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Primary myelofibrosis

MedGen UID:
7929
Concept ID:
C0001815
Neoplastic Process
Synonyms: Myelofibrosis, somatic; Suspected idiopathic myelofibrosis
SNOMED CT: Myelofibrosis with myeloid metaplasia (128843003); Myelofibrosis as a result of myeloproliferative disease (128843003); Chronic idiopathic myelofibrosis (128843003); Agnogenic myeloid metaplasia (128843003); Myelosclerosis with myeloid metaplasia (128843003); Primary myelofibrosis (128843003); Primary myelofibrosis (307651005); Myelofibrosis with myeloid metaplasia (307651005); Myelosclerosis with myeloid metaplasia (307651005); Agnogenic myeloid metaplasia (52967002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): CALR (19p13.13); JAK2 (9p24.1); MPL (1p34.2); SH2B3 (12q24.12)
 
Monarch Initiative: MONDO:0009692
OMIM®: 254450
Orphanet: ORPHA824

Definition

Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.

Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising.

Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.

Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age. [from MedlinePlus Genetics]

Clinical features

From HPO
Myeloproliferative disorder
MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Myelofibrosis
MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
Replacement of bone marrow by fibrous tissue.
Extramedullary hematopoiesis
MedGen UID:
392862
Concept ID:
C2613439
Disease or Syndrome
The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Hemophagocytosis
MedGen UID:
163750
Concept ID:
C0876991
Disease or Syndrome
Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
Abnormally pale skin.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary myelofibrosis

Professional guidelines

PubMed

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Gangat N, Tefferi A
Br J Haematol 2020 Oct;191(2):152-170. Epub 2020 Mar 20 doi: 10.1111/bjh.16576. PMID: 32196650

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myeloproliferative Neoplasms, 2023

Recent clinical studies

Etiology

Keam SJ
Drugs 2023 Dec;83(18):1709-1715. doi: 10.1007/s40265-023-01964-8. PMID: 37989928
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Garmezy B, Schaefer JK, Mercer J, Talpaz M
Blood Rev 2021 Jan;45:100691. Epub 2020 Apr 7 doi: 10.1016/j.blre.2020.100691. PMID: 32354563
Gangat N, Tefferi A
Br J Haematol 2020 Oct;191(2):152-170. Epub 2020 Mar 20 doi: 10.1111/bjh.16576. PMID: 32196650

Diagnosis

Tremblay D, Mesa R
Curr Treat Options Oncol 2023 Feb;24(2):61-75. Epub 2023 Jan 14 doi: 10.1007/s11864-023-01052-9. PMID: 36640223
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Garmezy B, Schaefer JK, Mercer J, Talpaz M
Blood Rev 2021 Jan;45:100691. Epub 2020 Apr 7 doi: 10.1016/j.blre.2020.100691. PMID: 32354563
Tefferi A, Guglielmelli P, Pardanani A, Vannucchi AM
Blood Cancer J 2018 Jul 31;8(8):72. doi: 10.1038/s41408-018-0109-0. PMID: 30065290Free PMC Article
O'Sullivan JM, Harrison CN
Clin Adv Hematol Oncol 2018 Feb;16(2):121-131. PMID: 29741513

Therapy

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tremblay D, Mesa R
Future Oncol 2022 Jun;18(20):2559-2571. Epub 2022 May 23 doi: 10.2217/fon-2022-0276. PMID: 35603634
Chifotides HT, Bose P, Verstovsek S
J Hematol Oncol 2022 Jan 19;15(1):7. doi: 10.1186/s13045-021-01157-4. PMID: 35045875Free PMC Article
Harrison CN, Schaap N, Mesa RA
Ann Hematol 2020 Jun;99(6):1177-1191. Epub 2020 Mar 20 doi: 10.1007/s00277-020-04002-9. PMID: 32198525Free PMC Article
Mesa RA, Kiladjian JJ, Catalano JV, Devos T, Egyed M, Hellmann A, McLornan D, Shimoda K, Winton EF, Deng W, Dubowy RL, Maltzman JD, Cervantes F, Gotlib J
J Clin Oncol 2017 Dec 1;35(34):3844-3850. Epub 2017 Sep 20 doi: 10.1200/JCO.2017.73.4418. PMID: 28930494Free PMC Article

