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

The reciprocal translocation (9;22)(q34;q11) is highly characteristic of chronic myeloid leukemia (CML) and the pericentric inversion inv(16)(p13q22) is almost only found in acute nonlymphocytic leukemia of the myelomonocytic subtype (ANLL M4). Only twice before have an inv(16) and a t(9;22) been found in the same cells, and both times the patients seemed to have de novo ANLL M4. We describe the case of a 21-year-old man who in July 1986 presented with a clinically and hematologically classic chronic phase CML. Treatment with busulfan led to no improvement; instead in September 1986 he developed blast crisis with ANLL M4Eo morphology. He was now cytogenetically examined and the karyotype 45,X,-Y,t(9;22)(q34;q11),inv(16)(p13q22) was found. Southern blot analysis of the bone marrow DNA sampled at this time revealed a standard rearrangement in the 3' end of the M-bcr. Intensive cytostatic treatment caused cytopenia followed by complete hematologic, clinical, and cytogenetic reversal to chronic phase CML, so that in January 1987 the bone marrow karyotype was 46,XY,t(9;22)(q34;q11). Persistent splenomegaly was treated with splenectomy, and a chloroma of the skin was removed by irradiation. In March 1987 he received an allogeneic bone marrow transplant. Since then his only medical problem has been mild graft-versus-host disease; he is well and is working full time as a blacksmith.
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PMID:Acute myelomonocytic leukemia with inv(16)(p13q22) complicating Philadelphia chromosome positive chronic myeloid leukemia. 155 89

To identify adults with acute nonlymphocytic leukemia at risk for the development of central nervous system involvement, we performed periodic cerebrospinal fluid examinations on patients in remission. Among 58 consecutive patients monitored during first remission, central nervous system leukemia developed in nine (16 percent). Four patients, including one who was symptomatic, had central nervous system leukemia detected simultaneously with marrow relapse. Five additional patients were asymptomatic and continue to have bone marrow remission. Following central nervous system and systemic treatment, two of these five patients have never had relapse, and three had relapse in the bone marrow five, 10, and 21 months later. Factors at diagnosis associated with the subsequent development of central nervous system leukemia were elevated leukocyte count, serum lysozyme and lactate dehydrogenase, extramedullary infiltration including splenomegaly, and monocytic (FAB M4 or M5a) morphology. In six of 17 patients (35 percent) with monocytic morphology, central nervous system leukemia developed compared with only three of 41 patients (7 percent) with other subtypes (p = 0.02). Discriminant analysis identified leukocyte count, splenomegaly, and M4 or M5a morphology as the most important risk factors and led to a mathematical formula that correctly identified 90 percent of the patients. Although the risk of central nervous system leukemia in adults with acute nonlymphocytic leukemia is too low to justify routine prophylaxis, those patients recognized to be at a greater risk should receive prophylaxis or be monitored closely with periodic lumbar punctures.
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PMID:Central nervous system involvement in acute nonlymphocytic leukemia. A prospective study of adults in remission. 366 83

Platelet transfusions are an important supportive measure during treatment for acute nonlymphocytic leukemia (ANLL). The presence of splenomegaly may produce decreased posttransfusion platelet increments leading some to recommend an increased dose of platelets per transfusion in this situation. Forty-nine newly diagnosed patients with ANLL were evaluated during 1980 and 1981, and 24% had palpable splenomegaly. Although treated with usual doses of platelets per transfusion, there was no detectable statistical increase in transfusion requirement or incidence of hemorrhage in patients with splenomegaly. Experimental evidence indicates that the splenic platelet pool enlarges with splenomegaly, but the life span of circulating platelets is not significantly changed. Furthermore, the splenic platelet pool is in dynamic equilibrium with the circulating platelet pool thus allowing these platelets to participate in hemostasis. Although posttransfusion increment in platelet count may be less, it appears that platelet transfusion therapy need not be altered solely because of splenomegaly.
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PMID:Platelet transfusion therapy in acute leukemia: lack of effect of splenomegaly on transfusion requirements and risk of hemorrhage. 397 47

