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)
445
(5.0%)
8913726
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases.
Seghezzi L, Maserati E, Minelli A, Dellavecchia C, Addis P, Locatelli F, Angioni A, Balloni P, Miano C, Cavalli P, Danesino C, Pasquali F.
Genes Chromosomes Cancer. 1996;17(2):94-101.
Neoplasm
GSR LUZP4
Aspartic Acid Endopeptidases Child, Preschool Chromosomes, Human, Pair 8 Females Fibroblasts Glutathione Reductase Hematologic Neoplasms Homo sapiens Infant Malate Dehydrogenase Male Mosaicism Mutation Polymerase Chain Reaction Precursor Cell Lymphoblastic Leukemia Lymphoma Primary Myelofibrosis Trisomy
445
(5.0%)
8575594
Pulmonary fibrosis and sea-blue histiocyte infiltration in a patient with primary myelofibrosis.
Yamauchi K, Shimamura K.
Eur Respir J. 1995;8(9):1620-3.
Pulmonary fibrosis
Biopsy Fatal Outcome Homo sapiens Male Primary Myelofibrosis Pulmonary Fibrosis Sea-Blue Histiocyte Syndrome
445
(5.0%)
6847265
Arthritis due to synovial involvement by extramedullary haematopoiesis in myelofibrosis with myeloid metaplasia.
Heinicke MH, Zarrabi MH, Gorevic PD.
Ann Rheum Dis. 1983;42(2):196-200.
Arthritis
Arthritis Hematopoiesis Homo sapiens Male Middle Aged Primary Myelofibrosis Synovial Membrane
445
(5.0%)
6720738
Cutaneous extramedullary hematopoiesis following splenectomy for idiopathic myelofibrosis.
Hocking WG, Lazar GS, Lipsett JA, Busuttil RW.
Am J Med. 1984;76(5):956-8.
Cellulitis
Females Hematopoiesis Homo sapiens Male Middle Aged Primary Myelofibrosis Splenectomy
445
(5.0%)
6638012
Intracranial myeloid metaplasia: diagnosis by CT and Fe52 scans and treatment by cranial irradiation.
Cornfield DB, Shipkin P, Alavi A, Becker J, Peyster R.
Am J Hematol. 1983;15(3):273-8.
Dementia
Brain Brain Diseases Dementia Females Hepatomegaly Homo sapiens Iron Radioisotopes Middle Aged Primary Myelofibrosis Radionuclide Imaging Splenomegaly X-Ray Computed Tomography
445
(5.0%)
6131125
Agnogenic myeloid metaplasia with polyarteritis.
Connelly TJ, Abruzzo JL, Schwab RH.
J Rheumatol. 1982;9(6):954-6.
Arthritis
Females Homo sapiens Polyarteritis Nodosa Primary Myelofibrosis Radionuclide Imaging Skeleton Synovial Fluid
445
(5.0%)
441867
Agnogenic myeloid metaplasia and spinal cord compression.
Jacobs P, Dubovsky D, Commerford P, Price S, Handler L.
S Afr Med J. 1979;55(7):256-9.
Spinal cord compression
Homo sapiens Male Middle Aged Primary Myelofibrosis
        

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