ABSTRACT
La mielofibrosis idiopática crónica (MIC), también conocida como metaplasia mieloide agnogénica, mielofibrosis primaria, mieloesclerosis con metaplasia mieloide, y mielofibrosis idiopática, se caracteriza por esplenomegalia, hematopoyesis extramedular, anemia progresiva, reacción leucoeritroblástica, hematíes en lágrimas en sangre periférica y fibrosis en médula ósea. Se han obtenido beneficios modestos con las terapias para la anemia (eritropoyetina y andrógenos) o la esplenomegalia (hidroxiurea, interferón-alfa). Ninguno de estos regímenes confiere un beneficio de supervivencia o cambio demostrable en la fibrosis intramedular. La ausencia de tratamiento eficaz para la enfermedad ha llevado al estudio de sus mecanismos patogénicos y el uso de nuevas alternativas terapéuticas. Se describen 2 pacientes con diagnóstico de MIC de 9 y 5 años de evolución que debido a los altos requerimientos transfusionales y la gran esplenomegalia, se les administró tratamiento con talidomida y prednisona. El tratamiento combinado logró aumento de las cifras de hemoglobina y de los conteos de plaquetas y una reducción y eliminacin de los requerimientos transfusionales
Chronic idiopathic myelofibrosis (CIM) also known as agnogenic myeloid metaplasia, primary myelosclerosis with myeloid metaplasia and idiopathic myelofibrosis is characterized by splenomegalia, extramedullary hematopoiesis, progressive anemia, leukoerythroblastosis reaction, tears white cells in peripheral blood and bone marrow fibrosis. There have been modest benefits with anemia therapies (erythropoietin and androgens) or the splenomegalia (hydroyurea, alpha-interferon). Neither of these regimes confers survival benefit or a demonstrable change in extramedullary fibrosis. The lack of an effectiveness treatment for this disease has leads us to study its pathogenic mechanisms and the use of new therapeutical alternatives. Two cases are described diagnosed with CIM with a course of 9 and 5 years and due to the high transfusion requirements and a significant splenomegalia it was necessary to administer a treatment with thalidomide and prednisone. Combination treatment achieved an increase in hemoglobin figures and of platelet counts and a decrease and elimination of transfusion requirements
Subject(s)
Humans , Male , Female , Middle Aged , Primary Myelofibrosis/drug therapy , Thalidomide/therapeutic useABSTRACT
Jumping translocation (JT) has been defined as the translocation involving one donor chromosome and multiple recipient chromosomes in different cell lines in the same patient. This is rarely observed in various hematologic malignancies. Chronic idiopathic myelofibrosis (CIMF) is considered to be a clonal hematopoietic stem cell disorder, and clonal cytogenetic abnormalities have been reported to occur in about 30~60% of patients. We report here on a case of CIMF with JT involving 12q21; t(5;12)(q13;q21) and t(12;12)(p13;q21) as the sole aberration. A pathogenetic relation between CIMF and the 12q rearrangement has been suggested in the literature, but neither the JT in CIMF nor the JT of 12q21 has been reported on. This is the first report of JT involving 12q21 in a patient with CIMF (ED note: nice writing).
Subject(s)
Humans , Cell Line , Chromosome Aberrations , Hematologic Neoplasms , Hematopoietic Stem Cells , Primary Myelofibrosis , Tissue DonorsABSTRACT
BACKGROUND: We investigated the Janus kinase 2 (JAK2) mutation and its diagnostic value in patients suffering with non BCR/ABL myeloproliferative diseases (nMPD) or other reactive conditions. METHODS: We reviewed the clinical records of 83 patients who underwent bone marrow (BM) examinations with suspect of nMPD. The diagnoses of nMPD were made based on the WHO criteria since 2001 and the PVSG criteria before 2001. The JAK2 mutation was examined by PCR in 54 patients whose BM samples were available. RESULTS: The JAK2 mutation was detected in 25 patients (46%); 12 of 26 patients with essential thrombocythemia (ET), 9 of 12 patients with polycyhtemia vera (PV), one of 7 patients with chronic idiopathic myelofibrosis (CIM) and one patient with unclassifiable MPD. Additionally, JAK2 mutation was detected in each one patient with secondary polycythemia and reactive thrombocytosis. These two patients and two other patients among the JAK2 mutated ET did not meet the WHO PV criteria due to their initial low hemoglobin levels. These patients had liver cirrhosis and hypersplenism due to Budd-Chiari syndrome (1), gastrointestinal bleeding (1) or the initial hemoglobin level was slightly below the level as provided by the criteria, but the level showed a rising pattern despite cytoreductive therapy (2). With the results of the JAK2 mutation available, 4 patients' disease could be re-diagnosed as PV. Finally, the positive rate of the JAK2 mutation was 81% in PV, 48% in ET and 14% in CIM. The presence of JAK2 mutation closely correlated with PV (p=0.001), leukocytosis (p=0.001) and an increased cellularity of BM (p=0.024). CONCLUSIONS: The JAK2 mutation may help differentiate nMPD from secondary cytosis. Therefore, it should be incorporated into the guidelines for the nMPD work-up for making a more accurate diagnosis and administering proper treatment.
Subject(s)
Middle Aged , Male , Humans , Female , Aged, 80 and over , Aged , Adult , Retrospective Studies , Proto-Oncogene Proteins c-bcr , Polymerase Chain Reaction , Myeloproliferative Disorders/diagnosis , Mutation , Janus Kinase 2/genetics , Genes, abl , Diagnosis, Differential , DNA/genetics , Biomarkers/metabolismABSTRACT
Myelofibrosis results from stimulation of bone marrow stromal fibroblasts by fibrogenic cytokines elaborated by neoplastic or reactive cells in the marrow. Chronic idiopathic myelofibrosis should be differentiated from secondary myelofibrosis resulting from bone marrow involvement of malignant lymphoma because these diseases have different therapeutic strategies. Myelofibrosis in systemic lupus erythematosus is an uncommon but well-recognized complication, and identifying an autoimmune myelofibrosis is important in diagnosing this benign cause of myelofibrosis. We report two cases of myelofibrosis presenting the clinical and radiologic findings that mimicked malignant lymphoma -a case of autoimmune myelofibrosis associated with systemic lupus erythematosus showing extensive lymphadenopathy and a case of chronic idiopathic myelofibrosis with focal intrasplenic extramedullary hematopoiesis- and discuss the importance of the clinical information and radiologic findings for the pathologic diagnosis of myelofibrosis.