[Utility of bone marrow biopsy in the diagnosis of myeloproliferative neoplasm]. 2016

José Leonard Tovar-Bobadilla, and Carlos Ortiz-Hidalgo
Departamento de Patología Quirúrgica y Molecular, Centro Médico ABC, Ciudad de México, México.

A diagnostic approach of myeloproliferative neoplasms, according to the 2008 WHO classification system for hematological malignancies, has to consider clinical, molecular, and cytogenetic information as well as bone marrow histology. A diagnosis of chronic myeloid leukemia requires the presence of BCR-ABL-1, and the Philadelphia chromosome-negative (Ph-1-negative) myeloproliferative neoplasms constitute three main subtypes, including primary myelofibrosis, polycythemia rubra vera, and essential thrombocythemia. These three Ph-1-negative myeloproliferative neoplasms share many pathogenic characteristic such as JAK2 mutations; however, they differ in prognosis, progression to myelofibrosis, and risk of leukemic transformation. There are currently various major points of interest in bone marrow examination in myeloproliferative neoplasms. One is the morphology of megakaryocytes, which are the hallmark of Ph-1-negative myeloproliferative neoplasms and play a crucial role in separating the different subtypes of myeloproliferative neoplasms. Another is reticulin fibrosis or collagen fibrosis, which may only be detected on a bone marrow biopsy specimen by reticulin and trichrome stains, respectively, and immunohistochemistry and certain molecular techniques may be applied in bone marrow biopsies as supporting evidence of certain features of myeloproliferative neoplasms.

UI MeSH Term Description Entries
D009196 Myeloproliferative Disorders Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE. Disorder, Myeloproliferative,Disorders, Myeloproliferative,Myeloproliferative Disorder
D011087 Polycythemia Vera A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs. Erythremia,Osler-Vaquez Disease,Polycythemia Rubra Vera,Polycythemia Ruba Vera,Primary Polycythemia,Disease, Osler-Vaquez,Erythremias,Osler Vaquez Disease,Polycythemia Ruba Veras,Polycythemia Rubra Veras,Polycythemia, Primary,Polycythemias, Primary,Primary Polycythemias,Ruba Vera, Polycythemia,Ruba Veras, Polycythemia,Vera, Polycythemia Ruba,Vera, Polycythemia Rubra,Veras, Polycythemia Ruba,Veras, Polycythemia Rubra
D011379 Prognosis A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations. Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D001853 Bone Marrow The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells. Marrow,Red Marrow,Yellow Marrow,Marrow, Bone,Marrow, Red,Marrow, Yellow
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies
D013920 Thrombocythemia, Essential A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets. Hemorrhagic Thrombocythemia,Thrombocythemia, Hemorrhagic,Thrombocythemia, Idiopathic,Thrombocythemia, Primary,Primary Thrombocythemia,Thrombocytosis, Autosomal Dominant,Thrombocytosis, Primary,Autosomal Dominant Thrombocytoses,Autosomal Dominant Thrombocytosis,Dominant Thrombocytoses, Autosomal,Dominant Thrombocytosis, Autosomal,Essential Thrombocythemia,Essential Thrombocythemias,Hemorrhagic Thrombocythemias,Idiopathic Thrombocythemia,Idiopathic Thrombocythemias,Primary Thrombocythemias,Primary Thrombocytoses,Primary Thrombocytosis,Thrombocythemias, Essential,Thrombocythemias, Hemorrhagic,Thrombocythemias, Idiopathic,Thrombocythemias, Primary,Thrombocytoses, Autosomal Dominant,Thrombocytoses, Primary
D055728 Primary Myelofibrosis A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone. Agnogenic Myeloid Metaplasia,Bone Marrow Fibrosis,Chronic Idiopathic Myelofibrosis,Fibrosis, Bone Marrow,Idiopathic Myelofibrosis,Myelofibrosis,Myelofibrosis With Myeloid Metaplasia,Myeloid Metaplasia,Myelosclerosis,Myelosis, Nonleukemic,Agnogenic Myeloid Metaplasias,Bone Marrow Fibroses,Fibroses, Bone Marrow,Metaplasia, Agnogenic Myeloid,Metaplasia, Myeloid,Metaplasias, Agnogenic Myeloid,Metaplasias, Myeloid,Myelofibroses,Myelofibroses, Primary,Myelofibrosis, Primary,Myeloid Metaplasia, Agnogenic,Myeloid Metaplasias,Myeloid Metaplasias, Agnogenic,Myeloscleroses,Myeloses, Nonleukemic,Nonleukemic Myeloses,Nonleukemic Myelosis,Primary Myelofibroses
D018450 Disease Progression The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis. Clinical Course,Clinical Progression,Disease Exacerbation,Exacerbation, Disease,Progression, Clinical,Progression, Disease
D019337 Hematologic Neoplasms Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES. Blood Cancer,Hematologic Malignancies,Hematopoietic Neoplasms,Hematologic Malignancy,Hematological Malignancies,Hematological Neoplasms,Hematopoietic Malignancies,Malignancies, Hematologic,Malignancy, Hematologic,Neoplasms, Hematologic,Neoplasms, Hematopoietic,Blood Cancers,Cancer, Blood,Hematologic Neoplasm,Hematological Malignancy,Hematological Neoplasm,Hematopoietic Malignancy,Hematopoietic Neoplasm,Malignancy, Hematological,Malignancy, Hematopoietic,Neoplasm, Hematologic,Neoplasm, Hematological,Neoplasm, Hematopoietic

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