Primary myelofibrosis

A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.



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Narrow down the case reports



Total: 467 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(61.9%)		 20949707
 Bilateral ureteral obstruction due to primary myelofibrosis caused hyperuricaemia.
Cvetkovic ZP, Cvetkovic BR, Celeketic D, Milenkovic D, Perunicic-Pekovic G.
Acta Chir Iugosl. 2010;57(2):79-83.
Hydronephrosis Plethora Splenomegaly Poikilocytosis
Homo sapiens Hyperuricemia Male Middle Aged Primary Myelofibrosis
2
(56.8%)		 27734802
 An usual cause of elliptocytosis.
Broseus J, Roth-Guepin G, D'Aveni-Piney M, Perrot A, Lesesve JF, Perrin J.
Ann Biol Clin (Paris). 2016;74(6):704-707.
Splenomegaly Anemia Elliptocytosis
Anemia Elliptocytosis, Hereditary Homo sapiens Incidental Findings Male Middle Aged Mutation Primary Myelofibrosis
2
(56.8%)		 12389633
 Idiopathic myelofibrosis associated with ulcerative colitis.
Arellano-Rodrigo E, Esteve J, Gine E, Panes J, Cervantes F.
Leuk Lymphoma. 2002;43(7):1481-3.
Splenomegaly Anemia Poikilocytosis
Homo sapiens Male Primary Myelofibrosis Ulcerative Colitis
4
(56.2%)		 6576466
 [Acute osteomyelofibrosis. An overview and 2 personal cases].
Strebel U, Schaffner A, Fehr J.
Schweiz Med Wochenschr. 1983;113(23):844-50.
Splenomegaly Poikilocytosis
Adult Differential Diagnosis Females Hairy Cell Leukemia Homo sapiens Male Middle Aged Myeloid Leukemia Primary Myelofibrosis
4
(56.2%)		 1469787
 [Primary myelofibrosis successfully treated with allogeneic bone marrow transplantation].
Iwata N, Inoue N, Tamura A, Miyazaki E, Fujimori Y, Okamoto T, Takemoto Y, Kosaki M, Kanamaru A, Kakishita E, et al..
Rinsho Ketsueki. 1992;33(11):1703-7.
Splenomegaly Poikilocytosis
Adult Bone Marrow Transplantation Homo sapiens Male Primary Myelofibrosis Remission Induction
4
(56.2%)		 851094
 Acute myelofibrosis: a report of three cases.
Fabich DR, Raich PC.
Am J Clin Pathol. 1977;67(4):334-8.
Splenomegaly Poikilocytosis
Acute Disease Blood Cells Bone Marrow Bone Marrow Cells Homo sapiens Male Middle Aged Pancytopenia Primary Myelofibrosis
7
(56.2%)		 25034748
 Acute respiratory distress syndrome in a patient with primary myelofibrosis after ruxolitinib treatment discontinuation.
Beauverd Y, Samii K.
Int J Hematol. 2014;100(5):498-501.
Splenomegaly Anemia Fever
Anemia Homo sapiens Male Nitriles Primary Myelofibrosis Protein Kinase Inhibitors Pyrazoles Pyrimidines Radiography, Thoracic Respiratory Distress Syndrome Thrombocytopenia X-Ray Computed Tomography
7
(56.2%)		 23039051
(3515333)
 Disseminated tuberculosis in a patient treated with a JAK2 selective inhibitor: a case report.
Colomba C, Rubino R, Siracusa L, Lalicata F, Trizzino M, Titone L, Tolomeo M.
BMC Res Notes. 2012;5:552.
Splenomegaly Anemia Fever
JAK2 NELFCD
Antitubercular Agents Homo sapiens Male Nitriles Primary Myelofibrosis Pyrazoles Pyrimidines Tuberculosis
7
(56.2%)		 15713582
 Myeloablative conditioning in myelofibrosis using i.v. treosulfan and autologous peripheral blood progenitor cell transplantation with high doses of CD34+ cells results in hematologic responses - follow-up of three patients.
Fruehauf S, Buss EC, Topaly J, Kreipe HH, Ho AD.