Review of 5406 children with acute lymphoblastic (ALL) or nonlymphoblastic leukemia (ANLL) registered with Childrens Cancer Study Group (CCSG) since 1972 identified 115 patients (2.1%) with Down syndrome. The proportion of patients with Down syndrome was the same for ALL (2.1%) and ANLL (2.1%). Patients with ALL with and without Down syndrome did not differ significantly with respect to age at diagnosis, sex, race, morphology (FAB classification), cell surface markers, initial white blood cell count, pretreatment hemoglobin value, hepatomegaly, lymphadenopathy, presence of mediastinal mass, CNS disease at diagnosis, or prognostic group as defined by age and initial white blood cell count. Patients with ALL-Down syndrome less frequently had splenomegaly, had lower pretreatment platelet counts, and more often had normal or elevated IgG or IgA levels. In addition, they had a significantly lower rate of remission (81% versus 94%), a higher mortality during induction therapy (14% versus 3%), and a poorer overall survival with 5-year life table rates of 50% versus 65% (P less than 0.001). If an initial remission was achieved, there were no significant differences with respect to remission duration, survival, or disease-free survival. Patients with ANLL-Down syndrome were younger at diagnosis than those without Down syndrome. There was no significant difference in the remission rates between these patients. Analysis of findings in patients with ANLL provided results similar to those obtained for patients with ALL with regard to clinical outcome after achievement of an initial remission.
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PMID:Down syndrome and acute leukemia in children: a 10-year retrospective survey from Childrens Cancer Study Group. 623 37

40 children (23 males, 17 females) have been diagnosed have ANLL during the period from february 1970 to september 1981. According to FAB classification, 24 cases were M1,-M2, 9 M3, 3 M4, 3 M5 and 1 M6. At diagnosis, 20 patients (50%) had leukocytes less than 10.000/mmc, 6 (15%) had leukocytes greater than 50.000mmc. Hb levels was 7 g% in 16 patients (40%); 10 children had hepatosplenomegaly (25%), 7 splenomegaly (18%) and 5 lymphoadenomegaly (13%). 4 patients had cutaneous or mucous infiltrates. None had meningeal involvement at diagnosis. According to the year of diagnosis, 3 groups can be identified. In the group I (1970-73), 11 patients have been treated with not codified combination chemotherapy as ARA-C, 6-TG, DNR, CTX, Metil-GAG. In the group II (1974-76) and in the group III (1977-81), the patients (respectively 12 and 17) have been treated according to the following protocols: LAM-5 (3), TRAP (5), COAP (1), LAM 80 (2), AIL 7402 (8), AIL 7604, AIL 7801 (6). Immunotherapy has been performed in 7 cases. CNS prophylaxis (MTX i.t. +/-ARA-C +/- RT) was given in 5 patients of group II and in 6 of group III. I patients of group I (45%), 6 of group II (50%) and 13 of group III (76%) achieved CR. Median duration of remission was 5 months in the group I and in 17 in group II and III.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Acute non-lymphatic leukemia in children]. 654 20

The aim of this study was to analyse the clinical characteristics and laboratory data, treatment and prognosis of polycythemia vera (PV). A retrospective study was performed for 71 PV patients treated in our hospital during January 2001 to July 2011 including analysis of clinical characteristics, laboratory data, myelogram chromosome karyotypes, BCR/ABL and JAK2V617F genes, as well as lactate dehydrogenase (LDH) and neuron-specific enolase (NSE) levels in serum and so on. The results showed that 71 patients (37 males and 34 females with a average age of 57.8 years) were diagnosed. Thrombosis and embolism occurred in 34 patients (47.89%), hemorrhage in 10 patients (14.08%), splenomegaly occurred in 44 patients. The onset of the disease was insidious, 13 patients (18.31%) were found to have PV during the treatments for other diseases. The average hemoglobin at diagnosis was 206.31 (171 - 242) g/L. JAK2V617F mutation was detected in 31 (81.58%) of 38 patients studied. The average levels of serum LDH and NSE were higher than normal and both positively correlated with hemoglobin (P = 0.007, P = 0.005). The disease outcomes were myelofibrosis for 3 patients, death from cerebral hemorrhage for 1 patient, and death from ineffective chemotherapy in 1 patient with ANLL-M2. It is concluded that PV is a chronic myeloproliferative disorder characterized predominantly by thrombosis and hemorrhage. The serum LDH and NSE levels are higher than the normal values. It is inferred that the serum LDH and NSE levels can reflect the degree of malignant proliferation of bone marrow hematopoietic cells and also can be used as an indicator to judge the therapeutic effect of PV.
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PMID:Analysis on 71 patients with polycythemia vera. 2273 79