Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The criteria of the Polycythemia Vera Study Group (PVSG), although acknowledged as the gold standard to establish the diagnosis of polycythemia vera (PV), do not regard bone marrow (BM) histopathology. Arguments include the existence of sufficient objective markers of disease and the lack of independently performed morphological studies or standardized criteria. The aim of this review is to evaluate morphological characteristics of erythrocytosis and to determine whether distinctive patterns of histopathology exist. A review of the pertinent literature and evaluation of 334 patients from our files with a borderline to marked increase in hemoglobin was performed. In extension to former descriptions of BM features by the PVSG, a tri-lineage myeloproliferation (panmyelosis) with a pleomorphous appearance of megakaryopoiesis revealed that, besides increase in size, there was a lack of gross cytological anomalies. Differentiation from secondary polycythemia (SP) was accomplished by regarding these features and the conspicuously expressed stromal changes (plasmacytosis, eosinophils, cell debris and iron deposits). In about 96% of this cohort a clear-cut separation from SP was achieved, even in the initial (latent) stages. When accompanied by an elevated platelet count, these precursor stages may clinically mimick essential thrombocythemia because they are not recognized by the conventional criteria. Advanced stages (spent phases) of PV were consistent with an increased left-shifted granulocytic proliferation, accompanied by reduction of erythroid precursors and progressive myelofibrosis (post-polycythemic myeloid metaplasia). Finally, an increase in dysplastic changes and immaturity signalled a transition into blastic crisis. In conclusion, PV is characterized by a distinctive pattern of histopathology that has been gained in an independent and blind fashion and therefore, dissolves arguments about failing specificity.
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PMID:Diagnostic impact of bone marrow histopathology in polycythemia vera (PV). 1557 48

The diagnostic criteria of the Polycythemia Vera Study Group do not consider bone marrow histopathology, nor do they recognize the dynamics of polycythemia vera (PV). Precursor stages, when accompanied by an elevated platelet count, may clinically mimic essential thrombocythemia. Significantly extending former descriptions of bone marrow features, a trilineage myeloproliferation (panmyelosis) with a pleomorphous appearance (differences in size) of megakaryopoiesis is a characteristic histopathologic finding in PV. Differentiation from secondary polycythemia is accomplished by also considering the conspicuously expressed stromal changes (perivascular plasmacytosis, eosinophils, cell debris, and iron deposits). A clear-cut discrimination is possible, even in the initial (latent) stages of PV, which do not fulfill all the conventional diagnostic criteria. Advanced stages (spent phases) of PV show an increased left-shifted granulocytic proliferation accompanied by reduction of erythroid precursors and progressive myelofibrosis (postpolycythemic myeloid metaplasia). Finally, an increase in dysplastic changes and immaturity of cell lineages signals a transition into blastic crisis.
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PMID:Is it justified to perform a bone marrow biopsy examination in sustained erythrocytosis? 2042 37

A 10-year-old boy presented with spontaneous bruising and was found to have extreme thrombocytosis without neutrophilia/shift to immaturity, basophilia or eosinophilia. While the peripheral blood and bone marrow findings initially suggested essential thrombocythemia, BCR-ABL1 translocation was detected and chronic myeloid leukemia, chronic phase, was diagnosed. Apheresis for platelet depletion was performed as a bridge given the delayed effects of medical therapy.
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PMID:Pediatric Chronic Myeloid Leukemia Presenting With Extreme Thrombocytosis Simulating Essential Thrombocythemia. 2966 50

Chronic myelogenous leukemia (CML) is a pluripotent stem cell disease characterized by anemia, granulocytosis and granulocytic immaturity, basophilia, thrombocytosis and splenomegaly. It is associated with a reciprocal chromosomal translocation t (q34; q11), resulting in a breakpoint cluster region-Abelson fusion gene (Philadelphia chromosome). Ophthalmic manifestations as the first and the only presentation of CML in patients are very rare. Ocular lesions in CML patients are frequently asymptomatic, and thus all patients should undergo an eye evaluation at the initial diagnosis. Here, we report a previously healthy 36-year-old Saudi male who initially presented with progressive loss of vision. On examination, he was found to have a bilateral retinal hemorrhage. The investigations revealed findings consistent with CML. The patient was treated with tyrosine kinase inhibitors, and he had complete remission, including full recovery of his vision.
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PMID:Sudden Visual Loss as an Initial Manifestation of Chronic Myeloid Leukemia. 3078 3