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)

Three cases of juvenile chronic myeloid leukemia (JCML) are reported. The patients were aged 3-4.5 years and presented with generalized lymphadenopathy, hepatosplenomegaly, anemia, thrombocytopenia, elevated white blood cell count with monocytosis, and high fetal hemoglobin level. Philadelphia chromosome was absent in two cases studied. The bone marrow showed myeloid hyperplasia with increased monocytoid cells and blasts. Biopsy or postmortem material available in two cases revealed malignant infiltration of lymph nodes, liver, spleen, lungs, intestines, and skin. The neoplastic cells ranged from cells with irregular nuclei possessing nuclear grooves to large blastic cells with round to lobulated nuclei and prominent nucleoli. They showed weak staining for acid phosphatase and nonspecific esterase and exhibited the immunophenotype EBM11+KiM1+KiM6+KiM8+CD4+HLADR+ S-100 protein+. The neoplastic cells of JCML therefore share features of dendritic cells and mononuclear phagocytes. The authors' findings show that JCML is a unique histiocytic malignancy in which S-100 protein is a useful marker.
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PMID:Juvenile chronic myeloid leukemia. A malignancy of S-100 protein-positive histiocytes. 317 74

Myelodysplastic syndromes (MDS) and myeloproliferative syndromes (MPS) of childhood are a heterogeneous group of clonal disorders of hematopoiesis with overlapping clinical features and inconsistent nomenclature. Although a number of genetic conditions have been associated with MDS and MPS, the overall contribution of inherited predispositions is uncertain. We report a retrospective study examining clinical features, genetic associations, and outcomes in 167 children with MDS and MPS. Of these patients, 48 had an associated constitutional disorder. One hundred one patients had adult-type myelodysplastic syndrome (A-MDS), 60 had juvenile myelomonocytic leukemia (JMML), and 6 infants with Down syndrome had a transient myeloproliferative syndrome (TMS). JMML was characterized by young age at onset and prominent hepatosplenomegaly, whereas patients with A-MDS were older and had little or no organomegaly. The most common cytogenetic abnormalities were monosomy 7 or del(7q) (53 cases); this was common both in patients with JMML and those with A-MDS. Leukemic transformation was observed in 32% of patients, usually within 2 years of diagnosis. Survival was 25% at 16 years. Favorable prognostic features at diagnosis included age less than 2 years and a hemoglobin F level of less than 10%. Older patients tended to present with an adult-type MDS that is accommodated within the French-American-British system. In contrast, infants and young children typically developed unique disorders with overlapping features of MDS and MPS. Although the type and intensity of therapy varied markedly in this study, the overall outcome was poor except in patients with TMS.
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PMID:Myelodysplastic and myeloproliferative disorders of childhood: a study of 167 patients. 988 7

A 13-year-old girl developed lupus nephritis and Hashimoto thyroiditis in the chronic phase of juvenile myelomonocytic leukemia (JMML). At age 7 months, she was diagnosed as having JMML based on the hepatosplenomegaly, leukocytosis, thrombocytopenia, increased levels of fetal hemoglobin, and spontaneous in vitro growth of granulocyte-macrophage progenitors. At the onset of JMML, she had hypergammaglobulinemia, antinuclear antibodies, rheumatoid factors and anti-smooth muscle antibody. She had been placed on oral 6-mercaptopurine for about 12 years, with clinical improvement. At age 13 years, she was found to have hematuria and proteinuria. She also developed arthritis and Raynaud's phenomenon as well. She had antinuclear antibodies, rheumatoid factors, LE phenomenon, beta-1C (C3) nephritic factor (C3NeF), antithyroid antibodies, and hypocomplementemia. The renal biopsy specimens revealed a diffuse increase in the mesangial cells and matrix by light microscopy, and intense staining of IgG, Clq and C3 by immunofluorescence microscopy. The hormonal study ultimately showed decreased thyroid functions. So she was diagnosed as lupus nephritis and Hashimoto thyroiditis. The patient is the first example to show close relationship between stem cell abnormalities in JMML and development of overt autoimmune disorders.
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PMID:Lupus nephritis in juvenile myelomonocytic leukemia. 1036 33

