Materiały źródłowe

• #1 Myelofibrosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/myelofibrosis/diagnosis-treatment/drc-20355062

  Myelofibrosis diagnosis often starts with a physical exam. Other tests that can help diagnose this bone marrow cancer include blood tests and imaging tests. A healthcare professional may take a sample of your bone marrow for testing. […] A healthcare professional might take a sample of blood for testing. One blood test used for myelofibrosis is a complete blood count. This test counts the number of cells in a sample of blood. In people with myelofibrosis, this test often finds low numbers of red blood cells. White blood cell and platelet counts may be higher or lower than expected. […] Imaging tests make pictures of the inside of the body. For myelofibrosis, a healthcare professional might use the pictures to see whether the spleen and liver are larger than usual. They also may look for signs that scar tissue has replaced healthy tissue in the bone marrow. Imaging tests might include computerized tomography scans, also called CT scans, and magnetic resonance imaging scans, also called MRI scans.

• #2 Myelofibrosis: Symptoms, Types, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/15672-myelofibrosis

  Myelofibrosis is a rare blood cancer where scar tissue forms in your bone marrow. […] A healthcare provider (oncologist) will perform a physical exam and ask about your medical history, including any symptoms you’re experiencing. They’ll check for signs of an enlarged spleen and anemia. […] They’ll perform various tests to rule out other conditions and confirm your diagnosis. […] Complete blood count (CBC): This test measures your number of blood cells. A lower than normal number of red blood cells and abnormal amounts of white blood cells and platelets may suggest myelofibrosis. […] Peripheral blood smear (PBS): This test shows if your blood cells are abnormal in size, shape or other features. Abnormal-looking cells and large numbers of immature blood cells may be a sign of myelofibrosis.

• #3 https://www.lls.org/myeloproliferative-neoplasms/myelofibrosis/diagnosis

  https://www.lls.org/myeloproliferative-neoplasms/myelofibrosis/diagnosis

  While certain signs and symptoms may indicate that a person has MF, a series of tests are needed to confirm the diagnosis. […] It is important to have an accurate diagnosis, as it helps the doctor to: […] Evaluation of an individual with suspected MF should start with a detailed medical history and a physical examination. […] Your doctor tests your bone marrow to help confirm a diagnosis. […] A pathologist studies the samples under the microscope and examines the chromosomes inside the cells. This is necessary to differentiate MF from other MPNs. […] These tests look for abnormal changes in the genes, chromosomes, proteins or other molecules within the patients cancer cells. They are used for diagnosis and treatment planning. […] According to the 2016 World Health Organization criteria for diagnosing primary MF, a diagnosis requires all 3 major criteria + at least 1 minor criteria.

• #4 Myelofibrosis (MF) Disease | MPN Connect

  https://www.mpnconnect.com/myelofibrosis-mf

  In a study of 1054 patients with primary MF, approximately 90% of patients for whom data were available had palpable splenomegaly at diagnosis. […] Due to this high rate of splenomegaly at diagnosis, Naveen Pemmaraju, MD, performs spleen assessment at baseline and consistently throughout management as part of his patient care. […] Splenomegaly is an important clinical indicator in patients with MF. And in my practice, I find that spleen assessment can be a powerful tool to help monitor disease progression. […] For this reason, I always palpate the spleen when evaluating my patients at diagnosis, as recommended by the NCCN Guidelines. […] Another reason to actively assess the spleen in our patients is that a growing spleen indicates the patients MF may be worsening. […] Assessing the spleen at diagnosis and routinely during follow up allows longitudinal tracking of your patients disease progression. I believe incorporating routine spleen assessment can help improve care for my patients with MF.

• #5 Myelofibrosis – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/1132

  Myelofibrosis is a reactive and reversible process common to many malignant and benign bone marrow disorders. It can present de novo as primary myelofibrosis (PMF), or as secondary (reactive) myelofibrosis if caused by another disorder, drug treatment, or toxic agent. […] This topic focuses on the diagnosis and management of primary myelofibrosis. […] Key diagnostic factors include history of radiation exposure, history of industrial solvents exposure, symptoms of anemia (fatigue, weakness, dyspnea, palpitations), constitutional symptoms (weight loss, night sweats, low-grade fever, cachexia, fatigue, and pruritus), splenomegaly hepatomegaly, and features of extramedullary hematopoiesis. […] 1st tests to order include CBC with differential, peripheral blood smear, bone marrow aspiration, bone marrow biopsy, fluorescence in situ hybridization (FISH) or multiplex reverse transcriptase PCR, and genetic mutation analysis.

