Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A series of 20 patients with granular lymphocyte proliferative disorders (GLPD) is reported. The criterion of inclusion was presence of persistent (> or = 6 months) granular lymphocytosis in the absence of any causative illness. Diagnoses made upon analytical control in half the patients of splenomegaly (25%) and hepatomegaly (25%) were infrequent. Clinical course was nonprogressive in 17/20 patients, but two developed high-grade NHL several years later and one showed progressive disease. Actuarial probability of survival at 5 years was 85%. Granular lymphocyte morphology was relatively homogeneous, and peripheral blood counts were preserved in the most patients. Bone marrow lymphocytic infiltration was low, as assessed by bone marrow aspiration and/or biopsy. Eosinophilia was an outstanding feature in eight cases. Ultrastructurally, all cases showed parallel tubular arrays; cytoplasmic granules and numerous short microvilli were noticed. The lymphoid phenotype was heterogeneous, the most common being CD2+CD3+CD4-CD8+, but six patients (30%) were CD4+ with variable expression of natural killer-associated antigens. Chromosomal analysis was abnormal in 4/10 patients [trisomy 19, t(5;6); inv(14) and inv(10)]. The study of beta-chain of the T-cell receptor revealed clonal rearrangements in 14 (78%), restricted to CD3+ patients (92%). In vitro culture of myeloid precursors showed decreased CFU-GM in 5/6 patients. Virological studies for HTLV-I and II were negative. In conclusion, the presence of a clonal proliferation was not correlated with the clinical course or an associated disease.
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PMID:Granular lymphocyte proliferative disorders: a multicenter study of 20 cases. 791 27

The clinical, biological, and immunophenotypical characteristics of B-cell chronic lymphocytic leukemia (B-CLL) patients with trisomy 12 detected by fluorescence in situ hybridization (FISH) using a chromosome 12 alpha-centromeric probe (D12Z3) were analyzed in the present study. From a total of 104 consecutive B-CLL patients, 21 (20%) displayed trisomy 12, the percentage of trisomic cells ranging from 13% to 76%. From the clinico-biological point of view, patients with trisomy 12 were associated with atypical CLL morphology (43% vs 10%, P = 0.04) and BM diffuse pattern (75% vs. 25%, P = 0.02) together with increased WBC counts (141 +/- 220 vs. 58 +/- 67 x 10(9)/L, P = 0.04). In contrast, no association was detected between the presence of trisomy 12 and other disease characteristics such as age, sex, clinical stage, hepatomegaly, lymphadenopathies, haemoglobin levels and platelet counts, and the cell cycle distribution of PB leukocytes in both groups of patients. Trisomy 12 patients had a significantly higher expression of the FMC7 antigen both in percentage (34 +/- 34% vs. 13 +/- 20%, P = 0.02) and absolute numbers (29 +/- 62 vs. 7 +/- 17 x 10(9)/L, P = 0.007). No major differences were found regarding the expression of mouse rosettes, CD19+, and CD19+/CD5+ lymphocytes. Upon analyzing the correlations between the disease characteristics of trisomy 12 cases, significant associations were found between the percentage of trisomic cells and both the WBC count (r = 0.52, P = 0.02) and the PB lymphocyte count (r = 0.60, P = 0.007).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical, biological, and immunophenotypical characteristics of B-cell chronic lymphocytic leukemia with trisomy 12 by fluorescence in situ hybridization. 855 53

The incidence of trisomy 12 and p53 deletion was studied in a group of chronic B-lymphocytic leukemia (B-CLL) patients, using fluorescence in situ hybridization (FISH). Trisomy 12 was detected in eight of 50 patients (16%) and p53 deletion in six of 38 cases analyzed (15.8%). A statistically significant difference was observed between the incidence of trisomy 12 in patients with typical and atypical morphology (3.03% versus 41.18%). No correlation was found between this alteration and the rest of the clinical and biological parameters studied (adenopathies, hepatomegaly, splenomegaly, lymphocyte count, staging, CD11c expression, and resistance to chemotherapy). The p53 deletion was correlated with the presence of hepatomegaly and splenomegaly, advanced stage of disease, and resistance to conventional chemotherapy. The application of FISH to whole blood cell nuclei, without prior manipulation or culture, showed a higher percentage of cells with trisomy 12 than when the method was used following culture. We conclude that 1) FISH is a simple and sensitive technique for the detection of numerical and structural chromosome abnormalities; 2) Its application to uncultured samples obviates the alteration of results originated by the probable growth advantage of the normal or neoplastic cell population in vitro; 3) Trisomy 12 appears to define a B-CLL subgroup of atypical morphology; and 4) The p53 deletion is correlated with advanced stage of disease and resistance to treatment.
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PMID:Trisomy 12 and p53 deletion in chronic lymphocytic leukemia detected by fluorescence in situ hybridization: association with morphology and resistance to conventional chemotherapy. 883 Jul 19

