Primary myelofibrosis

Changed by Jeremy Jones, 26 Sep 2021

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Primary myelofibrosis is a myeloproliferative neoplasm in which there is the replacement of bone marrow with collagenous connective tissue and progressive fibrosis. It is characterised by:

extramedullary hematopoiesis
progressive splenomegaly
anaemia
variable change in the number of granulocytes and platelets including thrombocytopenia

Epidemiology

It usually affects the middle-aged to elderly, with a mean age of 60 years⁶. The estimated prevalence is ~1:100,000.

Pathology

It is considered a chronic BCR-ABL1 (breakpoint cluster region-Abelson murine leukemia viral oncogene homologue 1)-negative myeloproliferative disorder ¹¹.

Non-neoplastic fibroblasts produce collagen, which replaces normal bone marrow elements. This bone marrow fibrosis is a result of an inappropriate release of PDGF and TGF-ß from neoplastic megakaryocytes ⁸.

Radiographic features

Most radiological features are a result of extramedullary haematopoiesis and seen in many systems.

General

lymphadenopathy

Musculoskeletal

osteosclerosis
- diffuse pattern
- no bony architectural distortion
- typical distribution:
  - axial skeleton
  - ribs
  - proximal humerus and femur
- bone scan may give "superscan" appearance

Abdominal

hepatomegaly
splenomegaly: can be massive
- some patients may also experience splenic infarcts ¹¹
evidence of portal hypertension ³
- from increased splenic blood flow
- from portal flow obstruction from the sinusoidal haematopoietic proliferation

Cardiovascular

may show evidence of congestive cardiac failure due to anaemia ³

Treatment and prognosis

Prognosis is poor, with slow progression and death usually within 2-3 years. It can also transform into acute myeloid leukaemia in a small number of patients ¹⁰.

Complications

gout: from hyperuricaemia due to increased haematopoietic turnover
splenic rupture (rare) ⁹
bleeding from thrombocytopenia (see case 8)

Differential diagnosis

General differential considerations include:

for musculoskeletal manifestations: consider the differential diagnosis of diffuse bony sclerosis
for splenic manifestations: consider differential diagnosis for splenomegaly

~~-<li>for musculoskeletal manifestations: consider the <a title="Diffuse bony sclerosis (mnemonic)" href="/articles/diffuse-bony-sclerosis-mnemonic">differential diagnosis of diffuse bony sclerosis</a>~~
+<li>for musculoskeletal manifestations: consider the <a href="/articles/diffuse-bony-sclerosis-mnemonic">differential diagnosis of diffuse bony sclerosis</a>

References changed:

1. Bond J. Musculoskeletal Case of the Day. Myelofibrosis. AJR Am J Roentgenol. 1993;160(6):1330. <a href="https://doi.org/10.2214/ajr.160.6.8498251">doi:10.2214/ajr.160.6.8498251</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/8498251">Pubmed</a>
2. Guermazi A, de Kerviler E, Cazals-Hatem D, Zagdanski A, Frija J. Imaging Findings in Patients with Myelofibrosis. Eur Radiol. 1999;9(7):1366-75. <a href="https://doi.org/10.1007/s003300050850">doi:10.1007/s003300050850</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/10460376">Pubmed</a>
3. Shaver R & Clore F. Extramedullary Hematopoiesis in Myeloid Metaplasia. AJR Am J Roentgenol. 1981;137(4):874-6. <a href="https://doi.org/10.2214/ajr.137.4.874">doi:10.2214/ajr.137.4.874</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/6974990">Pubmed</a>
4. Choi H, David C, Katz R, Podoloff D. Case 69: Extramedullary Hematopoiesis. Radiology. 2004;231(1):52-6. <a href="https://doi.org/10.1148/radiol.2311020673">doi:10.1148/radiol.2311020673</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/14990806">Pubmed</a>
5. Kaplan K, Mitchell D, Steiner R et al. Polycythemia Vera and Myelofibrosis: Correlation of MR Imaging, Clinical, and Laboratory Findings. Radiology. 1992;183(2):329-34. <a href="https://doi.org/10.1148/radiology.183.2.1561331">doi:10.1148/radiology.183.2.1561331</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/1561331">Pubmed</a>
6. Cloran F & Banks K. AJR Teaching File: Diffuse Osteosclerosis with Hepatosplenomegaly. AJR Am J Roentgenol. 2007;188(3 Suppl):S18-20. <a href="https://doi.org/10.2214/AJR.05.2141">doi:10.2214/AJR.05.2141</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/17312082">Pubmed</a>
7. Andy Adam (Editor), Adrian K. Dixon (Editor), Ronald G. Grainger (Editor) et al. Grainger & Allison's Diagnostic Radiology: 2-Volume Set (2 Vol Set). (2007) ISBN: 0443101639 - <a href="http://books.google.com/books?vid=ISBN0443101639">Google Books</a>
8. Vinay Kumar, Stanley Leonard Robbins, Abul K. Abbas et al. Robbins & Cotran Pathologic Basis of Disease, Seventh Edition. (2004) ISBN: 0721601871 - <a href="http://books.google.com/books?vid=ISBN0721601871">Google Books</a>
9. Saboo S, Krajewski K, O'Regan K et al. Spleen in Haematological Malignancies: Spectrum of Imaging Findings. Br J Radiol. 2012;85(1009):81-92. <a href="https://doi.org/10.1259/bjr/31542964">doi:10.1259/bjr/31542964</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/22096219">Pubmed</a>
10. Quintás-Cardama A, Kantarjian H, Pierce S, Cortes J, Verstovsek S. Prognostic Model to Identify Patients with Myelofibrosis at the Highest Risk of Transformation to Acute Myeloid Leukemia. Clin Lymphoma Myeloma Leuk. 2013;13(3):315-318.e2. <a href="https://doi.org/10.1016/j.clml.2013.01.001">doi:10.1016/j.clml.2013.01.001</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/23391717">Pubmed</a>
11. Mughal T, Vaddi K, Sarlis N, Verstovsek S. Myelofibrosis-Associated Complications: Pathogenesis, Clinical Manifestations, and Effects on Outcomes. Int J Gen Med. 2014;7:89-101. <a href="https://doi.org/10.2147/IJGM.S51800">doi:10.2147/IJGM.S51800</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/24501543">Pubmed</a>
1. Bond JR. Musculoskeletal case of the day. Myelofibrosis. AJR Am J Roentgenol. 1993;160 (6): 1330. <a href="http://www.ajronline.org/cgi/content/citation/160/6/1330">AJR Am J Roentgenol (citation)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/8498251">Pubmed citation</a><div class="ref_v2"></div>
2. Guermazi A, De kerviler E, Cazals-hatem D et-al. Imaging findings in patients with myelofibrosis. Eur Radiol. 1999;9 (7): 1366-75. <a href="http://link.springer.de/link/service/journals/00330/bibs/9009007/90091366.htm">Eur Radiol (link)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/10460376">Pubmed citation</a><div class="ref_v2"></div>
3. Shaver RW, Clore FC. Extramedullary hematopoiesis in myeloid metaplasia. AJR Am J Roentgenol. 1981;137 (4): 874-6. <a href="http://www.ajronline.org/cgi/content/citation/137/4/874">AJR Am J Roentgenol (citation)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/6974990">Pubmed citation</a><div class="ref_v2"></div>
4. Choi H, David CL, Katz RL et-al. Case 69: extramedullary hematopoiesis. Radiology. 2004;231 (1): 52-6. <a href="http://dx.doi.org/10.1148/radiol.2311020673">doi:10.1148/radiol.2311020673</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/14990806">Pubmed citation</a><div class="ref_v2"></div>
5. Kaplan KR, Mitchell DG, Steiner RM et-al. Polycythemia vera and myelofibrosis: correlation of MR imaging, clinical, and laboratory findings. Radiology. 1992;183 (2): 329-34. <a href="http://radiology.rsna.org/content/183/2/329.abstract">Radiology (abstract)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/1561331">Pubmed citation</a><div class="ref_v2"></div>
6. Cloran F, Banks KP. AJR teaching file: Diffuse osteosclerosis with hepatosplenomegaly. AJR Am J Roentgenol. 2007;188 (3): S18-20. <a href="http://dx.doi.org/10.2214/AJR.05.2141">doi:10.2214/AJR.05.2141</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/17312082">Pubmed citation</a><div class="ref_v2"></div>
7. Gillard J, Schaefer-Prokop. Grainger's and Allison's Diagnostic Radiology. Churchill Livingstone. (2008) ISBN:0443101639. <a href="http://books.google.com/books?vid=ISBN0443101639">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0443101639">Find it at Amazon</a><span class="ref_v3"></span>
8. Kumar V, Fausto N, Abbas A. Robbins and Cotran pathologic basis of disease. Saunders. ISBN:0721601871. <a href="http://books.google.com/books?vid=ISBN0721601871">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0721601871">Find it at Amazon</a><span class="auto"></span>
9. Saboo SS, Krajewski KM, O'Regan KN et-al. Spleen in haematological malignancies: spectrum of imaging findings. Br J Radiol. 2012;85 (1009): 81-92. <a href="http://dx.doi.org/10.1259/bjr/31542964">doi:10.1259/bjr/31542964</a> - <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3473934">Free text at pubmed</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/22096219">Pubmed citation</a><span class="auto"></span>
10. Quintás-Cardama A, Kantarjian H, Pierce S et-al. Prognostic model to identify patients with myelofibrosis at the highest risk of transformation to acute myeloid leukemia. Clin Lymphoma Myeloma Leuk. 2013;13 (3): 315-318.e2. <a href="http://dx.doi.org/10.1016/j.clml.2013.01.001">doi:10.1016/j.clml.2013.01.001</a> - <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901422">Free text at pubmed</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/23391717">Pubmed citation</a><span class="auto"></span>
11. Mughal TI, Vaddi K, Sarlis NJ, Verstovsek S. Myelofibrosis-associated complications: pathogenesis, clinical manifestations, and effects on outcomes. (2014) International journal of general medicine. 7: 89-101. <a href="https://doi.org/10.2147/IJGM.S51800">doi:10.2147/IJGM.S51800</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/24501543">Pubmed</a> <span class="ref_v4"></span>

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