• #6 Tests and treatment for myelofibrosis | Cancer Research UK

  https://www.cancerresearchuk.org/about-cancer/myelofibrosis/tests-treatment

  To find out if you have myelofibrosis your doctor will do several tests. […] The first test to diagnose myelofibrosis is usually a blood test called a full blood count. […] You might also have blood tests to look for gene changes. […] Other tests you might have to help diagnose myelofibrosis include: a bone marrow aspirate or biopsy, an ultrasound scan of your tummy (abdomen) – to check the size of your spleen and liver, an MRI scan, a CT scan. […] Your doctor might arrange for you to have other blood tests or scans if they need more information to confirm a diagnosis. […] At diagnosis, your risk group depends on: your white blood cell levels – a high one is higher risk, your haemoglobin – less than 100g/L is a higher risk, the number of blasts (immature blood cells) in your blood, your symptoms – for example if you have weight loss or sweats, your age – if you are over 65 years you are higher risk.

• #7 Identifying a Diagnosis of Myelofibrosis

  https://www.targetedonc.com/view/identifying-a-diagnosis-of-myelofibrosis

  So, the second criteria then are to rule out other myeloproliferative neoplasms and other myeloid malignancies. And the third is to find some evidence of clonality. Now in 90% of patients, there will be mutation inJAK2, the V617F, as in this patient, or in calreticulin, orCALR, or inMPL. Those are the 3 genes that are most commonly mutated in myelofibrosis. […] If you donrsquo;t find evidence of clonality based on the mutation analysis, then you have to be certain to rule out all of the reactive causes of myelofibrosis. You have to have all 3 of those major criteria: megakaryocytic hyperplasia and atypia, the ruling out of other myeloid malignancies, and finally, evidence of clonality by mutational analysis, or at least ruling out other reactive cause of myelofibrosis. […] There are 5 minor criteria, you only have to have 1 of those: a leukocytosis with a white count over 11,000so, itrsquo;s different than the staging systemmdash;anemia hemoglobin under 10, elevated LDH, splenomegaly, and the final one is a leucoerythroblastic picturemdash;immature white cells, nuclei red blood cells, teardrop cells, and giant platelets. Those are things that you might see in a patient in the peripheral blood of a patient with primary myelofibrosis.

• #8 What Is Myelofibrosis? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/leukemia/what-is-myelofibrosis-symptoms-causes-diagnosis-treatment-and-prevention/

  As with most cancers, getting an accurate and prompt diagnosis is important so you can start treatment when myelofibrosis is in its earlier stages. […] Your doctor will likely order several tests and procedures to help determine if you have myelofibrosis. These may include: […] Physical Exam This is done to check your vital signs (body temperature, pulse rate, respiration rate, and blood pressure) and examine your lymph nodes, spleen, and abdomen. […] Blood Tests These can reveal if you have an abnormal level of platelets, red blood cells, or white blood cells. Certain blood tests also check for elevated levels of uric acid, lactic dehydrogenase, and bilirubin, which may indicate myelofibrosis. […] Imaging Tests X-rays and magnetic resonance imaging (MRI) may be performed to help doctors learn more about your condition. Additionally, doctors may order an ultrasound to check if your spleen is enlarged.

• #9 Myelofibrosis laboratory tests – wikidoc

  https://www.wikidoc.org/index.php/Myelofibrosis_laboratory_tests

  Peripheral blood smear and bone marrow examination helps in making the diagnosis of myelofibrosis. Various tests performed to aid in reaching the diagnosis include complete blood count, peripheral blood smear and bone marrow examination, comprehensive metabolic panel, and leukocyte alkaline phosphatase (LAP) test. Laboratory findings consistent with the diagnosis of myelofibrosis include decreased red blood cells, normochromic normocytic anemia, tear-drop shaped RBCs, thrombocytopenia, and raised levels of lactate dehydrogenase. […] Decreased red blood cells […] Normochromic normocytic anemia […] Tear-drop shaped red blood cells (RBCs) […] Thrombocytopenia […] Raised leukocyte alkaline phosphatase score […] Elevated serum lactate dehydrogenase (LDH) […] Elevated lactic acid level […] Elevated uric acid […] Prolongation of prothrombin time (PT).

