What is the difference between myelodysplastic syndrome and myelofibrosis

Therefore, fatigue anemia , infection neutropenia , and bleeding thrombocytopenia are common complaints. Splenomegaly is rare. Skin pallor may be seen in anemic patients, and hematomas are noted in many thrombocytopenic patients. Anemia can often be seen with occasional deficits in WBC or platelet counts.

RBC line. Anemia is nearly universal, typically with an increased MCV, macroovalocytes, and a decreased reticulocyte count. WBC line. Bone marrow aspiration and biopsy are necessary to diagnose and classify MDS. The goal of therapy is to reduce symptoms related to cytopenias and prolong life.

Mortality is often related to infections as well as the transformation into AML. Supportive therapy. Blood and platelet transfusions are given as needed but may eventually be complicated by alloantibody formation, which decreases cell survival.

Growth factors. Erythropoietin may decrease the transfusion requirement in some patients. Serum erythropoietin levels and frequency of red cell transfusion requirements can predict the likelihood of a response. Granulocyte colony-stimulating factor G-CSF or granulocyte-macrophage colony-stimulating factor GM-CSF can increase neutrophil counts and decrease the incidence of associated minor infections, but no significant survival benefit has been demonstrated.

Pyridoxine is nontoxic and improves anemia in a small number of patients with sideroblastic anemia due to metabolic changes in the vitamin B 6 pathway.

This should not be confused with refractory anemia with ring sideroblasts RARS , which will not respond to vitamin B 6. Low-intensity chemotherapy regimens , including the hypomethylating agents— azacitidine Vidaza and decitabine Dacogen —have demonstrated activity with significantly less morbidity than intensive chemotherapy.

Studies have demonstrated improved overall survival in those receiving azacitidine compared with best supportive care. Intensive chemotherapy with regimens similar to those for AML have proved disappointing, with significant morbidity and few long-term survivors. Allogeneic bone marrow transplantation offers the only possibility of cure for the small group of eligible patients. Decisions regarding the timing of the transplantation are often made based on the IPSS score, age, and comorbidities of the patient.

Prognosis is based on a variety of features included in the IPSS score which attempts to predict an overall tendency to evolve into AML. Patients with mild cytopenias and favorable cytogenetics can survive for many years.

Patients with higher blast percentages and a poor risk karyotype have an increased risk for transforming to AML and significantly shorter median survival times. How we treat lower-risk myelodysplastic syndromes. Blood ; Find this resource:. Therapy for myeloproliferative neoplasms: when, which agent, and how? Sekeres MA, Cutler C. How we treat higher-risk myelodysplastic syndromes.

Spivak JL. Myeloproliferative neoplasms. N Engl J Med ;— All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use for details see Privacy Policy and Legal Notice. Oxford Medicine Online. Publications Pages Publications Pages. Recently viewed 0 Save Search. Read More. Your current browser may not support copying via this button.

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You could not be signed in, please check and try again. Sign in with your library card Please enter your library card number. Disclaimer Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Myeloproliferative Neoplasms a. Introduction i. Elevated red blood cell indices 3 1. BM biopsy showing hypercellularity for age with trilineage growth panmyelosis including prominent erythroid, granulocytic, and megakaryocytic proliferation 2.

Subnormal serum erythropoietin level 1. Having another blood cell disorder, like essential thrombocythemia or polycythemia vera, as these disorders can evolve to myelofibrosis over time The presence of the JAK2 mutation Exposure to certain industrial chemicals, such as toluene and benzene Exposure to high levels of radiation.

What are the symptoms of myelofibrosis? Common symptoms include: Abdominal fullness, pain or feeling full before finishing a meal because of an enlarged spleen Bone pain Fatigue Itching Night sweats Bruising Easy bleeding Increased likelihood of getting an infection Pale skin Shortness of breath with exercise Weight loss without trying.

