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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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Diagnosing myelofibrosis requires a meticulous synthesis of clinical observations, microscopic pathology, and advanced molecular genetics. It is a diagnosis of inclusion, meaning specific criteria must be met, but also a diagnosis of exclusion, as other conditions (such as metastatic cancer, infections, or autoimmune disorders) can also cause marrow fibrosis. The evaluation must be comprehensive to distinguish Primary Myelofibrosis (PMF) from other Myeloproliferative Neoplasms (MPNs) and to accurately stage the severity of the fibrosis, as this directly impacts the transplant strategy.
Abnormalities often raise suspicion of myelofibrosis on routine Complete Blood Count (CBC) and peripheral blood smear examination.
The definitive diagnosis relies on examining the bone marrow architecture.
Modern diagnosis is incomplete without genetic profiling. The World Health Organization (WHO) criteria require the presence of a “driver mutation” or evidence of clonality.
Evaluating the extent of extramedullary disease is part of the workup.
Chromosomal analysis (karyotyping) is performed on the bone marrow cells (if obtainable) or peripheral blood.
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A dry tap occurs when the doctor inserts a needle into the bone to withdraw marrow, but no fluid comes out. In myelofibrosis, the marrow space is filled with scar tissue and fibers rather than the usual liquid, sponge-like material. This inability to aspirate fluid is a classic sign of the disease.
Teardrop cells, or dacrocytes, are red blood cells that have been misshapen into a droplet form. This happens because they are mechanically damaged as they try to squeeze through the fibrosis (scar tissue) in the bone marrow to enter the bloodstream. They are seen under a microscope and are a hallmark of marrow scarring.
Fibrosis can be caused by other conditions, such as infections, autoimmune diseases, or cancers that spread to the bone. Genetic testing (for JAK2, CALR, MPL) confirms that the fibrosis is caused by a primary blood cancer (myelofibrosis) and not a secondary reaction to another illness.
Triple Negative means the patient tests negative for the three most common driver mutations: JAK2, CALR, and MPL. These patients still have myelofibrosis, but other, less common mutations drive it. Triple-negative status is generally associated with a more aggressive disease course and a poorer prognosis.
Yes, a palpable spleen is a primary diagnostic criterion. While not every patient has an enlarged spleen, its presence, especially when combined with marrow fibrosis and genetic mutations, strongly supports the diagnosis. The size of the spleen also helps doctors track how well the treatment is working.
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