• #10 Primary Myelofibrosis (PMF) – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/primary-myelofibrosis-pmf

  Primary myelofibrosis (PMF) is a chronic myeloproliferative neoplasm characterized by bone marrow fibrosis, splenomegaly, and anemia with nucleated and teardrop-shaped red blood cells. Diagnosis requires bone marrow aspirate and biopsy and exclusion of other conditions that can cause myelofibrosis (secondary myelofibrosis). […] Primary myelofibrosis should be suspected in patients with some combination of splenomegaly, splenic infarction, and unexplained anemia. If the disorder is suspected, CBC should be done and peripheral blood morphology and a bone marrow biopsy should be examined. If myelofibrosis is present on bone marrow aspirate and biopsy (as detected by reticulin staining or trichrome staining, indicating excess collagen and osteosclerosis), other disorders associated with myelofibrosis (see table Conditions Associated With Myelofibrosis) should be excluded by appropriate clinical and laboratory evaluation.

• #11 Myelofibrosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/myelofibrosis/diagnosis-treatment/drc-20355062

  In a bone marrow aspiration, a healthcare professional uses a thin needle to remove a small amount of liquid bone marrow. It is usually taken from a spot in the back of the hip bone, also called the pelvis. A bone marrow biopsy is often done at the same time. This second procedure removes a small piece of bone tissue and the enclosed marrow. […] In people with myelofibrosis, this test might find signs of scarring in the bone marrow. […] If concerning cells are found in the blood or bone marrow, these cells might be tested for changes in the DNA inside the cells. The genetic changes found in the DNA of your cancer cells can help your healthcare team make a diagnosis. The changes also might help your healthcare team make a treatment plan. […] The genetic changes that are most common in myelofibrosis cells are called JAK2, CALR and MPL.

• #12 Primary Myelofibrosis Workup: Approach Considerations, Complete Blood Count, Imaging Studies

  https://emedicine.medscape.com/article/197954-workup

  Bone marrow aspirates are dry in up to 50% of patients with primary myelofibrosis. Performing a bone marrow biopsy is essential for confirming the diagnosis. Biopsy specimens reveal hypercellular marrow with increased megakaryocytes. […] Characteristic features of primary myelofibrosis include patchy hematopoietic cellularity and reticular fibrosis. The amount of reticulin deposition varies from field to field. Megakaryocytes may be present in clusters and may show dysplasia.

• #13 Primary myelofibrosis – Leukaemia Foundation

  https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/myeloproliferative-neoplasms/primary-myelofibrosis/

  Primary myelofibrosis is diagnosed using a combination of a physical examination showing the presence of an enlarged spleen, blood tests and a bone marrow examination. Primary myelofibrosis is only diagnosed when other causes of marrow fibrosis (including leukaemia, lymphoma, other types of cancer that have spread to the bone marrow) have been ruled out. […] People with primary myelofibrosis commonly present with varying degrees of anaemia. When examined under the microscope the red cells are often described as being ‘teardrop-shaped’. Higher than normal numbers of white cells and platelets may be found in the early stages of this disorder, but low white cell and platelet counts are common in more advanced disease. […] It is frequently impossible to obtain any samples of bone marrow fluid using a needle and syringe (bone marrow aspiration) due to marrow fibrosis. This is known as a ‘dry tap’. The bone marrow trephine biopsy typically shows abnormal fibrosis of the marrow cavity.

• #14 Primary Myelofibrosis Workup: Approach Considerations, Complete Blood Count, Imaging Studies

  https://emedicine.medscape.com/article/197954-workup

  In addition to the history and physical examination, National Comprehensive Cancer Network (NCCN) guidelines recommend the following workup for patients with suspected myeloproliferative neoplasms: […] A complete blood count (CBC) panel with careful examination of the peripheral smear is essential in patients thought to have primary myelofibrosis. […] Cytogenetic studies of bone marrow are helpful in excluding chronic myelogenous leukemia (CML), myelodysplastic syndrome, or other chronic myeloid disorders. However, these studies may be difficult to obtain due to „dry tap” on bone marrow aspirates in over 50% of patients with primary myelofibrosis. […] Obtaining bone marrow aspirate and biopsy specimens is important to help establish the diagnosis of primary myelofibrosis. This is usually performed over the posterior iliac crest, using specialized needles. Biopsy specimens should not be obtained from the sternum; sternal aspirates are typically not useful because of the high frequency of dry taps and the inability to obtain a biopsy from this site.

