Materiały źródłowe

• #1 Polycythemia Vera: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17742-polycythemia-vera

  Polycythemia vera is a type of chronic leukemia (blood cancer) that causes your bone marrow to produce too many red blood cells. […] Polycythemia vera is a blood disorder that causes your body to produce too many red blood cells. […] Polycythemia vera is a type of blood cancer known as myeloproliferative neoplasm (MPN). […] Polycythemia vera is rare. It affects about 50 per 100,000 people in the U.S. […] The World Health Organization (WHO) requires three separate criteria to diagnose polycythemia vera: […] Red blood cells may be measured as: High hemoglobin count (protein found in red blood cells). […] The most common treatment for PV is to have regular blood withdrawals. […] The most significant threat from polycythemia vera isnt from cancer itself, but from the risk of blood clots.

• #1 How is Polycythemia Vera Diagnosed? | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-polycythemia-vera/how-polycythemia-vera-diagnosed

  Polycythemia vera (PV) may not cause signs or symptoms for years. The disease often is found during routine blood tests done for other reasons. If the results of your blood tests aren’t normal, your doctor may want to do more tests. […] Your doctor will diagnose PV based on your signs and symptoms, your age and overall health, your medical history, a physical exam, and test results. […] During the physical exam, your doctor will look for signs of PV. He or she will check for an enlarged spleen, red skin on your face, and bleeding from your gums. […] If your doctor confirms that you have polycythemia, the next step is to find out whether you have primary polycythemia (polycythemia vera) or secondary polycythemia. […] Your medical history and physical exam may confirm which type of polycythemia you have. If not, you may have tests that check the level of the hormone erythropoietin (EPO) in your blood.

• #1 Making a Differential Diagnosis of Polycythemia Vera

  https://www.onclive.com/view/making-a-differential-diagnosis-of-polycythemia-vera

  Polycythemia vera is diagnosed at a median age of roughly about 60 years. In most patients, it is actually diagnosed in an incidental fashion. Someone goes to their primary care physician or some other physician for a regular blood check and is found to have elevated hemoglobin or hematocrit. However, there is a fraction of patients who do present with disease-related symptoms. Now, these could be headaches, or visual disturbances, or pruritis. Or the more complicated ones, including, for example, thrombotic episodes or bleeding episodes. For example, in a large series of about 1,500 patients who had WHO [World Health Organization] defined polycythemia vera, almost a third of patients presented with palpable spleen, had pruritis, also had vasomotor symptoms like erythromelalgia. And in terms of thrombotic episodes, about 16% had an arterial thrombotic episode at the time or prior to their diagnosis. For venous thrombosis that incidence was 7%, and for major hemorrhagic episodes, it was 4%. But in addition to those symptoms, one should also know that elevated white blood cell count and platelet counts can also be present in polycythemia vera. Something on physical exam that we noticed is a facial platter, which is quite classic, but definitely not entirely specific to polycythemia vera. And erythromelalgia is something that we very well know at this point to be associated with polycythemia vera and essential thrombocytosis. Generally, it correlates with a platelet count of more than 400,000 at diagnosis.

• #1 How is Polycythemia Vera Diagnosed? | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-polycythemia-vera/how-polycythemia-vera-diagnosed

  People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. […] You may have blood tests to diagnose PV. These tests include a complete blood count (CBC) and other tests, if necessary. […] Often, the first test used to diagnose PV is a CBC. The CBC measures many parts of your blood. […] This test checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A high level of hemoglobin or hematocrit may be a sign of PV. […] The CBC also checks the number of red blood cells, white blood cells, and platelets in your blood. Abnormal results may be a sign of PV, a blood disorder, an infection, or another condition.

• #1 Polycythemia Vera: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/205114-overview

  Polycythemia vera (PV) is a stem cell disorder characterized as a panhyperplastic, malignant, and neoplastic marrow disorder. Its most prominent feature is an elevated absolute red blood cell mass because of uncontrolled red blood cell production. This is accompanied by increased white blood cell (myeloid) and platelet (megakaryocytic) production, which is due to an abnormal clone of the hematopoietic stem cells with increased sensitivity to the different growth factors for maturation. […] According to 2022 revised World Health Organization (WHO) guidelines, diagnosis of PV requires requires the presence of either all three major criteria or the first two major criteria and the minor criterion. […] Major WHO criteria are as follows: […] Hemoglobin 16.5g/dL in men and 16g/dL in women, or hematocrit 49% in men and 48% in women.

• #1 Polycythemia Vera – Diagnostic Criteria • The Blood Project

  https://www.thebloodproject.com/cases-archive/polycythemia-diagnostic-criteria/polycythemia-vera-diagnostic-criteria/

  WHO 2016 diagnostic criteria for polycythemia vera. The National Comprehensive Cancer Network (NCCN) and European LeukemiaNet (ELN) both recommend using the WHO 2016 diagnostic criteria for most accurate diagnosis. Hemoglobin thresholds for men and women were lowered in the 2016 revision to the WHO diagnostic criteria (16.5 g/dL for men or 16 g/dL for women) to include most cases of masked PV that were missed by the 2008 WHO criteria (18.5 g/dL for men and 16.5 g/dL for women). […] Polycythemia vera (PV) criteria were revised from the 2008 WHO criteria because “it is possibly underdiagnosed using the hemoglobin levels published in the fourth edition (2008 version), and the utility of BM morphology as a reproducible criterion for the diagnosis of PV is recognized.” […] The diagnostic criteria for PV have been refined to differentiate masked PV from ET (recognizing the utility of bone marrow biopsy in patients with hemoglobin levels <18.5 g/dL in men and <16.5 g/dL in women). [...] Thus, the major diagnostic criteria for PV have been refined to include hemoglobin levels (>16.5 g/dL in men and >16.0 g/dL in women) or hematocrit >49% in men and >48% in women and a bone marrow biopsy to confirm the age-matched hypercellularity.