How do you diagnose myelofibrosis? They may include: Physical exam and history Blood tests: A complete blood count with a differential that looks at the total number and type of blood cells in your blood A blood smear that allows your doctor to look at your blood under a microscope Bone marrow examination, including aspiration and biopsy to see how your bone marrow looks required for diagnosis Gene testing to look at abnormalities in your cell DNA.

How do you treat myelofibrosis? As the disease progresses and symptoms get worse, a number of treatments may be used: Supportive care with blood transfusions, blood cell growth factors, androgens male hormones and antibiotics to increase blood counts and stop infections Ruxolitinib to decrease enlarged spleen size and reduce other symptoms such as fatigue Immune modulating drugs such as thalidomide and the related drugs lenalidomide and pomalidomide, which in some patients may improve blood cell counts and relieve enlarged spleens Interferon, another type of immune modulating drug Stem cell transplants, which replace blood-forming stem cells in bone marrow with healthy stem cells from a donor Surgical removal of the spleen which may be needed in rare cases Clinical trials, also called research studies.

Previous Section Next Section. Two months after the initial diagnosis, she progressed to a precursor B-cell acute lymphoblastic leukemia. She was treated with induction therapy followed by allogenic stem cell transplantation. She was alive and doing well upon last followup. We have also reviewed the literature and discussed the clinicopathologic features of 36 MDS patients who progressed to ALL reported in the literature. Herein, we report a unique patient who presented with MDS and myelofibrosis and progressed to precursor B-cell acute lymphoblastic leukemia shortly after the initial presentation.

A year-old Caucasian woman with a known history of diabetes mellitus type 2, osteoarthritis, hypertension, and hyperlipidemia presented, after a possible acute upper respiratory tract infection, with shortness of breath, fatigue, nausea, and vomiting. Initial physical examination showed no lymphadenopathy or hepatosplenomegaly. She underwent a bone marrow aspirate and biopsy.

The bone marrow aspiration was unsuccessful. Mild-to-moderate erythroid dysplasia was present in the form of binucleation, nuclear blebbing and irregular nuclear contours. The megakaryocytes were moderately increased with focal abnormal clustering and occasional dyspoietic forms like nuclear hypolobation and micromegakaryocytes.

The myeloid precursors showed abnormal localization in the core biopsy without significant morphological dyspoiesis. Blasts were not increased at 0. Scattered clusters of small lymphocytes with occasional irregular nuclear contours were present; however, no clusters of lymphoblasts are noted. Special stains for reticulin and collagen fibers showed marked reticulin fibrosis without significant collagenous fibrosis.

Conventional cytogenetic studies showed a normal female chromosome karyotype. Florescence in situ hybridization FISH studies using probes for MDS including MLL gene 11q23 region, monosomy 7, and trisomy 8 and for deletions of 5q31, 7q31 and 20q12 were performed and were negative. A diagnosis of myelodysplastic syndrome MDS with myelofibrosis was rendered.

Rare circulating blasts were identified in the peripheral blood smears Figure 2 a. The blasts were intermediate sized with fine chromatin, small nucleoli, nuclear folding, and scant cytoplasm. No granules or Auer rods were identified. Cytochemical stains for myeloperoxidase, Sudan black B, and dual esterase were all negative. Clonality was also confirmed by a positive molecular study for immunoglobulin heavy chain gene rearrangement.

Severe reticulin fibrosis was also present. A final diagnosis of precursor B-cell acute lymphoblastic leukemia pre-B ALL and marked reticulin fibrosis was made. Cerebrospinal fluid was negative for lymphoblasts.

She also received intrathecal prophylaxis methotrexate and cytarabine and tolerated well. Flow cytometry analysis was also negative for blasts.

Patient subsequently underwent allogenic stem cell transplantation, seven months after her initial diagnosis of MDS, and five months after she developed pre-B ALL. She tolerated the procedure and was alive upon the last follow-up. Myelodysplastic syndromes MDS comprise a heterogeneous group of hematopoietic cell disorders characterized by cytopenias, bone marrow hypercellularity, and abnormal blood cell differentiation ineffective hematopoiesis [ 27 ].