• #15 Identifying a Diagnosis of Myelofibrosis

  https://www.targetedonc.com/view/identifying-a-diagnosis-of-myelofibrosis

  This is a very typical case of primary myelofibrosis, and it brings us to the discussion of how exactly this is diagnosis made. Now you would think that seeing fibrosis in the marrow would make the diagnosis. That is clearly not the case. There are multiple things that can cause reactive fibrosis of the bone marrow: other malignancies, carcinomas, hairy cell leukemia lymphomas, infections and granuloma in this disease, drug reactions can do it. Even autoimmune disease has been associated with an autoimmune myelofibrosis. And so, the mere fact that therersquo;s fibrosis doesnrsquo;t mean that the patient has primary myelofibrosis. […] In fact, morphologically what the pathologists hang their hat on in terms of this diagnosis is the megakaryocytic hyperplasia and atypia with hyperchromatic, very folded and low-beta nuclei, and the clustering of those megakaryocytes. Itrsquo;s really the megakaryocytic abnormalities that lead to the consideration of myelofibrosis as the diagnosis.

• #16 Myelofibrosis: Symptoms, Types, Prognosis & Treatment

  https://my.clevelandclinic.org/health/diseases/15672-myelofibrosis

  Bone marrow biopsy: This test removes a sample of bone marrow that your provider examines underneath a microscope. They’ll analyze the cells to confirm you have myelofibrosis. […] Gene mutation analysis: Your healthcare provider will examine blood and bone marrow cells to check for the genetic mutations associated with myelofibrosis, including JAK2, CALR and MPL. […] You don’t need treatment unless you’re experiencing symptoms. Still, your healthcare provider will monitor your condition even if you don’t require immediate treatment. […] Jakafi (ruxolitinib), Inrebic (fedratinib) and Vonjo (pacritinib) are U.S. Food and Drug Administration (FDA)-approved drugs for treating intermediate or high-risk myelofibrosis. […] Allogeneic hematopoietic cell transplantation (HCT) is a potential cure, but it’s a risky procedure that may not be an option for everyone. […] Myelofibrosis is aggressive cancer with a median survival rate of six years. […] Talk with your provider about what your diagnosis means for your experience of the disease.

• #17 Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/36680511/

  Diagnosis: Bone marrow examination with cytogenetic and mutation studies provides integrated diagnostic information; presence of JAK2, CALR or MPL mutation is expected but not required. […] New classification system: The International Consensus Classification distinguishes „prefibrotic” from „overtly fibrotic” PMF; the former might mimic essential thrombocythemia (ET) in its presentation. […] Risk stratification: Contemporary prognostic systems include GIPSS (genetically-inspired prognostic scoring system) and MIPSS70+ version 2.0 (MIPSSv2; mutation-and karyotype-enhanced international prognostic scoring system). GIPSS is based exclusively on mutations and karyotype; MIPSSv2 includes, in addition, clinical risk factors. […] Risk-adapted therapy: Observation alone is advised for MIPSSv2 „low” and „very low” risk disease (estimated 10-year survival 56%-92%); allogeneic hematopoietic stem cell transplant (AHSCT) is the preferred treatment of choice for „very high” and „high” risk disease (estimated 10-year survival 0-13%), as well as in carefully selected patients with intermediate-risk disease (estimated 10-year survival 30%).

• #18 Primary Myelofibrosis (PMF) – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/primary-myelofibrosis-pmf

  The diagnosis of primary myelofibrosis is confirmed by detecting a mutation in JAK2, CALR, or MPL. In some cases, none of these mutations is expressed (triple-negative myelofibrosis). A broader next-generation sequencing panel may detect gene mutations associated with increased risk of leukemic transformation and may therefore be useful for prognosis. […] Diagnose with blood count, examination of peripheral blood smear and bone marrow, and molecular testing for JAK2, MPL, and/or CALR mutations.