To date, neither the clinical significance of isolated trisomy 8, the most frequent trisomy in acute myeloid leukemia (AML), nor the effect of age within a single cytogenetic group has been examined. We report a large cohort of adult trisomy 8 patients and examine whether increasing age within a homogeneous cytogenetic group alters clinical outcome. Characteristics and outcome of patients with isolated trisomy 8 enrolled in the prospective Cancer and Leukemia Group B (CALGB) cytogenetic study CALGB 8461 are described. Isolated trisomy 8 was identified in 42 (3.03%) of 1387 patients enrolled in five CALGB treatment protocols. These patients had a median age of 64 (range, 16-79) years, 50% female proportion, and a low frequency of hepatomegaly (10%) or splenomegaly (10%). Laboratory features included a median white blood count of 7.3 x 10(9)/L, nonspecific French-American-British distribution, with 36% of patients having Auer rods. Treatment outcome was unsatisfactory with a complete remission (CR) rate of 59%, median CR duration of 13.6 months, and median survival of 13.1 months. Older age adversely affected outcome; trisomy 8 patients > or =60 years had both an inferior CR rate (40% versus 88%; P = 0.004) and overall survival (median, 4.8 versus 17.5 months; P = 0.01), as compared with those <60 years of age. Of the patients <60 years of age, only four remain alive, and all received noncytarabine-based intensive chemotherapy, followed in three cases by autologous (n = 2) or allogeneic (n = 1) stem cell transplant in CR1. Adults with AML and isolated trisomy 8 have a poor outcome that is accentuated by increasing age and is rarely cured with cytarabine-based therapy. Alternative investigational treatments should be considered for individuals with this AML subset.
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PMID:Patients with isolated trisomy 8 in acute myeloid leukemia are not cured with cytarabine-based chemotherapy: results from Cancer and Leukemia Group B 8461. 960 82

Trisomy 3 has been reported to be associated with marginal zone B-cell lymphoma. However, its occurrence and significance in other B-cell chronic lymphoproliferative disorders has not been fully defined. We report five cases of B-cell chronic lymphoproliferative disorders showing gain of chromosome 3 or 3q. The patients were elderly males who presented with splenomegaly with or without hepatomegaly and lymphadenopathy. The diagnoses included chronic lymphocytic leukemia (3 cases), prolymphocytic leukemia (1 case), and Waldenstrom macroglobulinemia (1 case). Distinctive feature in this group of patients was the plasmacytoid appearance of the leukemic lymphocytes, with an associated IgM hypergammaglobulinemia in three patients. The relationship between the gain of chromosome 3 and plasmacytoid differentiation in B-cell chronic lymphoproliferative disorders is discussed.
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PMID:Gain of chromosome 3/3q in B-cell chronic lymphoproliferative disorder is associated with plasmacytoid differentiation with or without IgM overproduction. 1216 58

A newborn male patient with trisomy-21 presented with bilious hemesis. The patient was icteric with slight hepatomegaly. Simple abdominal X-ray and upper gastrointestinal series with barium showed a dilated duodenal loop and inflammatory changes involving the duodenal mucosa. This image known as "double bubble" is characteristic of congenital duodenal obstruction. Simultaneously the gallbladder and choledochus were visualized. The former X-ray finding is very unusual. An uneventful Kimura procedure was performed.
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PMID:[Oral cholangiography and duodenal atresia]. 1671 53

We report the first case of a fetus with acute myeloid leukemia, without Down syndrome, diagnosed in utero. A cordocentesis sample prepared to investigate hepatomegaly led to further evaluations revealing acute myeloid leukemia, monocytic type, in the fetus. Cytogenetic analysis showed mixed lineage leukemia duplication, no gene disruption or trisomy. Planned treatment included intrauterine exchange transfusion to extend gestation, low-dose chemotherapy at birth, and full chemotherapy once stable. Before any intervention, the child was delivered emergently for maternal condition and died 2 hours later. Although it is now possible to diagnose hematologic malignancy in a fetus, there is little information to direct management.
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PMID:Prenatally Diagnosed Infant AML. 2867 91