• #1 How is Polycythemia Vera Diagnosed? | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-polycythemia-vera/how-polycythemia-vera-diagnosed

  In addition to high red blood cell counts, people who have PV also may have high white blood cell and/or platelet counts. […] A blood smear can show whether you have a higher than normal number of red blood cells. The test also can show abnormal blood cells that are linked to myelofibrosis and other conditions related to PV. […] This blood test measures the level of EPO in your blood. EPO is a hormone that prompts your bone marrow to make new blood cells. People who have PV have very low levels of EPO. People who have secondary polycythemia usually have normal or high levels of EPO. […] Bone marrow tests can show whether your bone marrow is healthy. These tests also show whether your bone marrow is making normal amounts of blood cells. […] If the tests show that your bone marrow is making too many blood cells, it may be a sign that you have PV.

• #1 Polycythemia Vera – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557660/

  Polycythemia vera is a myeloproliferative disorder associated with a Janus kinase-2 (JAK2) mutation that causes the neoplastic proliferation of the hematopoietic progenitor cells. […] This activity reviews the evaluation and treatment of polycythemia vera and highlights the role of the interprofessional team in improving care for patients with this condition. […] The diagnosis can be made if all three category A criteria are met, or if A1, A2, and two from category B are met. […] These criteria should only be applied for diagnosis after secondary causes of polycythemia have been ruled out. […] The average survival of untreated polycythemia vera (PV) is 18 months, whereas median survival is 14 years overall and 24 years if younger than 60 for those undergoing treatment. […] It is recommended that a hematologist be involved in the care of patients with polycythemia vera (PV). […] Early diagnosis and treatment of PV can increase survival by decreasing morbidity from disease complications.

• #1 Making a Differential Diagnosis of Polycythemia Vera

  https://www.onclive.com/view/making-a-differential-diagnosis-of-polycythemia-vera

  Now, in terms of the diagnostic approach, or testing for polycythemia vera, the clinicians generally tend to follow and try to meet the parameters, the criteria that are part of the WHO major and minor criteria. What that means is that we want to have a sustained hemoglobin of 16.5 for men or more than 16 for women. The numbers in terms of hematocrit are more than 49% for men or 48% for women. Thats one, in other words, sustained erythrocytosis. But also, erythropoietin level should be below the reference range. Turns out to be the minor criteria. These are usually the first set of labs. In addition, one should check for the JAK2 V617F mutation, or in the rare case that it is not present, the JAK2 exon 12 mutations. These could be done from either peripheral blood or from a bone marrow sample, and typically most next-generation sequencing panels have these. And last but not the least, as part of the diagnostic workup is the very important point about bone marrow biopsy. In a classic polycythemia vera case, they should show hypercellularity with panmyelosis. And also, pleomorphic, meaning different sized mature megakaryocytes. The JAK2 mutations, the classic one is V617F mutation found in about a 95% of polycythemia vera patients, while the exon 12 mutation is found in a very small fraction, maybe about 1% to 2%, or maybe around, depending on the series, slightly more percent of patients. But again, the vast majority have the JAK2 V617F mutation.

• #1 Polycythemia vera – Wikipedia

  https://en.wikipedia.org/wiki/Polycythemia_vera

  In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. […] Diagnostic criteria for polycythemia vera were modified by the World Health Organization in 2016. […] The WHO criteria for polycythemia vera are specifically outlined in Table 4, and emphasis is given to accurate histological observations as proven predictors in the prognosis of the disease. […] As summarized by Verstovek following the 2016 European Hematology Association Congress, there are 3 major criteria for PV diagnosis: The first is a very high red blood cell count, which is usually identified by elevated levels of hemoglobin or hematocrit; A bone marrow biopsy that shows hypercellularity and abnormalities in megakaryocytes; and The presence of a mutation in the Janus kinase 2 (JAK2) gene.

• #1 Polycythaemia vera (PV) | MLL

  https://www.mll.com/en/myeloproliferative-neoplasm-mpn/polycythaemia-vera-pv

  Based on the current guidelines and the current state of research, there are different diagnostic recommendations for patients with polycythemia vera. The clinical differentiation of polycythaemia vera within the myeloproliferative neoplasms is based, among other things, on the detection of clonal erythrocytosis according to the WHO classification 2022. Currently, however, there are no specific disease markers, molecular or otherwise, that unequivocally diagnose polycythemia vera, which is why a diagnosis should always be made on the basis of a combination of clinical and bone marrow histological findings. In addition to the collection of clinical and laboratory parameters, histological and cytomorphological examination of bone marrow and blood, cytogenetic analysis, and molecular genetic studies are recommended (JAK2 V617F mutation, if negative exon 12 of the JAK2 gene, if negative CALR and MPL and „non-driver” mutations should also be investigated).