Haematologica. 2005;90(2):ECR08.
Splenomegaly Anemia Fever
CD34
CD34 Antigens Females Follow-Up Studies Homo sapiens Middle Aged Myeloablative Agonists Peripheral Stem Cell Transplantation Primary Myelofibrosis Transplantation Conditioning
7
(56.2%)		 11986248
 Phase 2 trial of imatinib mesylate in myelofibrosis with myeloid metaplasia.
Tefferi A, Mesa RA, Gray LA, Steensma DP, Camoriano JK, Elliott MA, Pardanani A, Ansell SM, Call TG, Colon-Otero G, Schroeder G, Hanson CA, Dewald GW, Kaufmann SH.
Blood. 2002;99(10):3854-6.
Edema Splenomegaly Anemia
Adult Benzamides Colony-Forming Units Assay Dose-Response Relationship, Drug Enzyme Inhibitors Females Homo sapiens Male Middle Aged Myeloid Progenitor Cells Piperazines Primary Myelofibrosis Protein Tyrosine Kinase Pyrimidines
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0005561 Abnormality of bone marrow cell morphology Very frequent (99-80%)
HP:0000980 Pallor Frequent (79-30%)
HP:0001433 Hepatosplenomegaly Frequent (79-30%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0001871 Abnormality of blood and blood-forming tissues Frequent (79-30%)
HP:0001873 Thrombocytopenia Frequent (79-30%)
HP:0001903 Anemia Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0012143 Abnormal megakaryocyte morphology Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0025142 Constitutional symptom Frequent (79-30%)
HP:0000967 Petechiae Occasional (29-5%)
HP:0000979 Purpura Occasional (29-5%)
HP:0001409 Portal hypertension Occasional (29-5%)
HP:0001876 Pancytopenia Occasional (29-5%)
HP:0001892 Abnormal bleeding Occasional (29-5%)
HP:0001894 Thrombocytosis Occasional (29-5%)
HP:0001945 Fever Occasional (29-5%)
HP:0001974 Leukocytosis Occasional (29-5%)
HP:0001977 Abnormal thrombosis Occasional (29-5%)
HP:0001978 Extramedullary hematopoiesis Occasional (29-5%)
HP:0002039 Anorexia Occasional (29-5%)
HP:0002716 Lymphadenopathy Occasional (29-5%)
HP:0003388 Easy fatigability Occasional (29-5%)
HP:0004420 Arterial thrombosis Occasional (29-5%)
HP:0004447 Poikilocytosis Occasional (29-5%)
HP:0004936 Venous thrombosis Occasional (29-5%)
HP:0011134 Low-grade fever Occasional (29-5%)
HP:0030157 Flank pain Occasional (29-5%)
HP:0031020 Bone marrow hypercellularity Occasional (29-5%)
HP:0031364 Ecchymosis Occasional (29-5%)
HP:0001028 Hemangioma Very rare (4-1%)
HP:0004326 Cachexia Very rare (4-1%)
HP:0004377 Hematological neoplasm Very rare (4-1%)
HP:0025435 Increased lactate dehydrogenase activity Very rare (4-1%)
HP:0030057 Autoimmune antibody positivity Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 109

HPO ID Term # of case reports
HP:0011974 Myelofibrosis 53
HP:0001978 Extramedullary hematopoiesis 49
HP:0001744 Splenomegaly 36
HP:0001909 Leukemia 21
HP:0001903 Anemia 19
HP:0001876 Pancytopenia 11
HP:0001409 Portal hypertension 10
HP:0001541 Ascites 10
HP:0000822 Hypertension 7
HP:0001433 Hepatosplenomegaly 7
HP:0002094 Dyspnea 7
HP:0001894 Thrombocytosis 6
HP:0002202 Pleural effusion 6
HP:0002488 Acute leukemia 6
