Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is reported of an adult male patient with acute leukemia characterized by the presence of the novel cytogenetic abnormality, t(2;9)(p12;p23), in addition to a t(4;11)(q21;q23). The immunophenotype of the blast cell population was consistent with immature early pre-B cell acute lymphoblastic leukemia (ALL) (TdT+,HLA-DR+,CD19+,CD24 +/-,CD10-) expressing myelo-monocytic antigens (CDw65,CD15). The genotype showed a clonal rearrangement of the immunoglobulin heavy chain locus. Because the immunoglobulin kappa (kappa) light chain gene is located on chromosome 2 at band p12 and interferon alpha (alpha) and beta (beta) map to chromosome 9p21-p22, rearrangements of these loci as a result of the t(2;9) were studied. There was no evidence for rearrangement of the region covering about 40 kilobases around the kappa locus when hybridized to C(kappa), the 3' kappa enhancer or the kappa deleting element. Only germline size restriction fragments were also found for the interferon alpha and beta genes. The patient's clinical features were typical for ALL associated with the t(4;11), including a high white blood cell count at presentation, hepatosplenomegaly, and a poor outcome. The potential significance of 2p and 9p abnormalities in addition to t(4;11) is discussed.
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PMID:Translocation (2;9)(p12;p23) in a case of acute leukemia with t(4;11)(q21;q23). Lack of rearrangement of the kappa and interferon gene loci. 137 31

A clinicopathological study was performed on 90 patients (39 males - 51 females, age 68 years) with primary (idiopathic) myelofibrosis - osteomyelosclerosis (OMF) in order to correlate laboratory and histomorphological parameters with each other and to calculate factors of prognostic impact on survival. In addition to multiple interactions between various laboratory features, there was a significant correlation between degree of medullary fibrosis and osteosclerotic changes with sizes of spleen and liver, level of LDH and duration of relevant prediagnostic symptoms. In trephine biopsies of the bone marrow, reduction of hematopoietic tissue was assessed by evaluating the amount of fat cells plus the degree of osteosclerotic lesions. This histological parameter did not reveal significant relationships with hepatosplenomegaly, duration of relevant symptoms or length of disease, but was correlated with the clinical findings of bone marrow failure. On univariate analysis, several clinical (age greater than 45 years, presence of relevant prediagnostic symptoms, hemoglobin level less than 9 g/dl, counts of myelo- and normoblasts, thrombocyte count less than 100 and greater than 700 x 10(9)/l, spleen size and LDH level) and histological features (reduction of hematopoiesis, counts for megakaryocytes and lymphoid nodules) were found to exert a predictive value on prognosis. However, on multivariate regression analysis only age remained significant. This result apparently reflects the numerous interactions between the various clinical as well as histological variables tested.
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PMID:Primary myelofibrosis-osteomyelosclerosis (agnogenic myeloid metaplasia): correlation of clinical findings with bone marrow histopathology and prognosis. 275 Dec 68

We present a case of a 17-year old patient with extreme hepatosplenomegaly, hyperthrombocytosis, hyperleucocytosis and the presence of myelo- and megakaryoblasts in the peripheral blood film. Numerous complications that occurred in the course of the disease made cytostatic treatment difficult. Since Ph chromosome and hybrid gene bcr/abl were absent, the diagnosis of unclassified chronic myeloproliferative syndrome in the phase of blast crisis was established. Immunophenotyping confirmed a mixed myelo- megakaryoblastic character of the crisis. In the differential diagnosis other myeloproliferative syndromes were taken into account including i(17q) syndrome. The patient died after a 13-month observation due to neoplasm progression and sepsis.
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PMID:[Unclassified chronic myeloproliferative Ph(-); i(17q); +8 syndrome with mixed myelo-megakaryoblastic crisis--case report]. 862 49