• #1 Hematocrit Levels | HCT Blood Test For Blood Cancer | LLS

  https://www.lls.org/myeloproliferative-neoplasms/polycythemia-vera/diagnosis

  In PV, the bone marrow shows above-normal numbers of blood cells and an abnormal number of the platelet-forming cells called megakaryocytes in the bone marrow. […] These tests look for abnormal changes in the genes, chromosomes, proteins or other molecules within the patients cancer cells. […] If PV is suspected, testing for the JAK2 gene mutation should be performed. […] The JAK2 V617F mutation is found in more than 95 percent of PV patients. […] Diagnosis requires 3 major criteria OR 2 major criteria + 1 minor criterion. […] Very high red blood cell count, usually identified by either A, B, or C below: […] Bone marrow biopsy showing abnormally high numbers of blood cells in the bone marrow (called hypercellularity) based on the persons age. […] Presence of the JAK2V617F or JAK2 exon 12 gene mutation. […] Very low erythropoietin level.

• #1 Polycythemia vera | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/polycythaemia-vera?lang=us

  Polycythemia vera (older term: polycythemia rubra vera) is a myeloproliferative neoplasm that results in an excess of red blood cells in the bloodstream. […] Major WHO criteria are as follows: hemoglobin 16.5 g/dL in men and 16 g/dL in women, or hematocrit 49% in men and 48% in women, or red cell mass 25% above mean normal predicted value. […] bone marrow biopsy showing hypercellularity for age with trilineage growth (panmyelosis) including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes (differences in size). […] presence of JAK2V617F or JAK2 exon 12 mutation. […] The minor WHO criterion is: serum erythropoietin level below the reference range for normal.

• #1 New Perspectives on Polycythemia Vera: From Diagnosis to Therapy

  https://www.mdpi.com/1422-0067/21/16/5805

  Major changes to the PV diagnostic criteria were made in the 2016 revision of the World Health Organization (WHO) classification. In particular, the diagnostic thresholds for hemoglobin (Hb) and hematocrit (Hct) were both lowered to 16.5 g/dL and 49% for men, and 16 g/dL and 48% for women, respectively. […] The dismissal of the endogenous erythroid colony formation “in vitro” as a minor diagnostic criterion should also be mentioned; indeed, although highly specific for JAK2V617F-mutated, erythropoietin-independent erythroid progenitors, it suffers from being technically demanding and expensive, and it is available only in a very limited number of research laboratories. […] Furthermore, as we have previously reported, the use of the WHO 2016 revised diagnostic criteria led to a higher number of PV diagnosis among those cases that would have been formerly classified as MPN, unclassifiable owing to the lack of all required diagnostic criteria. […] In addition, BM biopsy has been included among the major criteria for PV diagnosis; first of all, it can be helpful to distinguish between PV and JAK2-positive ET, and it also enables the assessment of BM fibrosis grade at diagnosis, thus identifying a more aggressive disease.

• #1 Polycythemia Vera Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/205114-workup

  Diagnostic criteria for PV as per the 2022 revised WHO guidelines include three major criteria and a minor criterion. Diagnosis requires the presence of either all three major criteria or the first two major criteria and the minor criterion. […] […] The most important diagnostic tests are JAK2 mutation analysis and the serum erythropoietin (Epo) level. A positive JAK2 V617F mutation and a low Epo level confirms the diagnosis of PV. […] […] A low serum Epo level, which is decreased in nearly all patients with PV who have experienced no recent hemorrhage, distinguishes polycythemia from secondary causes of polycythemia in which the serum Epo level is generally within the reference range or is elevated. […]

• #1 Polycythemia Vera Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/205114-workup

  The Polycythemia Vera Study Group (PVSG) was the first to set rigorous criteria for the diagnosis of polycythemia vera (PV) in the 1970s. With the establishment of polymerase chain reaction (PCR) based methods for detecting the JAK2 V617F mutation, this may become the first molecular diagnostic marker for PV, similar to BCR/ABL for chronic myelogenous leukemia (CML). However, because of a paucity of centers doing red blood cell mass measurements, demonstrating an elevated red blood cell mass continues to become more difficult; indeed, the 5th edition of the World Health Organization (WHO) classification, published in 2022, removed elevated red blood cell mass as a criterion for PV diagnosis, because use of the assay has become uncommon in routine clinical practice. […] […] The diagnostic criteria set by the PVSG are organized into two categories, A and B. The diagnosis of PV is established if all three category A criteria are present, or if criteria A1 and A2 plus any two criteria from category B are present. […]

• #1 Polycythemia Vera – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/polycythemia-vera

  Polycythemia vera is a chronic myeloproliferative neoplasm characterized by an increase in morphologically normal red cells (its hallmark), but also white cells and platelets. […] Diagnosis is made by complete blood count, testing for JAK2 or rarely CALR mutations, and clinical criteria. […] Polycythemia vera is often first suspected because of an abnormal CBC (eg, hemoglobin 16.5 g/dL [ 165 g/L] in men or 16.0 g/dL [ 160 g/L] in women). However, hemoglobin and hematocrit levels may be misleading. The hematocrit may be normal because of plasma volume expansion, and the hemoglobin may be normal if there is concurrent iron deficiency. Thus, an elevated red cell count is the most useful measure of erythrocytosis. […] Polycythemia vera should always be considered in patients with a normal hematocrit but microcytic erythrocytosis and evidence of iron deficiency; this combination of findings is a hallmark of polycythemia vera.