• #19 Diagnosis of Primary Myelofibrosis: World Health Organization (WHO) Criteria

  https://www.labce.com/spg2285536_diagnosis_of_primary_myelofibrosis_world_health_or.aspx?srsltid=AfmBOopFsCLXsFIc_qw43AuoFpmndlo1EAmWdVv5Y1BK0aG7AcpPJk-9

  The proposed WHO criteria for the diagnosis of primary myelofibrosis requires all three of the major criteria and at least two of the minor criteria listed below: […] Major Criteria […] Demonstration of JAK2(V617F) or another clonal marker; or, in the absence of a clonal marker, no evidence of bone marrow fibrosis caused by an underlying inflammatory disease or another neoplastic disease […] About 60% of patients with Primary Myelofibrosis carry a JAK2(V617F) mutation, and about 5% to 10% of the patients have activating mutations in the thrombopoietin receptor gene, MPL […] Almost 90% of the patients without JAK2(V617F) or MPL carry a somatic mutation of the calreticulin (CALR) gene, which is associated with a more indolent clinical course than is seen with JAK2(V617F) or MPL mutations.

• #20 Initial evaluation of a patient with MF should include cytogenetics if obtainable and formal assessment of international prognostic score | Research To Practice

  https://www.researchtopractice.com/index.php?q=Myelofibrosis14/Commentary2

  Initial evaluation of a patient with MF should include cytogenetics if obtainable and formal assessment of international prognostic score. […] I estimate that the diagnosis of myelofibrosis is missed about 10% to 20% of the time in community practice. […] In the diagnosis of myelofibrosis, a bone marrow biopsy is needed. […] Cytogenetic analysis is important in this disease as in other myeloid disorders. […] It is frequently difficult for individuals with myelofibrosis to produce sufficient starting material to obtain a karyotype in the laboratory. […] We must always rule out secondary forms of myelofibrosis, such as chronic myelogenous leukemia with fibrosis in the bone marrow. The presence of fibrosis does not mean the patient has myelofibrosis. […] Several criteria, major and minor, are to be considered. First you must rule out other causes. Always rule out chronic myelogenous leukemia. Analyze the cytogenetics. Once you come to the diagnosis of myelofibrosis, you should stage the disease.

• #21 Diagnosis and Risk Stratification of Myelofibrosis

  https://www.cancernetwork.com/view/diagnosis-and-risk-stratification-of-myelofibrosis

  The difficulties include not only the sampling of the bone marrow but also combining all this. Genetic testing on JAK2, calreticulin, or MPL is part of the diagnostic process. That may not be available. The sample may be poor, or the sensitivity of the test might not be there and you have triple-negative disease where youre confused. Is this really myelofibrosis? Perhaps its MDS [myelodysplastic syndromes] with fibrosis. Differential [diagnosis] comes in. Expertise certainly counts when you have questions about fulfilling the diagnostic criteria. […] Once youre done with diagnosis, you go to prognostication. You want to know who has a life expectancy of less than 5 years. Youd refer that patient to a transplanter to go through a transplant procedure if possible to save the patients life, because thats a justifiable procedure in that case. You would account for parameters, some of those that you got from the workup for diagnosis: degree of anemia, blasts in the blood, and symptoms. There are some others that would lead you to do more testing, NGS [next-generation sequencing] testing for the presence or absence of other nondriver mutations, including what I mentioned earlier about cytogenetic chromosomal analysis into prognostication.

• #22 Myelofibrosis Diagnosis & Treatment – NYC | Herbert Irving Comprehensive Cancer Center (HICCC) – New York

  https://www.cancer.columbia.edu/cancer-types-care/types/rare-blood-disorders/conditions/myelofibrosis

  Imaging tests. Imaging tests, such as X-rays and magnetic resonance imaging (MRI), may be used to gather more information about your myelofibrosis. […] Bone marrow biopsy. A physician inserts a needle into the patients bone marrow at the hip to withdraw a sample of the bone marrow. This is examined under a microscope to determine the number and type of blood cells the body is producing. […] Genetic testing. A sample of blood or bone marrow may be taken then analyzed in a laboratory to look for gene mutations associated with myelofibrosis. More than 90% of patients will have a mutation in one of three genes: calretuculin (CALR), MPL, or JAK2.

• #23 Myelofibrosis: Diagnosis and Treatment | OncoLink

  https://es.oncolink.org/tipos-de-cancer/canceres-de-sangre/mielofibrosis/myelofibrosis-diagnosis-and-treatment

  If your provider thinks you may have myelofibrosis, they may order tests, like a bone marrow biopsy to look at your blood cells and molecular testing to look for gene mutations (changes) in the JAK2, CALR, and MPL genes. […] Myelofibrosis is not staged like other cancers. You must meet certain criteria to be diagnosed with myelofibrosis. The World Health Organization (WHO) has made criteria for diagnosing MF. You must meet all 3 major criteria and 1 minor criterion for diagnosis. The criteria for MF can be complex and hard to understand. Your provider will go over any of the criteria listed below that you may have: […] Major Criteria: A quick increase and an abnormality of megakaryocytes with either reticulin and/or collagen fibrosis grades 2 or 3 on a scale of 0-3. Not meeting WHO criteria for ET, PV, BCR-ABL1 positive chronic myelogenous leukemia, myelodysplastic syndromes, or other myeloid neoplasms. Having a JAK2, CALR, or MPL mutation. If you don’t have one of these mutations, you have another clonal marker or you don’t have reactive myelofibrosis.

