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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.
Myelofibrosis
MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
Replacement of bone marrow by fibrous tissue.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
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
Stockklausner C, Duffert CM, Cario H, Knöfler R, Streif W, Kulozik AE; THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH)
Ann Hematol 2021 Jul;100(7):1647-1665. Epub 2021 Mar 12 doi: 10.1007/s00277-021-04485-0. PMID: 33712866Free PMC Article
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049

Recent clinical studies

Etiology

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
Guglielmelli P, Lasho TL, Rotunno G, Mudireddy M, Mannarelli C, Nicolosi M, Pacilli A, Pardanani A, Rumi E, Rosti V, Hanson CA, Mannelli F, Ketterling RP, Gangat N, Rambaldi A, Passamonti F, Barosi G, Barbui T, Cazzola M, Vannucchi AM, Tefferi A
J Clin Oncol 2018 Feb 1;36(4):310-318. Epub 2017 Dec 9 doi: 10.1200/JCO.2017.76.4886. PMID: 29226763

Diagnosis

El-Sharkawy F, Margolskee E
Clin Lab Med 2021 Sep;41(3):529-540. doi: 10.1016/j.cll.2021.04.010. PMID: 34304780
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
Rumi E, Sant'Antonio E, Boveri E, Pietra D, Cavalloni C, Roncoroni E, Astori C, Arcaini L; Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators
Expert Rev Hematol 2018 Jul;11(7):537-545. Epub 2018 Jun 22 doi: 10.1080/17474086.2018.1484280. PMID: 29862872
Cervantes F, Dupriez B, Pereira A, Passamonti F, Reilly JT, Morra E, Vannucchi AM, Mesa RA, Demory JL, Barosi G, Rumi E, Tefferi A
Blood 2009 Mar 26;113(13):2895-901. Epub 2008 Nov 6 doi: 10.1182/blood-2008-07-170449. PMID: 18988864

Therapy

Verstovsek S, Gerds AT, Vannucchi AM, Al-Ali HK, Lavie D, Kuykendall AT, Grosicki S, Iurlo A, Goh YT, Lazaroiu MC, Egyed M, Fox ML, McLornan D, Perkins A, Yoon SS, Gupta V, Kiladjian JJ, Granacher N, Lee SE, Ocroteala L, Passamonti F, Harrison CN, Klencke BJ, Ro S, Donahue R, Kawashima J, Mesa R; MOMENTUM Study Investigators
Lancet 2023 Jan 28;401(10373):269-280. doi: 10.1016/S0140-6736(22)02036-0. PMID: 36709073
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
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

Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Moulard O, Mehta J, Fryzek J, Olivares R, Iqbal U, Mesa RA
Eur J Haematol 2014 Apr;92(4):289-97. Epub 2014 Feb 3 doi: 10.1111/ejh.12256. PMID: 24372927
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
Cervantes F, Dupriez B, Pereira A, Passamonti F, Reilly JT, Morra E, Vannucchi AM, Mesa RA, Demory JL, Barosi G, Rumi E, Tefferi A
Blood 2009 Mar 26;113(13):2895-901. Epub 2008 Nov 6 doi: 10.1182/blood-2008-07-170449. PMID: 18988864

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
Tefferi A, Pardanani A
JAMA Oncol 2015 Apr;1(1):97-105. doi: 10.1001/jamaoncol.2015.89. PMID: 26182311

Recent systematic reviews

Battukh N, Ali E, Yassin M
Acta Biomed 2022 Jan 19;92(6):e2021478. doi: 10.23750/abm.v92i6.12350. PMID: 35075062Free PMC Article
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

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