Prognosis

Pardanani A, Tefferi A, Masszi T, Mishchenko E, Drummond M, Jourdan E, Vannucchi A, Jurgutis M, Ribrag V, Rambaldi A, Koh LP, Rose S, Zhang J, Harrison C
Br J Haematol 2021 Oct;195(2):244-248. Epub 2021 Jul 30 doi: 10.1111/bjh.17727. PMID: 34331348Free PMC Article
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Passamonti F, Giorgino T, Mora B, Guglielmelli P, Rumi E, Maffioli M, Rambaldi A, Caramella M, Komrokji R, Gotlib J, Kiladjian JJ, Cervantes F, Devos T, Palandri F, De Stefano V, Ruggeri M, Silver RT, Benevolo G, Albano F, Caramazza D, Merli M, Pietra D, Casalone R, Rotunno G, Barbui T, Cazzola M, Vannucchi AM
Leukemia 2017 Dec;31(12):2726-2731. Epub 2017 May 31 doi: 10.1038/leu.2017.169. PMID: 28561069
Verstovsek S, Mesa RA, Gotlib J, Levy RS, Gupta V, DiPersio JF, Catalano JV, Deininger M, Miller C, Silver RT, Talpaz M, Winton EF, Harvey JH Jr, Arcasoy MO, Hexner E, Lyons RM, Paquette R, Raza A, Vaddi K, Erickson-Viitanen S, Koumenis IL, Sun W, Sandor V, Kantarjian HM
N Engl J Med 2012 Mar 1;366(9):799-807. doi: 10.1056/NEJMoa1110557. PMID: 22375971Free PMC Article
Harrison C, Kiladjian JJ, Al-Ali HK, Gisslinger H, Waltzman R, Stalbovskaya V, McQuitty M, Hunter DS, Levy R, Knoops L, Cervantes F, Vannucchi AM, Barbui T, Barosi G
N Engl J Med 2012 Mar 1;366(9):787-98. doi: 10.1056/NEJMoa1110556. PMID: 22375970

Clinical prediction guides

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Passamonti F, Mora B
Blood 2023 Apr 20;141(16):1954-1970. doi: 10.1182/blood.2022017423. PMID: 36416738Free PMC Article
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Gangat N, Tefferi A
Br J Haematol 2020 Oct;191(2):152-170. Epub 2020 Mar 20 doi: 10.1111/bjh.16576. PMID: 32196650
Mesa RA, Kiladjian JJ, Catalano JV, Devos T, Egyed M, Hellmann A, McLornan D, Shimoda K, Winton EF, Deng W, Dubowy RL, Maltzman JD, Cervantes F, Gotlib J
J Clin Oncol 2017 Dec 1;35(34):3844-3850. Epub 2017 Sep 20 doi: 10.1200/JCO.2017.73.4418. PMID: 28930494Free PMC Article

Recent systematic reviews

Bosi A, Barcellini W, Passamonti F, Fattizzo B
Blood Rev 2023 Nov;62:101132. Epub 2023 Sep 9 doi: 10.1016/j.blre.2023.101132. PMID: 37709654
Sureau L, Orvain C, Ianotto JC, Ugo V, Kiladjian JJ, Luque Paz D, Riou J
Blood Cancer J 2021 Jul 27;11(7):135. doi: 10.1038/s41408-021-00526-z. PMID: 34315858Free PMC Article
Bewersdorf JP, Giri S, Wang R, Podoltsev N, Williams RT, Rampal RK, Tallman MS, Zeidan AM, Stahl M
Clin Lymphoma Myeloma Leuk 2020 Oct;20(10):e712-e723. Epub 2020 May 28 doi: 10.1016/j.clml.2020.05.018. PMID: 32669244Free PMC Article
Cruz NM, Gergis U, Silver RT
Expert Rev Hematol 2020 Jan;13(1):71-84. Epub 2019 Nov 30 doi: 10.1080/17474086.2020.1691519. PMID: 31709843
Titmarsh GJ, Duncombe AS, McMullin MF, O'Rorke M, Mesa R, De Vocht F, Horan S, Fritschi L, Clarke M, Anderson LA
Am J Hematol 2014 Jun;89(6):581-7. doi: 10.1002/ajh.23690. PMID: 24971434

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myeloproliferative Neoplasms, 2023

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