• #24 Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33197049/

  Diagnosis: Bone marrow morphology is the primary basis for diagnosis. Presence of JAK2, CALR, or MPL mutation, expected in around 90% of the patients, is supportive but not essential for diagnosis; these mutations are also prevalent in the closely related MPNs, namely polycythemia vera (PV) and essential thrombocythemia (ET). […] The 2016 World Health Organization classification system distinguishes „prefibrotic” from „overtly fibrotic” PMF; the former might mimic ET in its presentation. Furthermore, approximately 15% of patients with ET or PV might progress into a PMF-like phenotype (post-ET/PV MF) during their clinical course.

• #25 Primary Myelofibrosis Differential Diagnoses

  https://emedicine.medscape.com/article/197954-differential

  The major criteria are as follows: Megakaryocyte proliferation and atypia accompanied by reticulin and/or collagen fibrosis or, in the absence of reticulin fibrosis, the megakaryocyte changes accompanied by increased marrow cellularity, granulocytic proliferation and often decreased erythropoiesis (ie, pre-fibrotic primary myelofibrosis). Not meeting WHO criteria for chronic myeloid leukemia, polycythemia vera, myelodysplastic syndrome, or other myeloid neoplasm. Demonstration of JAK2V617F or other clonal marker, or no evidence of reactive bone marrow fibrosis. […] Minor criteria are as follows: Leukoerythroblastosis, Elevated serum lactate dehydrogenase level, Anemia, Palpable splenomegaly. […] The International Working Group for Myeloproliferative Neoplasm Research and Treatment (IWG-MRT) has established diagnostic criteria for postpolycythemia vera myelofibrosis (PPV-MF) and postessential thrombocythaemia myelofibrosis (PET-MF). For both disorders, cases must meet the following two criteria: Documentation of a previous diagnosis of PV or PET, as defined by the 2008 WHO criteria. Bone marrow fibrosis grade 23 (on a 03 scale) or grade 34 (on a 04 scale).

• #26 Myelofibrosis: Diagnosis and Treatment | OncoLink

  https://es.oncolink.org/tipos-de-cancer/canceres-de-sangre/mielofibrosis/myelofibrosis-diagnosis-and-treatment

  Minor Criteria: Anemia (low red blood cell count) not caused by another health issue. Leukocytosis (higher than normal white blood cell count 11 x 10^9/L). Splenomegaly (enlarged spleen) that can be felt by your provider. Higher than normal LDH (lactate dehydrogenase) level in the blood. A higher level of this enzyme can be caused by injuries and some diseases. Leukoerythroblastosis (nucleated red blood cells and immature white blood cells).

• #27 Primary Myelofibrosis Diagnosis & Disease Information

  https://www.cancertherapyadvisor.com/ddi/primary-myelofibrosis/

  To receive a diagnosis of primary myelofibrosis, a patient must meet all 3 major criteria and at least 1 minor criterion as listed in the 2022 World Health Organization criteria or the International Consensus Classification (ICC) criteria; there is substantial overlap in these 2 sets of criteria. The ICC major criteria are as follows: Megakaryocyte proliferation and atypia, accompanied by grade 2 or greater reticulin/collagen fibrosis; Presence of JAK2, CALR, or MPL mutations, or presence of other clonal markers, or absence of evidence for reactive bone marrow fibrosis; and Not meeting ICC criteria for other myeloid neoplasms. […] The ICC minor criteria are as follows: Anemia not otherwise explained; Leukocytosis greater than or equal to 11 109/L; Palpable splenomegaly; Increased serum lactate dehydrogenase; and A leukoerythroblastic blood smear.