• #1 Making a Differential Diagnosis of Polycythemia Vera

  https://www.onclive.com/view/making-a-differential-diagnosis-of-polycythemia-vera

  Now, in terms of some of the differential diagnosis, one should note that if we are talking about WHO definition of polycythemia vera, the differential diagnosis is really vanishingly small. In fact, its really confined to patients who have the other JAK mutation positive myeloproliferative neoplasms, or in the rare event, for example, MDS [myelodysplastic syndrome], MPN [myeloproliferative neoplasm] overlap syndromes, where too, one may find JAK mutations. In particular, let me mention that essential thrombocytosis, and in some cases, myelofibrosis, needs to be verified on bone marrow biopsy and effectively made sure that those are not the underlying conditions. Finally, one must also remember that these other MPNs can also have unrelated secondary causes for having polycythemia vera in any individual patient. Outside of these more common scenarios, very rarely we find familial or hereditary cases of erythrocytosis. For example, EPOR [erythropoietin] receptor mutations can present, those patients can present, with a picture very akin to polycythemia vera. And for every polycythemia vera patient there are probably about 10 secondary polycythemia or secondary erythrocytosis patients. The 3 most common scenarios in which one finds secondary polycythemia are obstructive sleep apnea, which contributes to the chronic hypoxia. Also, tobacco smoking or smoking in general can cause a secondary polycythemia. And last but not the least, testosterone use.

• #1 Tests and treatment for polycythaemia vera | Cancer Research UK

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

  To find out if you have polycythemia vera your doctor will do several tests. […] The first test to diagnose polycythaemia vera (PV) is a blood test. […] If the first blood test suggests you have PV, you might have another blood test to look for a change in a gene called JAK2. […] Other tests you might have include: a bone marrow test, a chest x-ray, an ultrasound scan of your tummy (abdomen) to check the size of your spleen, a test to measure the oxygen level in your blood (pulse oximetry), a CT scan, an MRI scan. […] For a high risk of developing blood clots, you may have treatment to control your blood cell levels. […] This is known as cytoreduction. […] Hydroxycarbamide is a chemotherapy drug known as an anti metabolite. […] Ruxolitinib is a type of targeted cancer drug. […] You might have this if you cant have hydroxycarbamide, or it no longer works in treating your PV.

• #1 Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37357958/

  Polycythemia vera (PV) is a JAK2-mutated myeloproliferative neoplasm characterized by clonal erythrocytosis; other features include leukocytosis, thrombocytosis, splenomegaly, pruritus, constitutional symptoms, microcirculatory disturbances, and increased risk of thrombosis and progression into myelofibrosis (post-PV MF) or acute myeloid leukemia (AML). […] A working diagnosis is considered in the presence of a JAK2 mutation associated with hemoglobin/hematocrit levels of 16.5 g/dL/49% in men or 16 g/dL/48% in women; morphologic confirmation by bone marrow examination is advised but not mandated. […] Abnormal karyotype is seen in 15%-20% of patients with the most frequent sole abnormalities being +9 (5%), loss of chromosome Y (4%), +8 (3%), and 20q- (3%). […] Over 50% of patients harbor DNA sequence variants/mutations other than JAK2, with the most frequent being TET2 (18%) and ASXL1 (15%). Prognostically adverse mutations include SRSF2, IDH2, RUNX1, and U2AF1, with a combined incidence of 5%-10%.

• #1 Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37357958/

  Median survival is 15 years but exceeds 35 years for patients aged 40 years. Risk factors for survival include older age, leukocytosis, abnormal karyotype, and the presence of adverse mutations. […] Two risk categories are considered: high (age 60 years or thrombosis history) and low (absence of both risk factors). […] Current goal of therapy is to prevent thrombosis. Periodic phlebotomy, with a hematocrit target of 45%, combined with once- or twice-daily aspirin (81 mg) therapy, absent contraindications, is the backbone of treatment in all patients, regardless of risk category. […] At the present time, we do not consider a drug-induced reduction in JAK2V617F allele burden, which is often incomplete and seen not only with peg-IFN but also with ruxolitinib and busulfan, as an indicator of disease-modifying activity, unless accompanied by cytogenetic and independently-verified morphologic remission.

• #1 Making a Differential Diagnosis of Polycythemia Vera

  https://www.onclive.com/view/making-a-differential-diagnosis-of-polycythemia-vera

  When defining risk for polycythemia vera, Im mindful of a couple of different concepts. First, risk as it relates to mortality related to the disease, and second, which is the more common situation, risk of having a vascular event, thrombosis or bleeding. Now, our assessment of risk, I think, has evolved over time. First, the assessment of risk of having thrombosis or bleeding has been primarily, in the past, age over 60 or individuals that have had a prior thrombotic event. Now, we recognize that this is not nearly granular enough. Over time, I think there have been several additional parts to the model. First, other contributing factors, an elevated white blood cell count through multiple different studies has been associated with a higher risk of thrombosis. Second, other contributing factors, cardiovascular risk, other poor areas of fitness, strong family history, and hypercholesterolemia. All of these other factors can also really mingle with those other P-vera [polycythemia vera] related risks in terms of risks of vascular events. Over time, there have been additional prognostic scores developed by colleagues such as Ayalew Tefferi [MD at the Mayo Clinic] that have included age, the degree of leukocytosis, etc, in terms of more of a mortality type assessment.

