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 60-year-old woman was admitted in August 1995 complaining of abdominal pain. A diagnosis of essential thrombocythemia had been made in 1987, and myelofibrosis developed in the patient thereafter. Physical examination revealed massive hepatosplenomegaly, and the peripheral blood showed leukoerythroblastosis with chromosomal abnormalities in peripheral blood cells. In May, 1996, blastic transformation occurred. Based on the findings of surface marker analysis, the blasts met the diagnostic criteria for acete myelogenous leukemia because they were negative for peroxidase and positive for CD13. In June, the patient died of multiple organ failure. Postmortem examination revealed multiple tumor emboli.
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PMID:[Transformation of myelofibrosis into acute myelogenous leukemia (M0) with multiple tumor emboli]. 978 83

There has not been a reported series of children with therapy-induced myelodysplastic syndrome/acute myeloid leukemia (tMDS/tAML) who were treated systematically. This paper describes 24 children with tMDS/tAML who were assigned randomly to standard- or intensive-timing induction on protocol CCG 2891. Presenting features and outcomes of those children were compared with those of 960 patients with de novo MDS (62 patients) or AML (898 patients). Children with tMDS/tAML were older at presentation (P =.015), had lower white blood cell counts (P =.01), and were more likely to have MDS (21% vs 7%) (P =.02) and trisomy 8 (P =.06). Fewer had hepatomegaly (P =.02), splenomegaly (P =.03), hepatosplenomegaly (P =.02), or classic AML translocations [t(8;21), t(15;17), 16q22; P =.02]. They had a poorer induction rate (50% vs 72%, P =.016), overall survival (26% vs 47% at 3 years, P =.007), and event-free survival (21% vs 39% at 3 years, P =.023). Disease-free survival after achieving remission was similar (45% vs 53%, P =.868). Children with tMDS/tAML who received intensive-timing induction had better outcomes than those who received standard-timing induction (overall survival 32% vs 0%, P =.54). In this study, the latency period to development of tMDS/tAML was the same for presumed alkylator-induced as for topoisomerase-induced myeloid leukemia. The findings of this study confirm that most children with tMDS/tAML have disease resistant to current therapies. Standard-timing induction appears less effective for this population.
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PMID:Acute myeloid leukemia and myelodysplastic syndrome in children treated for cancer: comparison with primary presentation. 1209 32

Hematologic abnormalities are common in individuals with Down syndrome (DS). Increased erythrocyte mean corpuscular volume (MCV) is frequently found among DS infants and remains elevated throughout life in two-thirds of patients, making interpretation of red cell indices for diagnosis of nutritional anemias or bone marrow failure disorders more challenging. Transient myeloproliferative disorder (TMD) associated with pancytopenia, hepatosplenomegaly, and circulating immature WBCs, is found almost exclusively in DS infants with an incidence of approximately 10%. In most cases, TMD regresses spontaneously within the first 3 months of life, but in some children, it can be life threatening or even fatal. Despite the high rate of spontaneous regression, TMD can be a preleukemic disorder in 20-30% of children with DS. The types of malignancy, response to therapy, and clinical outcome in children with DS are also unique. There is an increased risk of leukemia with an equal incidence of lymphoid and myeloid leukemia. Acute megakaryocytic leukemia (AMKL) subtype is the most common form of acute myeloid leukemia (AML) in this setting, and is uncommon in children without DS. Somatic mutations of the gene encoding the hematopoetic growth factor GATA1 have been shown to be specific for TMD and AMKL in children with DS. Myelodysplastic syndrome can precede AML. Children with DS and leukemia are more sensitive to some chemotherapeutic agents such as methotrexate than other children which requires careful monitoring for toxicity. Although the risk for leukemia is higher in individuals with DS, these patients have a lower risk of developing solid tumors, with the exception of germ cell tumors, and perhaps retinoblastoma and lymphoma.
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PMID:Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. 1704 54

This manuscript reports on five cases of spontaneous myelogenous leukemia, similar to human disease, occurring within highly inbred, histocompatible sublines of Massachusetts General Hospital (MGH) MHC-defined miniature swine. In cases where a neoplasm was suspected based on clinical observations, samples were obtained for complete blood count, peripheral blood smear, and flow cytometric analysis. Animals confirmed to have neoplasms were euthanized and underwent necropsy. Histological samples were obtained from abnormal tissues and suspect lesions. The phenotype of the malignancies was assessed by flow cytometric analysis of processed peripheral blood mononuclear cells and affected tissues. Five cases of spontaneous myeloid leukemia were identified in adult animals older than 30 months of age. All animals presented with symptoms of weight loss, lethargy, and marked leukocytosis. At autopsy, all animals had systemic disease involvement and presented with severe hepatosplenomegaly. Three of the five myelogenous leukemias have successfully been expanded in vitro. The clustered incidence of disease in this closed herd suggests that genetic factors may be contributing to disease development. Myelogenous leukemia cell lines established from inbred sublines of MGH MHC-defined miniature swine have the potential to be utilized as a model to evaluate therapies of human leukemia.
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PMID:Myelogenous leukemia in adult inbred MHC-defined miniature swine: a model for human myeloid leukemias. 2007 39

Nonleukemic myeloid sarcoma (MS) is a rare tumor that can occur in several locations without myeloid leukemia. We reported a first case of nonleukemic MS of the spleen involving the liver in a 5-month-old boy presenting with hematochezia, petechial hemorrhage, fever, and hepatosplenomegaly. Bone marrow trephine biopsy and immunophenotypic flow cytometry revealed no evidence of myeloid leukemia. The patient underwent liver biopsy and splenectomy. Clinicopathology and immunohistochemistry suggested a disseminated nonleukemic MS. The patient died of respiratory failure on the seventh postoperative day. Early diagnosis of a disseminated nonleukemic MS may be quite important for patient survival and it should be considered one of the differential diagnoses of hepatosplenomegaly with atypical clinical features.
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PMID:Disseminated Nonleukemic Myeloid Sarcoma of the Spleen With Involvement of the Liver in an Infant. 2812 48


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