• #28 Primary Myelofibrosis Differential Diagnoses

  https://emedicine.medscape.com/article/197954-differential

  In addition, cases must meet at least two further criteria. For PVV-MF, the additional criteria are as follows: Anemia or sustained loss of requirement for phlebotomy in the absence of cytoreductive therapy, Leukoerythroblastic peripheral blood picture, Increasing splenomegaly – Either an increase in palpable splenomegaly of 5 cm from the left costal margin or the appearance of a newly palpable splenomegaly, Development of one or more constitutional symptoms (10% weight loss in 6 months, night sweats, unexplained fever 37.5C). […] For PET-MF, the additional criteria are as follows: Anemia and a decrease in hemoglobin level of 2 g/dL or more from baseline, Leukoerythroblastic peripheral blood picture, Increasing splenomegaly – Either an increase in palpable splenomegaly of 5 cm from the left costal margin or the appearance of a newly palpable splenomegaly, Development of more than one constitutional symptoms (10% weight loss in 6 months, night sweats, unexplained fever 37.5C), Increased lactate dehydrogenase concentration.

• #29 Primary Myelofibrosis Differential Diagnoses

  https://emedicine.medscape.com/article/197954-differential

  Primary myelofibrosis must be differentiated from conditions in which marrow fibrosis is a secondary development. For example, in patients with carcinoma or lymphoma, bone marrow involvement may be associated with marrow fibrosis, which reverses after effective treatment of the underlying disease. Similarly, in histoplasmosis and tuberculosis, marrow fibrosis may result in granulomatous involvement of the bone marrow. […] Performing testing for bcr:abl gene rearrangements is important to exclude chronic myelogenous leukemia (CML). JAK2V617F mutation can be detected in approximately 5060% of patients with primary myelofibrosis. […] World Health Organization diagnostic criteria for primary myelofibrosis include three major criteria and four minor criteria. Diagnosis requires meeting all three major criteria and at least two minor criteria.

• #30 Orphanet: Primary myelofibrosis

  https://www.orpha.net/en/disease/detail/824

  A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression. […] The diagnosis is based on the presence of major and minor criteria. It requires meeting all three major criteria, and at least one minor criterion. Major criteria include megakaryocytic proliferation and presence of reticulin and/or collagen fibrosis grades 2 or 3; the absence of other sign of blood and bone marrow cells proliferation and tumour (WHO classification); the mutations test for JAK2, CALR or MPL. Minor criteria include results of blood test for anemia with leukocytosis, increased LDH level and leukoerythroblastosis. […] Differential diagnosis of PMF includes other closely related myeloid neoplasms, such as chronic myeloid leukemia, essential thrombocythemia, polycythemia vera, myelodysplastic syndromes, chronic myelomonocytic leukemia, acute panmyelosis with myelofibrosis and acute megakaryoblastic leukemia.

• #31 Identifying a Diagnosis of Myelofibrosis

  https://www.targetedonc.com/view/identifying-a-diagnosis-of-myelofibrosis

  So, this is a challenging diagnosis. Patients with myeloid fibrosis, I truly believe their marrows need to be seen by hematopathologists who are experts in the diagnosis of myeloid neoplasms. Distinguishing the myeloproliferative neoplasms from each other pathologically is quite a challenge. Even grading the degree of fibrosis is something that is not tremendously well standardized, and there can be disagreements between pathologists. So, I do recommend getting a second opinion from a hematopathologist who specializes in myeloid malignancies.

• #32 Diagnosis and Risk Stratification of Myelofibrosis

  https://www.cancernetwork.com/view/diagnosis-and-risk-stratification-of-myelofibrosis

  There are a variety of prognostic scoring systems, 7 or 8 that are listed in the NCCN [National Comprehensive Cancer Network] guidelines, which you can apply for the patients youre looking at, depending on the results of the different tests you may have. The goal is to identify patients who will do worse than others, to refer them to transplant. […] At the first visit, the simpler, old-fashioned ones IPSS [International Prognostic Scoring System] or DIPSS [Dynamic IPSS] are the rule because theyre simpler in the sense that youll look at the blast, basically blood count symptoms, and you dont need to have extensive genetic testing or chromosomal analysis done at the first visit. You dont even have those results. When you do the testing at the subsequent visit, you may be more precise by incorporating more complex prognostic scoring systems with those genetic or karyotypic abnormalities to enhance your prediction of the future.

