Primary myelofibrosis
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- updated 19 Oct 2022:
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Primary myelofibrosis is a myeloproliferative neoplasm in which there is the replacement of bone marrow is replaced with collagenous connective tissue andresulting in progressive fibrosis. It is characterised by:
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 years 6. The estimated prevalence is ~1:100,000. There may be a slight male predilection12 .
Pathology
It is a chronic clonal stem cell disorder of neoplastic megakaryocytes and is considered a chronic BCR-ABL1 (breakpoint cluster region-Abelson murine leukaemia viral oncogene homologue 1)-negative myeloproliferative disorder 11.
Non-neoplastic fibroblasts produce collagen, which replaces normal bone marrow elements. ThisProgressive bone marrow fibrosis is athe result of ancollagen produced by non-neoplastic fibroblasts in response to inappropriate release of PDGF and TGF-ß from the neoplastic megakaryocytes 8.
Radiographic features
Most radiological features are a result of extramedullary haematopoiesis and seen in many systems.
General
Musculoskeletal
Abdominal
-
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
-
complications with splenomegaly 12
bleeding from thrombocytopenia (see case 8)
-
thromboembolic events
up to 10% of patients experience a thromboembolic event, most commonly venous thromboembolism
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
See also
-<p><strong>Primary myelofibrosis</strong> is a <a href="/articles/myeloproliferative-neoplasm-1">myeloproliferative neoplasm</a> in which there is the replacement of <a href="/articles/bone-marrow">bone marrow</a> with collagenous connective tissue and progressive fibrosis. It is characterised by:</p><ul>-<li><a href="/articles/extramedullary-haematopoiesis">extramedullary haematopoiesis</a></li>-<li>progressive <a href="/articles/splenomegaly">splenomegaly</a>-</li>-<li>anaemia</li>-<li>variable change in the number of granulocytes and platelets including <a title="thrombocytopenia" href="/articles/thrombocytopenia">thrombocytopenia</a>-</li>-</ul><h4>Epidemiology</h4><p>It usually affects the middle-aged to elderly, with a mean age of 60 years<sup> 6</sup>. The estimated prevalence is ~1:100,000. There may be a slight male predilection<sup>12</sup> .</p><h4>Pathology</h4><p>It a chronic clonal stem cell disorder and is considered a chronic BCR-ABL1 (breakpoint cluster region-Abelson murine leukaemia viral oncogene homologue 1)-negative myeloproliferative disorder <sup>11</sup>.</p><p>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 <sup>8</sup>.</p><h4>Radiographic features</h4><p>Most radiological features are a result of extramedullary haematopoiesis and seen in many systems.</p><h5>General</h5><ul><li><a href="/articles/lymph-node-enlargement">lymphadenopathy</a></li></ul><h5>Musculoskeletal</h5><ul><li>-<a href="/articles/osteosclerosis">osteosclerosis</a><ul>-<li>diffuse pattern</li>-<li>no bony architectural distortion</li>-<li>typical distribution:<ul>-<li>axial skeleton</li>-<li>ribs</li>-<li>proximal humerus and femur</li>- +<p><strong>Primary myelofibrosis</strong> is a <a href="/articles/myeloproliferative-neoplasm-1">myeloproliferative neoplasm</a> in which the <a href="/articles/bone-marrow">bone marrow</a> is replaced with collagenous connective tissue resulting in progressive fibrosis. It is characterised by:</p><ul>
- +<li><p><a href="/articles/extramedullary-haematopoiesis">extramedullary haematopoiesis</a></p></li>
- +<li><p>progressive <a href="/articles/splenomegaly">splenomegaly</a></p></li>
- +<li><p>anaemia</p></li>
- +<li><p>variable change in the number of granulocytes and platelets including <a href="/articles/thrombocytopenia" title="thrombocytopenia">thrombocytopenia</a></p></li>
- +</ul><h4>Epidemiology</h4><p>It usually affects the middle-aged to elderly, with a mean age of 60 years<sup> 6</sup>. The estimated prevalence is ~1:100,000. There may be a slight male predilection<sup>12</sup> .</p><h4>Pathology</h4><p>It is a chronic clonal stem cell disorder of neoplastic megakaryocytes and is considered a BCR-ABL1 (breakpoint cluster region-Abelson murine leukaemia viral oncogene homologue 1)-negative myeloproliferative disorder <sup>11</sup>.</p><p>Progressive bone marrow fibrosis is the result of collagen produced by non-neoplastic fibroblasts in response to inappropriate release of PDGF and TGF-ß from the neoplastic megakaryocytes <sup>8</sup>.</p><h4>Radiographic features</h4><p>Most radiological features are a result of extramedullary haematopoiesis and seen in many systems.</p><h5>General</h5><ul><li><p><a href="/articles/lymph-node-enlargement">lymphadenopathy</a></p></li></ul><h5>Musculoskeletal</h5><ul><li>
- +<p><a href="/articles/osteosclerosis">osteosclerosis</a></p>
- +<ul>
- +<li><p>diffuse pattern</p></li>
- +<li><p>no bony architectural distortion</p></li>
- +<li>
- +<p>typical distribution:</p>
- +<ul>
- +<li><p>axial skeleton</p></li>
- +<li><p>ribs</p></li>