• #1 Tests for polycythaemia vera (PV) | Blood Cancer UK

  https://bloodcancer.org.uk/understanding-blood-cancer/polycythaemia-vera-pv/pv-tests/

  If genetic tests dont show a JAK2 mutation, then you will need more tests to confirm whether you have PV. This may include further blood tests, scans and a bone marrow biopsy. […] You may need a bone marrow biopsy to diagnose PV. This is a minor surgical procedure used to collect samples of bone marrow to test in the laboratory. […] Doctors will assess your risk based on: your age, whether you have had problems with blood clots or bleeding before, other medical conditions you may have, your blood counts the number of red cells, white cells and platelets in your blood. […] After you have been diagnosed with PV, you will have tests to monitor the condition and any treatment youre having. The test you will have done routinely is a full blood count, or FBC.

• #1 Polycythemia Vera: A Comprehensive Approach to Management – Hematology Advisor

  https://www.hematologyadvisor.com/features/polycythemia-vera-how-to-treat-approach-management-risk/

  A positive test for JAK2 mutation establishes an MPN with a high suspicion of PV, as PV is the most common MPN. […] The World Health Organization identified 3 major criteria and 1 minor criterion for PV. A diagnosis of PV requires either all 3 major criteria to be met or 2 major criteria plus the minor criterion. […] In general, the first-line treatment of choice for cytoreductive therapy for PV is hydroxyurea in conjunction with therapeutic phlebotomy to maintain a goal hematocrit of 45% based on the CYTO-PV study, which demonstrated a reduced rate of cardiovascular events as compared to less-stringent hematocrit control (45%-50%). […] Risk stratification is absolutely key to treatment decision-making, said Prithviraj Bose, MD, associate professor in the Department of Leukemia at the University of Texas MD Anderson Cancer Center, in Houston.

• #1 Tests and treatment for polycythaemia vera | Cancer Research UK

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

  You might need extra treatment or support from your specialist team. […] There is a risk of complications including blood clots during pregnancy if you have PV. […] If you are having surgery or dental treatment for any reason, let your surgeon or dentist know you have PV and the treatment you may be taking.

• #2 How Is Polycythemia Vera (PV) Diagnosed?

  https://www.voicesofmpn.com/polycythemia-vera-diagnosis

  Polycythemia vera (PV) may develop slowly and remain unrecognized for years. It is often diagnosed by chance, following a routine exam by a Healthcare Professional. Often, PV is found during a blood test done for some other reason. In 30% of cases, however, it is diagnosed after a cardiovascular event. […] Signs such as an enlarged left abdomen, and symptoms, such as tiredness, itching, and sweating at night may also suggest PV. […] If your Healthcare Professional suspects you have PV, you will likely have blood tests, bone marrow tests, and genetic tests done to confirm the diagnosis. […] Blood tests in people with PV may show abnormalities in: Red blood cells deliver oxygen to all the cells of your body. Your organs, muscles, and other tissues need oxygen to work properly. Hematocrit (he-MAT-o-krit) the percentage of red blood cells that make up the total blood volume. Hemoglobin (HE-mow-GLOW-bin) the iron-rich protein in red blood cells that carries oxygen. White blood cells help fight infections. Platelets help your body stop bleeding by forming clots. Erythropoietin (eh-WREATH-row-poy-ee-tin) a hormone that stimulates bone marrow to produce new red blood cells.

• #2 Hematocrit Levels | HCT Blood Test For Blood Cancer | LLS

  https://www.lls.org/myeloproliferative-neoplasms/polycythemia-vera/diagnosis

  While certain signs and symptoms may indicate that a person has PV, 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 PV should start with a detailed medical history and a physical examination. […] After the medical history, the doctor will conduct a physical examination. […] This test measures the number of red blood cells, white blood cells and platelets in a sample of blood. […] People with PV have high red blood cell counts. […] In patients with PV, there may be an absolute increase in red blood cell mass. […] In people with PV, high red blood cell counts can suppress EPO levels. […] Your doctor may examine your bone marrow even though the test isn’t needed to diagnose PV.

• #2 Polycythemia Vera: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/205114-overview

  Bone marrow biopsy showing hypercellularity for age with trilineage growth (panmyelosis) including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes (differences in size). […] Presence of JAK2V617F or JAK2 exon 12 mutation. […] The minor WHO criterion is as follows: […] Serum erythropoietin level below the reference range for normal. […] Previous versions of the WHO guidelines included red cell mass 25% above mean normal predicted value as a diagnostic criterion. The WHO removed this criterion from its 2022 guidelines because the determination of red cell mass with chromium-51labeled red cells has become uncommon in routine clinical practice.

