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Stem cells can develop into many cell types and act as the body’s repair system. They replace or restore damaged tissues, offering new possibilities for treating diseases.
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Myelofibrosis is a rare, long-term blood cancer in the group of Myeloproliferative Neoplasms (MPNs). In this disease, the bone marrow’s normal, blood-forming tissue is replaced by scar tissue, a process called fibrosis. To understand how serious this is, it helps to know that healthy bone marrow is the main site for making red and white blood cells and platelets. This process, called hematopoiesis, depends on a network of support cells and signaling proteins that help stem cells grow and develop.
In myelofibrosis, this normal control system is disrupted. A genetic mutation in a single stem cell gives it an advantage, allowing it to multiply. Unlike other leukemias, where the main problem is too many cancer cells, myelofibrosis involves a complex interaction between these abnormal cells and the bone marrow environment. The abnormal stem cells, especially megakaryocytes (cells that make platelets), release too many inflammatory proteins and growth factors. These signals, such as TGF-beta and PDGF, attract fibroblasts, the cells that make collagen and connective tissue.
These signals cause fibroblasts to produce thick layers of collagen and reticulin fibers in the bone marrow. Over time, this scarring fills the marrow space and pushes out healthy stem cells. As the marrow becomes scarred and unable to make enough blood, the body tries to compensate by making blood in other organs, mainly the spleen and liver. This causes these organs to become very large, a key sign of the disease. Myelofibrosis is not just a cancer of blood cells, but a cancer that damages the environment where blood cells are made.
Our understanding of myelofibrosis has changed a lot over the last century. Gustav Heuck first described the disease in 1879 after seeing a patient with a very large spleen and abnormal bone marrow. In 1951, hematologist William Dameshek grouped myelofibrosis with Polycythemia Vera (PV) and Essential Thrombocythemia (ET) as “Myeloproliferative Disorders,” now called Myeloproliferative Neoplasms. Dameshek realized these diseases start from the same type of stem cell and can sometimes change from one to another.
For decades, the diagnosis was primarily morphological, based on what the cells looked like under a microscope. The classification was refined in the early 21st century with the discovery of specific driver mutations. The identification of the JAK2 V617F mutation in 2005 was a watershed moment in hematology. This discovery provided the first molecular proof that these diseases were driven by overactive signaling pathways that regulate cell growth. Subsequent discoveries of mutations in the CALR (calreticulin) and MPL (thrombopoietin receptor) genes further clarified the genetic landscape. Today, the World Health Organization (WHO) classification integrates clinical features, bone marrow histology, and genetic markers to define the disease precisely. This shift from a descriptive to a molecular definition has paved the way for targeted therapies and more precise indications for regenerative interventions, such as stem cell transplantation.
Myelofibrosis is both a cancer and a problem for regenerative medicine. The main issue is that scar tissue destroys the bone marrow, leading to organ failure. Bone marrow is an organ like the heart or kidneys, and in myelofibrosis, it gradually stops working. As a result, the main treatment goal is to replace the damaged tissue with healthy cells, following the principles of regenerative medicine.
Myelofibrosis is rare, affecting about 0.5 to 1.5 people per 100,000 each year worldwide. It mostly affects older adults, with the average age at diagnosis around 67, but younger people can get it too. The disease greatly affects quality of life and life expectancy because symptoms like severe tiredness, weight loss, and painful spleen enlargement are long-lasting and disabling.
Research into myelofibrosis carries implications far beyond the disease itself. The mechanisms of fibrosis observed in the bone marrow—driven by chronic inflammation and abnormal cellular signaling—parallel those in other organs, such as the liver (cirrhosis), lungs (pulmonary fibrosis), and kidneys. Therefore, myelofibrosis serves as a critical model for understanding how stem cells interact with their microenvironment and how aberrant signaling can lead to tissue scarring. Scientific advancements in treating myelofibrosis, particularly regarding JAK inhibitors and antifibrotic agents, often inform potential treatments for other fibrotic diseases. Furthermore, the success of stem cell transplantation in reversing marrow fibrosis provides a hopeful proof of principle that fibrotic tissue damage is not irreversible, fueling broader research into regenerative strategies for organ repair.
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Primary myelofibrosis occurs de novo, with no prior history of bone marrow problems. Secondary myelofibrosis develops in patients with a long-standing history of other blood cancers, specifically Polycythemia Vera or Essential Thrombocythemia, in which the marrow “burns out” and becomes scarred over time.
Yes, myelofibrosis is classified as a chronic leukemia. It is a cancer of the blood-forming cells. However, unlike acute leukemias, which are defined by the rapid growth of immature cells, myelofibrosis is characterized by marrow scarring and disruption of blood production, though it carries a risk of transforming into acute leukemia.
Because the bone marrow is filled with scar tissue and cannot produce enough blood cells, the body tries to compensate by increasing blood cell production. Stem cells migrate to the spleen and liver to establish new hematopoietic production sites, a process called extramedullary hematopoiesis. This abnormal workload causes the spleen to grow to massive sizes.
Historically, fibrosis was thought to be permanent. However, evidence from stem cell transplant recipients shows that if the defective stem cells are replaced with healthy donor cells, the fibrosis can gradually resolve, and the bone marrow structure can return to a near-normal state over time.
Genetics is the driver of the disease. Mutations in genes like JAK2, CALR, or MPL cause the signaling pathways in stem cells to become permanently “on,” leading to uncontrolled cell growth and cytokine release. Identifying these mutations is essential for confirming the diagnosis and assessing disease risk.
Myelofibrosis is a rare and serious bone marrow disease. It affects how the body makes blood cells. This condition is a type of myeloproliferative neoplasm.
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