Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The unusual case of myeloproliferative disease described here is characterized by the following features: (1) a clinically completely silent course for 11 years without splenomegaly, marrow fibrosis, or cellular morphologic alterations; (2) the presence, at the onset, of a Philadelphia (Ph) chromosome without DNA breakpoints in the M-bcr region; (3) the spontaneous loss of detectable Ph-positive cells, 5 years after the first finding of leukocytosis, in the absence of any therapy; (4) the maintenance of the clonal nature of hematopoiesis, as revealed by the PGK X-linked inactivation pattern, in the absence of the Ph chromosome; and (5) a biphasic trend in the levels of leukocytes, red cells, and platelets during the years of observation.
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PMID:Spontaneous loss of Ph chromosome with maintenance of clonal hemopoiesis in an untreated patient with myeloproliferative disease and a long survival. 753 65

A 57-year-old man was admitted to hospital because of leukocytosis. He showed mild splenomegaly and, laboratory studies revealed elevated mature neutrophil count without morphological abnormality, mild anemia and elevated neutrophil alkaline phosphatase score. The serum granulocyte colony stimulating factor concentration was below 30 pg/ml. Bone marrow was a dry tap, and biopsy specimen revealed severe fibrosis. The peripheral blood karyotype was 46, XY with no rearrangement of bcr-abl. The patient was diagnosed as having chronic neutrophilic leukemia (CNL) with bone marrow fibrosis. He was successfully treated with hydroxyurea (HU) 1000 mg/day. The peripheral blood leukocyte was decreased to the normal level and, the bone marrow biopsy specimen changed mild fibrosis. During the follow up period of 11 months, the neutrophil count was well controlled without any side effect. This is a rare case of CNL accompanied with bone marrow fibrosis which was effectively treated by the administration of HU.
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PMID:[A case of chronic neutrophilic leukemia accompanied with severe bone marrow fibrosis which was effectively treated by hydroxyurea]. 782

We report here two cases of a previously undescribed myeloproliferative disorder. Both were young adult males who presented with generalized lymphadenopathy, splenomegaly, leukocytosis, polycythemia, and persistent thrombocytopenia. The leukocyte alkaline phosphatase (LAP) score was low in both cases, and the bone marrow was hypercellular without dysplasia or fibrosis, but lacked the Philadelphia chromosome, BCR gene rearrangement, or other karyotypic abnormalities. The clinical course was indolent in each case. One patient died from an unusual "blast crisis" after 12 years, while the second patient remains in a complete hematologic remission on hydroxyurea and alpha interferon 4 years from diagnosis. Interestingly, changes in therapy in this patient have consistently resulted in precise and concerted fluctuations in his blood counts, with the red and white cells cycling together and the platelets and mean corpuscular volume (MCV) changing concomitantly but in the opposite direction. This unique myeloproliferative disorder is distinguishable from all previously described forms of chronic myeloid leukemia and other myeloproliferative syndromes.
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PMID:A new myeloproliferative syndrome. 786 27

Diagnosis of chronic myeloproliferative disorders (CMPD) can encounter difficulties due to overlaps and possible transitions between the different entities and their similarity to reactive myeloproliferations. In this study DNA analysis has been applied to improve differentiation of CMPD. All subtypes of CMPD analyzed, including chronic myeloid leukemia (CML), agnogenic myeloid metaplasia (AMM), polycythemia vera (PV), and essential thrombocythemia (ET), had in common that granulocytes and bone marrow cells were clonal in origin as shown by X-chromosome-linked DNA polymorphism in conjunction with methylation patterns. Reactive myeloproliferations, by contrast, revealed a polyclonal inactivation pattern. Clonality could not distinguish CMPD from cases of myelodysplastic syndrome (MDS) since the latter also exhibited clonal hematopoiesis. AMM belongs to the group of myeloproliferative syndromes. Up to now the cellular phase at onset of the disease (megakaryocytic myelosis) has not been analyzed for clonality of the hematopoietic cells. Granulocytes as well as bone marrow cells from the cellular phase and advanced stages of the disease revealed a monoclonal inactivation pattern of X-chromosomal genes. These results show that the cellular phase already represents a monoclonal, and hence probably a neoplastic, proliferation of a pluripotent stem cell. The monoclonality of granulocytes could also be demonstrated in patients with splenomegaly and strongly argues against a compensatory proliferation of regular hematopoiesis in this organ. Because of their clonal origin, peripheral granulocytes were used in all cases (n = 244) for the detection of bcr-gene rearrangement. Despite possible morphological overlaps between different types of CMPD, bcr-gene rearrangement proved to be specific for CML and could be applied to differentiate CML from other CMPD in cases of uncertain morphological diagnosis. It is concluded that CMPD represent clonal hemopoietic disorders that probably have specific underlying genetic defects. Thus, DNA analysis can substantially aid in the differential diagnosis of CMPD.
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PMID:[Histopathology and molecular pathology of chronic myeloproliferative disorders]. 837 86

A 53-year-old male was admitted to our hospital with abdominal pain. Physical examination revealed marked splenomegaly. The white blood cell count increased to 5.8 x 10(4)/microliters. Bone marrow biopsy showed hypercellularity with a moderate increase in reticulin fiber. Chromosomal analysis showed 47, XY, +9q-, -9q- without Ph1 chromosome and bcr-abl rearrangement. MCNU therapy was successful in reducing the white blood cell count and splenomegaly. It is likely that the diagnosis of our patient is compatible with the neutrophilic myelofibrosis described by Stewart, et al.
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PMID:[Neutrophilic myelofibrosis; a case report]. 841 51