• #2 New Perspectives on Polycythemia Vera: From Diagnosis to Therapy

  https://www.mdpi.com/1422-0067/21/16/5805

  Major changes to the PV diagnostic criteria were made in the 2016 revision of the World Health Organization (WHO) classification. In particular, the diagnostic thresholds for hemoglobin (Hb) and hematocrit (Hct) were both lowered to 16.5 g/dL and 49% for men, and 16 g/dL and 48% for women, respectively. […] The dismissal of the endogenous erythroid colony formation “in vitro” as a minor diagnostic criterion should also be mentioned; indeed, although highly specific for JAK2V617F-mutated, erythropoietin-independent erythroid progenitors, it suffers from being technically demanding and expensive, and it is available only in a very limited number of research laboratories. […] Furthermore, as we have previously reported, the use of the WHO 2016 revised diagnostic criteria led to a higher number of PV diagnosis among those cases that would have been formerly classified as MPN, unclassifiable owing to the lack of all required diagnostic criteria. […] In addition, BM biopsy has been included among the major criteria for PV diagnosis; first of all, it can be helpful to distinguish between PV and JAK2-positive ET, and it also enables the assessment of BM fibrosis grade at diagnosis, thus identifying a more aggressive disease.

• #2 Polycythemia Vera Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/205114-workup

  Diagnostic criteria for PV as per the 2022 revised WHO guidelines include three major criteria and a minor criterion. Diagnosis requires the presence of either all three major criteria or the first two major criteria and the minor criterion. […] […] The most important diagnostic tests are JAK2 mutation analysis and the serum erythropoietin (Epo) level. A positive JAK2 V617F mutation and a low Epo level confirms the diagnosis of PV. […] […] A low serum Epo level, which is decreased in nearly all patients with PV who have experienced no recent hemorrhage, distinguishes polycythemia from secondary causes of polycythemia in which the serum Epo level is generally within the reference range or is elevated. […]

• #2 Hematocrit Levels | HCT Blood Test For Blood Cancer | LLS

  https://www.lls.org/myeloproliferative-neoplasms/polycythemia-vera/diagnosis

  In PV, the bone marrow shows above-normal numbers of blood cells and an abnormal number of the platelet-forming cells called megakaryocytes in the bone marrow. […] These tests look for abnormal changes in the genes, chromosomes, proteins or other molecules within the patients cancer cells. […] If PV is suspected, testing for the JAK2 gene mutation should be performed. […] The JAK2 V617F mutation is found in more than 95 percent of PV patients. […] Diagnosis requires 3 major criteria OR 2 major criteria + 1 minor criterion. […] Very high red blood cell count, usually identified by either A, B, or C below: […] Bone marrow biopsy showing abnormally high numbers of blood cells in the bone marrow (called hypercellularity) based on the persons age. […] Presence of the JAK2V617F or JAK2 exon 12 gene mutation. […] Very low erythropoietin level.

• #2 Polycythemia Vera Diagnosis

  https://www.onclive.com/view/polycythemia-vera-diagnosis

  There continues to be discussion around these diagnostic criteria, particularly given the issue of how much erythrocytosis is necessary for diagnosing the disease. This is for a variety of reasons. One, it is sometimes found by a red cell mass that erythrocytosis is present, and it is not obvious just with measurement of the hematocrit that these 2 things can be somewhat unrelated. […] Second, the impact of iron deficiency has a variable impact on the degree of erythrocytosisthat can mask erythrocytosis in terms of developing the disease phenotype. Now, the JAK2 V617F is a very important part of that diagnostic process. We recognize, in 2017, that the vast majority of patients with polycythemia vera will have JAK2 V617F present. There is a much smaller number, 3% to 5%, that will have the JAK2 exon 12 mutation. Many commercial laboratories now will evaluate both, in sequence, in that diagnostic process. Theyll check the V617 at first, but if your diagnostic goal is to exclude polycythemia vera, they will typically reflex to then check the JAK2 exon 12. They are mutually exclusive, so there is really no great value in checking both simultaneouslymdash;its better to do it as a reflex test.

• #2 Polycythemia Vera: Tests and Diagnosis

  https://www.webmd.com/cancer/polycythemia-vera-diagnosis

  Bone marrow is the spongy center part of your bones that makes your blood cells. Your doctor may decide you need a bone marrow test. There are two kinds of bone marrow tests: Aspiration uses a liquid bone marrow sample, Biopsy uses a solid bone marrow sample. […] Most people with PV have a problem in a gene called JAK2. Your doctor can use a blood sample or a bone marrow sample from a biopsy to check your JAK2 gene. […] If tests show that you have PV, your doctor can help you choose the best treatment for you and closely follow your health in the years to come to make sure you dont have complications.

• #2 Polycythaemia vera (PV) | MLL

  https://www.mll.com/en/myeloproliferative-neoplasm-mpn/polycythaemia-vera-pv

  According to the WHO classification, the diagnosis of polycythemia vera requires either all three major criteria or the first two major criteria and the minor criterion. Major criteria: Elevated hemoglobin concentration (: 16.5 g/dL, : 16g/dL) or elevated hematocrit (: 49%*, : 48%). Bone marrow biopsy showing age-adjusted hypercellularity with trilineage growth (panmyelosis), including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes. Presence of JAK2 V617F or JAK2 exon 12 mutation. Minor criterion: Subnormal serum erythropoietin level.