MDS with myelofibrosis is characterized by a marked increase in bone marrow reticulin fibers and presents with pancytopenia and minimal or absent organomegaly. The prognosis for patients with MDS with fibrosis is generally worse than that for MDS without fibrosis [ 29 — 34 ]; however, controversies exist [ 35 , 36 ]. The variation may be secondary to the case selection in reported series. In one of the largest series of retrospective study of MDS patients, the investigators reported a median survival of 9.

However, this study was performed before the development of the IPSS, so the two groups were not stratified according to other features now known to affect the survival in MDS [ 26 ]. There are other studies showing that myelofibrosis has prognostic relevance independent of the IPSS classification of MDS [ 31 — 33 , 37 ]. Overall, patients with myelodysplastic syndrome and myelofibrosis are reported to have shorter survival times than those without these features [ 27 — 29 , 37 — 40 ]. The clinical implications of increased reticulin seem to be different from those of increased collagen: the amount of bone marrow reticulin shows little correlation with the severity of the underlying hematologic disease while the presence and amount of collagen fibers are strongly correlated with abnormal blood counts and poor outcome [ 39 ].

Moreover, reticulin fibrosis is often reversible after therapeutic intervention, while collagen fibrosis is less likely to be modified by treatment. Historical observations suggested that bone marrow fibrosis might also affect hematopoietic reconstitution after allogeneic stem cell transplantation.

In one study, the authors found a higher risk of graft failure and delayed neutrophil engraftment as well as a significantly higher risk of relapse in patients with severe bone marrow fibrosis compared to those with no or moderate fibrosis [ 39 ].

This phenomenon could be explained by the fact that MDS is a disorder of the pluripotent hematopoietic stem cell. Nevertheless, Ogata et al. They concluded that MDS EBCs often coexpressed stem cell antigens and late-stage myeloid antigens asynchronously, but rarely expressed T- and B-lymphoid cell-specific antigens [ 41 ].

The transformation occurred between 2 and 50 months after the primary diagnosis, usually less than 2 years. One case of eosinophilic MDS 2. From the 22 cases in which the data were available, eight patients were refractory to treatment or died early during induction therapy. Ten patients achieved complete remission CR and 2 achieved partial remission PR. Herein, we described a unique patient with MDS and myelofibrosis transformed to a pre-B acute lymphoblastic leukemia, which supports the hypothesis that MDS is a disorder of the pluripotent hematopoietic stem cells.

However, the underlying mechanisms of lymphoid transformation are not well defined. Like Myelofibrosis, the symptoms for Myelodysplastic syndrome include fatigue, shortness of breath, skin pallor due to anemia and skin bruising due to low platelets.

Clinical Trial Search Tool. More than 15, clinical trials are currently recruiting patients of all cancer types and stages. Find a cancer Trial. Advanced age is the main risk factor for myelofibrosis, most people diagnosed with it are over the age of Other risk factors include exposure to radiation, chemicals, or other blood disorders such as essential thrombocythemia or polycythemia vera.

There does not appear to be a gender bias in myelofibrosis, and men and women are equally at risk of developing the condition. Most cases of MF occur as a result of a genetic mutation in the bone marrow. When myelofibrosis occurs on its own, it is called major myelofibrosis. If it occurs as a result of a separate disease, it is known as secondary myelofibrosis for example, scar tissue in the bone marrow as a complication of an autoimmune disease. Myeloproliferative neoplasms are a group of disorders resulting from poorly formed or dysfunctional blood cells.

These neoplasms are considered to be cancer, due to the abnormal function of cells. Leukemia, a blood cancer which results in a higher level of white blood cells can be considered a myeloproliferative neoplasm. A few types of leukemia include:.

Myelofibrosis symptoms and Myelodysplastic syndrome low blood counts can be treated with blood transfusions, where red blood cells or platelets are replaced. Active treatment with drugs called hypomethylating agents are used in MDS.