HP:0001945 Fever 5
HP:0002835 Aspiration 5
HP:0001974 Leukocytosis 4
HP:0004447 Poikilocytosis 4
HP:0001370 Rheumatoid arthritis 3
HP:0001698 Pericardial effusion 3
HP:0001873 Thrombocytopenia 3
HP:0002040 Esophageal varix 3
HP:0002664 Neoplasm 3
HP:0002716 Lymphadenopathy 3
HP:0002863 Myelodysplasia 3
HP:0003072 Hypercalcemia 3
HP:0004936 Venous thrombosis 3
HP:0000093 Proteinuria 2
HP:0000979 Purpura 2
HP:0001482 Subcutaneous nodule 2
HP:0001824 Weight loss 2
HP:0001878 Hemolytic anemia 2
HP:0001880 Eosinophilia 2
HP:0002176 Spinal cord compression 2
HP:0002206 Pulmonary fibrosis 2
HP:0002240 Hepatomegaly 2
HP:0002653 Bone pain 2
HP:0025142 Constitutional symptom 2
HP:0030731 Carcinoma 2
HP:0032147 Erythromelalgia 2
HP:0000097 Focal segmental glomerulosclerosis 1
HP:0000100 Nephrotic syndrome 1
HP:0000126 Hydronephrosis 1
HP:0000726 Dementia 1
HP:0000790 Hematuria 1
HP:0000980 Pallor 1
HP:0000988 Skin rash 1
HP:0001028 Hemangioma 1
HP:0001289 Confusion 1
HP:0001324 Muscle weakness 1
HP:0001369 Arthritis 1
HP:0001394 Cirrhosis 1
HP:0001399 Hepatic failure 1
HP:0001708 Right ventricular failure 1
HP:0001746 Asplenia 1
HP:0001882 Leukopenia 1
HP:0001907 Thromboembolism 1
HP:0002027 Abdominal pain 1
HP:0002090 Pneumonia 1
HP:0002098 Respiratory distress 1
HP:0002204 Pulmonary embolism 1
HP:0002205 Recurrent respiratory infections 1
HP:0002239 Gastrointestinal hemorrhage 1
HP:0002249 Melena 1
HP:0002315 Headache 1
HP:0002527 Falls 1
HP:0002719 Recurrent infections 1
HP:0002721 Immunodeficiency 1
HP:0002878 Respiratory failure 1
HP:0002901 Hypocalcemia 1
HP:0002958 Immune dysregulation 1
HP:0002960 Autoimmunity 1
HP:0003080 Hydroxyprolinuria 1
HP:0003201 Rhabdomyolysis 1
HP:0003418 Back pain 1
HP:0004445 Elliptocytosis 1
HP:0005112 Abdominal aortic aneurysm 1
HP:0005180 Tricuspid regurgitation 1
HP:0005387 Combined immunodeficiency 1
HP:0005523 Lymphoproliferative disorder 1
HP:0006000 Ureteral obstruction 1
HP:0007199 Progressive spastic paraparesis 1
HP:0008940 Generalized lymphadenopathy 1
HP:0012109 Angle closure glaucoma 1
HP:0012138 Granulocytic hyperplasia 1
HP:0012378 Fatigue 1
HP:0012418 Hypoxemia 1
HP:0012578 Membranous nephropathy 1
HP:0012593 Nephrotic range proteinuria 1
HP:0025388 Thyroid nodule 1
HP:0025615 Abscess 1
HP:0030150 Plasmacytosis 1
HP:0030166 Night sweats 1
HP:0030242 Portal vein thrombosis 1
HP:0030666 Retinal neovascularization 1
HP:0030667 Peripheral retinal neovascularization 1
HP:0031047 Paraproteinemia 1
HP:0031625 Pseudoaneurysm 1
HP:0031864 Bacteremia 1
HP:0032061 Hypereosinophilia 1
HP:0032101 Unusual infection 1
HP:0100584 Endocarditis 1
HP:0100598 Pulmonary edema 1
HP:0100644 Melanonychia 1
HP:0100658 Cellulitis 1
HP:0100820 Glomerulopathy 1
HP:0200034 Papule 1
HP:0200036 Skin nodule 1
HP:0200084 Giant cell hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
JAK2 Janus kinase 2 3717
MPL MPL proto-oncogene, thrombopoietin receptor 4352
TET2 tet methylcytosine dioxygenase 2 54790
CALR calreticulin 811