- +<li><p>proximal humerus and femur</p></li>
-<li>-<a href="/articles/bone-scintigraphy-1">bone scan</a> may give "<a href="/articles/superscan">superscan</a>" appearance</li>- +<li><p><a href="/articles/bone-scintigraphy-1">bone scan</a> may give "<a href="/articles/superscan">superscan</a>" appearance</p></li>
-<li><a href="/articles/hepatomegaly">hepatomegaly</a></li>- +<li><p><a href="/articles/hepatomegaly">hepatomegaly</a></p></li>
-<a href="/articles/splenomegaly">splenomegaly</a>: can be massive<ul><li>some patients may also experience <a href="/articles/splenic-infarction">splenic infarcts</a> <sup>11</sup>-</li></ul>- +<p><a href="/articles/splenomegaly">splenomegaly</a>: can be massive</p>
- +<ul><li><p>some patients may also experience <a href="/articles/splenic-infarction">splenic infarcts</a> <sup>11</sup></p></li></ul>
-<li>evidence of <a href="/articles/portal-hypertension">portal hypertension</a> <sup>3</sup><ul>-<li>from increased splenic blood flow</li>-<li>from portal flow obstruction from the sinusoidal haematopoietic proliferation</li>- +<li>
- +<p>evidence of <a href="/articles/portal-hypertension">portal hypertension</a> <sup>3</sup></p>
- +<ul>
- +<li><p>from increased splenic blood flow</p></li>
- +<li><p>from portal flow obstruction from the sinusoidal haematopoietic proliferation</p></li>
-</ul><h5>Cardiovascular</h5><ul><li>may show evidence of <a href="/articles/congestive-cardiac-failure">congestive </a><a href="/articles/heart-failure-summary">cardiac failure</a> due to anaemia <sup>3</sup>-</li></ul><h4>Treatment and prognosis</h4><p>Prognosis is poor, with slow progression and death usually within 2-3 years. It can also transform into <a href="/articles/acute-myeloid-leukaemia">acute myeloid leukaemia</a> in a small number of patients <sup>10</sup>.</p><h5>Complications</h5><ul>- +</ul><h5>Cardiovascular</h5><ul><li><p>may show evidence of <a href="/articles/congestive-cardiac-failure">congestive </a><a href="/articles/heart-failure-summary">cardiac failure</a> due to anaemia <sup>3</sup></p></li></ul><h4>Treatment and prognosis</h4><p>Prognosis is poor, with slow progression and death usually within 2-3 years. It can also transform into <a href="/articles/acute-myeloid-leukaemia">acute myeloid leukaemia</a> in a small number of patients <sup>10</sup>.</p><h5>Complications</h5><ul>
- +<li><p><a href="/articles/gout">gout</a>: from hyperuricaemia due to increased haematopoietic turnover</p></li>
-<a href="/articles/gout">gout</a>: from hyperuricaemia due to increased haematopoietic turnover</li>-<li>complications with splenomegaly <sup>12</sup><ul>-<li><a title="splenic infarction" href="/articles/splenic-infarction">splenic infarction</a></li>-<li><a title="splanchnic vein thrombosis" href="/articles/splanchnic-vein-thrombosis">splanchnic vein thrombosis</a></li>-<li><a title="portal hypertension" href="/articles/portal-hypertension">portal hypertension</a></li>-<li>mass effect symptoms </li>-<li>-<a href="/articles/spontaneous-splenic-rupture">splenic rupture</a> (rare) <sup>9</sup>-</li>- +<p>complications with splenomegaly <sup>12</sup></p>
- +<ul>
- +<li><p><a href="/articles/splenic-infarction" title="splenic infarction">splenic infarction</a></p></li>
- +<li><p><a href="/articles/splanchnic-vein-thrombosis" title="splanchnic vein thrombosis">splanchnic vein thrombosis</a></p></li>
- +<li><p><a href="/articles/portal-hypertension" title="portal hypertension">portal hypertension</a></p></li>
- +<li><p>mass effect symptoms</p></li>
- +<li><p><a href="/articles/spontaneous-splenic-rupture">splenic rupture</a> (rare) <sup>9</sup></p></li>
-<li>bleeding from thrombocytopenia (see case 8)</li>-<li>thromboembolic events<ul><li>up to 10% of patients experience a thromboembolic event, most commonly venous thromboembolism </li></ul>- +<li><p>bleeding from thrombocytopenia (see case 8)</p></li>
- +<li>
- +<p>thromboembolic events</p>
- +<ul><li><p>up to 10% of patients experience a thromboembolic event, most commonly venous thromboembolism</p></li></ul>
-<li>for musculoskeletal manifestations: consider the <a href="/articles/diffuse-bony-sclerosis-mnemonic">differential diagnosis of diffuse bony sclerosis</a>-</li>-<li>for splenic manifestations: consider <a href="/articles/splenomegaly">differential diagnosis for splenomegaly</a>-</li>-</ul><h4>See also</h4><ul><li><a href="/articles/who-classification-of-tumours-of-haematopoietic-and-lymphoid-tissues-1">WHO classification of tumours of haematopoietic and lymphoid tissues</a></li></ul>- +<li><p>for musculoskeletal manifestations: consider the <a href="/articles/diffuse-bony-sclerosis-mnemonic">differential diagnosis of diffuse bony sclerosis</a></p></li>
- +<li><p>for splenic manifestations: consider <a href="/articles/splenomegaly">differential diagnosis for splenomegaly</a></p></li>
- +</ul><h4>See also</h4><ul><li><p><a href="/articles/who-classification-of-haematolymphoid-tumours">WHO classification of tumours of haematopoietic and lymphoid tissues</a></p></li></ul>
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