• #33 Review | Biology, diagnosis, and treatment of myelofibrosis up to date

  https://mpn-hub.com/medical-information/review-or-biology-diagnosis-and-treatment-of-myelofibrosis-up-to-date

  Recently, the British Journal of Haematology published a review on myelofibrosis by Naseema Gangat and Ayalew Tefferi from Mayo Clinic, Rochester, US. This article summarizes the key aspects of biological pathogenesis, their recommendations on the current management of the disease, and new therapies in clinical development. […] Clinical symptoms frequently observed at myelofibrosis diagnosis: Palpable splenomegaly in 72% of patients, Constitutional symptoms in 29% of cases: fatigue, night sweats, weight loss, or cachexia, Symptomatic or transfusion-dependent anemia in 33% of patients, Pruritus, Thrombosis, Hemorrhage, Recurrent infections. […] Several tools for myelofibrosis prognostic assessment have been developed, and the original publication reviews the evolution of the International Prognostic Scoring System (IPSS). This article will focus only on the current IPSSs recommended by the authors to identify patients with PMF for allogeneic transplant: the mutation and karyotype-enhanced IPSS for age 70 years (MIPSS70-plus version 2.0) and the genetically-inspired scoring system for all age groups (GIPSS).

• #34 Review | Biology, diagnosis, and treatment of myelofibrosis up to date

  https://mpn-hub.com/medical-information/review-or-biology-diagnosis-and-treatment-of-myelofibrosis-up-to-date

  Several drugs are currently available or in clinical development to palliate determinant symptoms or to slow disease progression. […] The approval of JAK2 inhibitors for patients with myelofibrosis had a considerable impact on the management of disease. However, patients still relapse after a median of 23 years on treatment, and outcome after relapse to ruxolitinib is poor. […] There have been remarkable advances made in the understanding of molecular and pathological processes involved in the development and progression of myelofibrosis. Ongoing research will help to elucidate those mechanisms further and identify future targets for the treatment of primary and secondary myelofibrosis and their disease-related complications. […] With the prognostic models used at present, it is possible to stratify patients with myelofibrosis according to their risk of progression and the urgency of treatment initiation. Currently, physicians can offer a curative goal to transplant-eligible patients only, and additional studies are needed to explore early intervention with novel therapies and allo-SCT, especially in high-risk patients.

• #35 What Is Myelofibrosis? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/leukemia/what-is-myelofibrosis-symptoms-causes-diagnosis-treatment-and-prevention/

  Bone Marrow Biopsy This involves using a small needle to remove a sample of bone marrow. Examining the sample under a microscope helps rule out or confirm a myelofibrosis diagnosis. […] Gene Mutation Tests Analyzing your blood or bone marrow for gene mutations, such as JAK2, MPL, or CALR, can assist in tailoring treatment options and assessing your prognosis. […] Hematologist-oncologists are experts who treat blood cancers, including myelofibrosis. […] Because myelofibrosis is rare, you may want to find a doctor who has experience with this specific type of blood cancer. […] It is really important to seek consultation with an expert who has a focus in this area of malignant hematology. Ideally, this person can work with your local hematologist to help provide a personalized treatment approach with the most up-to-date and cutting-edge therapies, says Mascarenhas.

• #36 Get Myelofibrosis Care | Cleveland Clinic

  https://my.clevelandclinic.org/services/myelofibrosis-treatment

  Your test results help us confirm your diagnosis and plan personalized treatment. We can also learn more about your risk for myelofibrosis progressing to AML. Once we understand your risk level, we can better plan your treatment. […] Diagnosing myelofibrosis isnt always simple. But if you have vague, unexplained symptoms or abnormal test results, its time to get expert help. Cleveland Clinic is at the forefront of the latest therapies for this condition. And we combine this leading-edge treatment with compassionate support so you can feel more like yourself again.

• #37 Myelofibrosis: Types, Symptoms, Causes, Diagnosis, Treatment and More

  https://www.health.com/myelofibrosis-8405280

  Diagnosing myelofibrosis involves a physical examination, medical history and symptom review, and diagnostic tests. […] Your healthcare provider will begin by asking about your symptoms, medical history, and family history. They will also want to know what medications you are taking. During the physical examination, your healthcare provider will listen to your heart and lungs and feel your stomach to determine if you have an enlarged spleen or liver, which can be a sign of myelofibrosis. […] They will also order diagnostic tests to rule out other conditions and confirm a myelofibrosis diagnosis. These tests may include: […] A CBC measures the number of red blood cells, white blood cells, platelets, and iron-rich proteins in the blood. People with MF often have low levels of red blood cells, and some have abnormally high or low numbers of white blood cells and platelets.

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