• #2 Polycythemia Vera – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/myeloproliferative-disorders/polycythemia-vera

  Patients suspected of having polycythemia vera typically should have testing for JAK2V617F (exon 14) and JAK2 exon12 mutations. If these results are negative, testing for CALR and LNK mutations is done. The presence of a known causative mutation in a patient with isolated erythrocytosis is strongly suggestive of polycythemia vera. […] Bone marrow aspirate and biopsy is not diagnostic of polycythemia vera. […] Nonspecific laboratory abnormalities that may occur in polycythemia vera include elevated vitamin B12 and B12-binding capacity, hyperuricemia and hyperuricosuria (present in 30% of patients), and decreased expression of MPL (the receptor for thrombopoietin) in megakaryocytes and platelets. These tests are not needed for diagnosis. […] Bone marrow aspirate and biopsy typically shows panmyelosis, large and clumped megakaryocytes, and sometimes an increase in reticulin fibers. However, no bone marrow findings absolutely differentiate polycythemia vera from other disorders of excessive erythrocytosis (eg, congenital familial polycythemia) or from other myeloproliferative neoplasms, of which polycythemia vera is the most common. […] Test for JAK2, CALR, or LNK mutations. […] Bone marrow aspirate and biopsy and a serum erythropoietin level are usually not useful diagnostically.

• #2 Diagnosis and Treatment Options for Polycythemia Vera | MDedge

  https://www.mdedge.com/fedprac/avaho/article/267715/diagnosis-and-treatment-options-polycythemia-vera

  Dr. Richard: We are lucky now that JAK2 has been identified. The JAK2-V617F and the other exon 12 mutations were identified back in 2006 by several groups and is a great test. With JAK2 along with an erythropoietin test, you can feel confident whether you have identified PV. […] Oftentimes in the first visit, I recommend a bone marrow study. […] A bone marrow study or NGS is particularly useful when you have patients who you are convinced have PV, but it turns out they already have extensive fibrosis and are actually moving more toward the post-polycythemia phase a little faster than you think.

• #2 Making a Differential Diagnosis of Polycythemia Vera

  https://www.onclive.com/view/making-a-differential-diagnosis-of-polycythemia-vera

  Now, in terms of some of the differential diagnosis, one should note that if we are talking about WHO definition of polycythemia vera, the differential diagnosis is really vanishingly small. In fact, its really confined to patients who have the other JAK mutation positive myeloproliferative neoplasms, or in the rare event, for example, MDS [myelodysplastic syndrome], MPN [myeloproliferative neoplasm] overlap syndromes, where too, one may find JAK mutations. In particular, let me mention that essential thrombocytosis, and in some cases, myelofibrosis, needs to be verified on bone marrow biopsy and effectively made sure that those are not the underlying conditions. Finally, one must also remember that these other MPNs can also have unrelated secondary causes for having polycythemia vera in any individual patient. Outside of these more common scenarios, very rarely we find familial or hereditary cases of erythrocytosis. For example, EPOR [erythropoietin] receptor mutations can present, those patients can present, with a picture very akin to polycythemia vera. And for every polycythemia vera patient there are probably about 10 secondary polycythemia or secondary erythrocytosis patients. The 3 most common scenarios in which one finds secondary polycythemia are obstructive sleep apnea, which contributes to the chronic hypoxia. Also, tobacco smoking or smoking in general can cause a secondary polycythemia. And last but not the least, testosterone use.

• #2 Making a Differential Diagnosis of Polycythemia Vera

  https://www.onclive.com/view/making-a-differential-diagnosis-of-polycythemia-vera

  When defining risk for polycythemia vera, Im mindful of a couple of different concepts. First, risk as it relates to mortality related to the disease, and second, which is the more common situation, risk of having a vascular event, thrombosis or bleeding. Now, our assessment of risk, I think, has evolved over time. First, the assessment of risk of having thrombosis or bleeding has been primarily, in the past, age over 60 or individuals that have had a prior thrombotic event. Now, we recognize that this is not nearly granular enough. Over time, I think there have been several additional parts to the model. First, other contributing factors, an elevated white blood cell count through multiple different studies has been associated with a higher risk of thrombosis. Second, other contributing factors, cardiovascular risk, other poor areas of fitness, strong family history, and hypercholesterolemia. All of these other factors can also really mingle with those other P-vera [polycythemia vera] related risks in terms of risks of vascular events. Over time, there have been additional prognostic scores developed by colleagues such as Ayalew Tefferi [MD at the Mayo Clinic] that have included age, the degree of leukocytosis, etc, in terms of more of a mortality type assessment.

• #2 Polycythemia Vera: A Comprehensive Approach to Management – Hematology Advisor

  https://www.hematologyadvisor.com/features/polycythemia-vera-how-to-treat-approach-management-risk/

  Thrombosis is a primary contributor to morbidity and mortality in patients with polycythemia vera (PV), a rare hematologic disorder seen primarily in adults aged 60 years and older, with a higher prevalence in men. […] The optimal management of PV requires differential diagnosis, patient risk stratification for the optimal treatment strategy, and control of modifiable risk factors. Despite decades of research, PV remains a diagnosis of exclusion. […] The differential diagnosis of PV is complicated by expanded plasma volume masking erythrocytosis, an essential clinical presentation for differential PV diagnosis. […] In the absence of molecular markers specific for PV, diagnosis is made clinically and often by exclusion; however, the differential diagnosis is challenged by the similarity of the symptoms and pathophysiology between PV, essential thrombocythemia, and primary myelofibrosis.

