presenting as hereditary thrombocytosis: case report.

Franco S, Krawiec K, Strzalka P, Godley LA

BJC reports 2025; (3(1)):69 doi:10.1038/s44276-025-00186-7.

Myelofibrosis-associated extramedullary hematopoiesis: Insights into hepatic, pulmonary, and thrombotic complications.

Amanam I, Otoukesh S, Pullarkat V, et al.

Blood reviews 2026; (75()):101355 doi:10.1016/j.blre.2025.101355.

Distinct clinical, molecular, and treatment response profiles in primary and secondary myelofibrosis: a single-center retrospective study.

Liu W, Ren Y, Liang Y, et al.

Hematology (Amsterdam, Netherlands) 2026; (31(1)):2682015 doi:10.1080/16078454.2026.2682015.

Primary Myelofibrosis (PMF)-The German ONKOPEDIA Guideline 2025.

Griesshammer M, Al-Ali HK, Baerlocher GM, et al.

International journal of cancer 2026; (159(7)):1642-1662 doi:10.1002/ijc.70596.

Germline predisposition in myeloproliferative neoplasms.

Chernoff M, Drazer MW

Seminars in hematology 2026; doi:10.1053/j.seminhematol.2026.06.006.

Precision medicine in myelofibrosis: from molecular profiling to personalized therapy.

Al-Shibly R, Kaddoura R, Ismail O, Yassin MA

Frontiers in oncology 2026; (16()):1877425 doi:10.3389/fonc.2026.1877425.

Insights to Provider Practice of Germline Testing for Inherited Hematologic Malignancy Predisposition Syndromes to Inform Hematopoietic Stem Cell Transplantation.

Williams AS, DeSalvo A, Sanchez-Petitto G, Cooper J

Transplantation and cellular therapy 2026; doi:10.1016/j.jtct.2026.08.004.

Megakaryocytes in myelofibrosis: mechanisms of fibrotic niche remodeling and therapeutic implications.

Huang J, Yin X, Shi X, et al.

Biomarker research 2026; (14(1)).