A case of abnormal chromatin clumping (ACC) which arose during the course of a myelodysplastic/myeloproliferative syndrome is described in a 61 year old woman who died of haemorrhage 43 months after diagnosis. Mature granulocytes exhibited the same nuclear abnormality described in other patients reported. Unusually, she presented with advanced splenomegaly and lymphadenopathy. This case was the third example of ACC in lymphocytes, the first with clinically confirmed lymphadenopathy. Diagnosis of this subset can be based on: older age; short duration of symptoms; no specific karyotypic damage; non-rearranged bcr; proliferative growth pattern in vitro; numerous circulating myelocytes; profound thrombocytopenia.
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PMID:Lymph node disease with lymphocytic abnormal chromatin clumping in a myelodysplastic/myeloproliferative syndrome. 845 40

Trisomy 13, as a sole karyotypic abnormality in acute leukemia, has been reported in several cases. However, in chronic myelogenous leukemia (CML), only two cases with this abnormality were reported so far. We describe herein a 68-year-old case with Philadelphia chromosome-negative CML and trisomy 13. Leukocytosis was pointed out during the treatment for other diseases. After 7 months, abrupt increase in leukocyte count (108,000/microliters) and splenomegaly developed. Decreased neutrophil alkaline phosphatase activity and morphological features fulfilled the diagnostic terms for CML. However, the karyotypic analysis revealed trisomy 13 instead of Philadelphia chromosome, and the BCR gene rearrangement was not detected. In cases with acute leukemia accompanied by trisomy 13, malignant transformation of an immature hematopoietic precursor cell has been suggested by the expression of antigens characteristic of both the myeloid and lymphoid lineage. In a few cases with myelodysplastic syndrome, a multipotent stem cell disorder, trisomy 13 has also been reported. From these standpoints, there might be a possibility that trisomy 13 as a sole abnormality in hematologic disorders would be related to tumorigenesis in the levels of multipotent stem cells.
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PMID:[Philadelphia chromosome-negative chronic myelogenous leukemia with trisomy 13]. 869 71

Although a breakpoint in the minor breakpoint cluster region (m-bcr) of the BCR gene is observed in about two-thirds of patients with Philadelphia chromosome-positive acute lymphoblastic leukemia, this type of genomic rearrangement occurs very rarely in chronic myeloid leukemia (CML). We describe here the eighth case of m-bcr CML, and delineate unique clinical characteristics found in common to the 7 cases reported previously. Monocytosis with a low neutrophil/monocyte ratio resembling chronic myelomonocytic leukemia was the most striking feature of m-bcr CML. Splenomegaly and basophilia were not conspicuous in chronic phase. A high percentage of immature granulocytes and low neutrophil alkaline phosphatase score were the findings in common with classical CML. Lymphoid and myeloid blast changes have been observed at and shortly after presentation so far. We found a hybrid type of blast crisis in the course of m-bcr CML.Thus, m-bcr CML may be a definite subtype of CML, exhibiting distinct clinical characteristics. The presence of fusion product of m-bcr mRNA in an earlier myeloid cell may involve monocytic lineage in addition to myeloproliferative defects.
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PMID:Chronic myeloid leukemia with minor-bcr breakpoint developed hybrid type of blast crisis. 954 77

Two cases of polycythemia vera (PV) had transition to a hematological condition compatible with chronic neutrophilic leukemia (CNL) 17 and 8 years after diagnosis, respectively. One patient was treated with carboquone followed by hydroxyurea (HU) and the other with HU during PV phase. On transition, both had neutrophilia with white blood cell count above 40,000/microl, elevated neutrophil alkaline phosphatase activity, splenomegaly, normal karyotype without bcr-abl rearrangement. Busulfan was temporally effective in controlling the neutrophil count. However, one patient progressed to the so-called spent phase and the other subsequently had multiple transitions between PV and CNL. These cases may represent a form of uncommon evolution of PV and support the contention that CNL is a type of myeloproliferative disorder and that at least some CNL cases have derangement at the hematopoietic stem cell level.
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PMID:Transition of polycythemia vera to chronic neutrophilic leukemia. 1019 40

To characterize the toxicity of phosphorothioate antisense oligodeoxynucleotides ([S]ODNs) in vivo, the mice received intravenously 26-mer bcr-abl antisense oligodeoxynucleotides (1 mg/mice/day) for 9 consecutive days. The organs and tissues were removed on the indicated days (+1, +7, +30) after the treatment. Our investigation revealed middle elevation of aminotransferases activity, lactate dehydrogenase level, total protein level and globulin level, decrease of glucose, albumin and blood urea nitrogen level in the peripheral blood. The mild anaemia and thrombocytopenia were observed too. The most significant treatment-related findings in the antisense treated mice were splenomegaly, reactive hepatitis and atrocytosis of kidney. These findings together with previous results demonstrate little and temporary toxicity effects mainly in organs known from cumulating of [S]ODNs.
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PMID:[Adverse effects of parenteral administration of antisense oligonucleotides]. 1186 87


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