• #2 Polycythaemia Rubra Vera (High Red Blood Cell Count)

  https://patient.info/allergies-blood-immune/polycythaemia-rubra-vera-high-red-blood-cell-count

  Polycythaemia rubra vera diagnosis may be discovered after testing because you are found to have symptoms, or one of the complications described above. […] Typically, blood tests in someone with PRV show high numbers of red blood cells, raised platelets and raised white blood cell levels, particularly neutrophils. […] If your doctor suspects PRV, they may ask about your medical history and may also examine your tummy (abdomen) to look for any signs that your spleen or liver is enlarged. […] The specialist may suggest further tests to help confirm the diagnosis. These may include: A test called a red cell mass study. If you have PRV, your red cell mass will be raised. […] A blood test to look for the abnormal JAK2 protein. […] A blood test to check your level of erythropoietin, which is usually low in PRV. […] A bone marrow biopsy. This is a procedure where a sample of tissue is taken from the inside of a bone. […] An ultrasound or CT scan of your tummy (abdomen) to look for an enlarged spleen.

• #2 AOP Health – UK: Diagnosis

  https://www.aop-health.com/uk_en/rare-diseases-critical-care/hemato-oncology/polycythemia-vera/diagnosis/

  Genetic analysis: 95% of all PV patients are carriers of the JAK2V617F mutation. […] Measurement of the erythropoietin levels in the blood: If the kidneys suffer from a lack of oxygen, they release erythropoietin which stimulates the production of blood cells in the bone marrow (erythropoiesis). However, in the case of Polycythaemia vera, a rise in the erythrocyte count provides the organ with a higher amount of oxygen, which leads to a decline in the production of erythropoietin. […] Ultrasound scan: An ultrasound scan should be performed on the upper abdomen in order to check the size of the liver and spleen. These organs are sometimes swollen in patients with Polycythaemia vera. […] Bone marrow puncture: The removal and histological examination of bone marrow from the iliac crest region may provide verification in uncertain cases.

• #2 Making a Differential Diagnosis of Polycythemia Vera

  https://www.onclive.com/view/making-a-differential-diagnosis-of-polycythemia-vera

  Then finally, increasingly our new molecular mutations that we obtain on molecular profiling panels are helping to refine some longer-term risk of progression to myelofibrosis or to acute leukemia. I would say at the current time management decisions as it relates to treatment primarily around the risk of thrombotic or vascular events, as opposed to those markers that may predict mortality in 20 years versus 35 years, and lower risk being younger individuals without prior vascular events, without cardiovascular risk, and higher being those individuals that have those factors. I would share as well as I work to make my treatment decisions, I think about both risk and disease burden, meaning risk is how likely are you to have a vascular event, but disease burden can include difficult symptoms that can relate to the disease or sometimes difficult toxicities from the therapeutic approach. Lets say you do not tolerate phlebotomies. Im mindful as I come up with treatment decisions, both what is the risk and what is the disease burden. An individual may be low risk, but if they have significant disease burden symptoms and dont tolerate phlebotomies, there still may well be an indication for beginning them on medical therapy.

• #2 Polycythemia Vera: A Comprehensive Approach to Management – Hematology Advisor

  https://www.hematologyadvisor.com/features/polycythemia-vera-how-to-treat-approach-management-risk/

  In special populations such as young patients and pregnant women with PV, there are concerns over the long-term risk of cancer with hydroxyurea, which is a category D drug in pregnancy with evidence of risk to the fetus. […] Evidence-based treatment strategies are recommended to maximize life expectancy. […] The current cytoreductive treatment options include hydroxyurea, pegylated interferon alfa-2a, busulfan (also used in combination with pegylated interferon alfa-2a), and ruxolitinib. […] New treatment options are in development to address the current unmet needs in PV, including ropeginterferon and givinostat, both in phase 3 clinical development.

• #2 Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37357958/

  Median survival is 15 years but exceeds 35 years for patients aged 40 years. Risk factors for survival include older age, leukocytosis, abnormal karyotype, and the presence of adverse mutations. […] Two risk categories are considered: high (age 60 years or thrombosis history) and low (absence of both risk factors). […] Current goal of therapy is to prevent thrombosis. Periodic phlebotomy, with a hematocrit target of 45%, combined with once- or twice-daily aspirin (81 mg) therapy, absent contraindications, is the backbone of treatment in all patients, regardless of risk category. […] At the present time, we do not consider a drug-induced reduction in JAK2V617F allele burden, which is often incomplete and seen not only with peg-IFN but also with ruxolitinib and busulfan, as an indicator of disease-modifying activity, unless accompanied by cytogenetic and independently-verified morphologic remission.

• #2 Tests for polycythaemia vera (PV) | Blood Cancer UK

  https://bloodcancer.org.uk/understanding-blood-cancer/polycythaemia-vera-pv/pv-tests/

  If genetic tests dont show a JAK2 mutation, then you will need more tests to confirm whether you have PV. This may include further blood tests, scans and a bone marrow biopsy. […] You may need a bone marrow biopsy to diagnose PV. This is a minor surgical procedure used to collect samples of bone marrow to test in the laboratory. […] Doctors will assess your risk based on: your age, whether you have had problems with blood clots or bleeding before, other medical conditions you may have, your blood counts the number of red cells, white cells and platelets in your blood. […] After you have been diagnosed with PV, you will have tests to monitor the condition and any treatment youre having. The test you will have done routinely is a full blood count, or FBC.

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