We present a case of juvenile myelomonocytic leukemia (JMML) with ocular infiltration. A 1-month-old boy presented with myeloid precursors in peripheral blood and a white blood cell count >10x10(9)/l. His peripheral blood monocyte count was >1x10(9)/l, bone marrow blasts were <20%, and no Ph chromosome was identified. The boy also presented with hepatosplenomegaly, pallor, fever, and skin rash. We diagnosed this case as JMML, although hemoglobin F was within the normal range and no spontaneous colony growth was observed from peripheral blood mononuclear cells. Neither Epstein-Barr (EB) virus nor cytomegalovirus was detected by PCR in bone marrow aspirate or peripheral blood. The patient had several lesions into which JMML cells might have infiltrated, including skin, liver, spleen, oral cavity, right lung, sigmoid colon, and both eyes. To our knowledge, this is the first reported case of JMML with ocular involvement. Since infiltration of JMML cells into both eyes causes blindness, further consideration of the timing of bone marrow transplantation (BMT) in JMML is necessary.
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PMID:A case of juvenile myelomonocytic leukemia with ocular infiltration. 1064 83

An 11-month-old patient with parvovirus infection mimicking juvenile myelomonocytic leukemia (JMML) is presented. The patient's history, presenting physical and laboratory features, was suggestive of JMML and consisted of fever, hepatosplenomegaly, lymphadenopathy, desquamation of the skin, anemia, leukocytosis with monocytosis and trilineage dysplastic findings of the peripheral blood and bone marrow. However, positive IgM titers for parvovirus B19 followed by seroconversion, negative cytogenetics and the benign follow-up of the patient suggested acute parvovirus infection as an etiologic factor for development of dysplastic features in the patient, and thus is recommended for consideration in the differential diagnosis of MDS. Although parvovirus B19 infection mimicking MDS has previously been shown in two patients with spherocytosis and one with subclinical immune deficiency; to our knowledge, the present report is the first describing the association of acute parvovirus B19 infection with dysplastic features mimicking myelodysplasia (MDS) in a child without a demonstrable underlying hematolymphoid disorder.
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PMID:Acute parvovirus B19 infection mimicking juvenile myelomonocytic leukemia. 1107 69

Juvenile myelomonocytic leukemia(JMML) is a rare myeloproliferative disorder of early childhood. It is usually characterized by peripheral monocytosis, increased level of HbF, and hypersensitivity of hematopoietic progenitors to granulocyte-macrophage colony-stimulating factor and hepatosplenomegaly. The pathogenesis of JMML has been associated with deregulated signal transduction and growth factor hypersensitivity. Allogeneic stem cell transplantation is the only curative approach but the roles of pretransplant chemotherapy, conditioning regimen and graft-versus-host disease are still unclear. Graft-versus-leukemia effect may play an essential role because withdrawal of immunosuppressive therapy and donor lymphocyte infusion was successful in the relapsed patients after transplantation.
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PMID:[Diagnosis and treatment of juvenile myelomonocytic leukemia(JMML)]. 1176 46

An association exists among neurofibromatosis 1 (NF1), juvenile xanthogranulomas (JXGs), and juvenile myelomonocytic leukemia (JMML). The authors describe a patient with the triple association of JXG, NF1, and JMML initially presenting with features of hemophagocytic lymphohistiocytosis (HLH). An 18-month old boy had multiple cutaneous and gastrointestinal JXG and NF1. At 3 years of age he developed anemia, thrombocytopenia, and hepatosplenomegaly. A bone marrow biopsy revealed features of HLH. Despite chemotherapy, he went on to develop JMML, which proved fatal.
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PMID:Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas. 1534 87

We described a two-year-old boy who developed a skin infiltration from JMML. Several indurated erythematous lesions were seen on his back on his first visit to our department. Edematous erythemas had repeatedly appeared on his auricles and feet for the previous six months. He had had a high fever for a month. Hepatosplenomegaly and superficial lymphadenopathy were recognized. Laboratory investigation showed leukocytosis and anemia. The diagnosis of JMML was confirmed by the findings of myeloid hyperplasia in his bone marrow and the spontaneous colony formation and GM-CSF hypersensitivity in a culture of bone marrow cells. Histopathologically, large atypical mononuclear cells were infiltrated throughout the dermis in a perivascular and interstitial distribution in a skin biopsy specimen. These cells were CD3 (-), CD20 (-), CD45 (+), CD68 (+) and myeloperoxidase (+). Bone marrow transplantation and then cord blood stem cell transplantation were performed but soon rejected. The indurated erythematous lesions appeared again soon after the relapse of JMML. There are other reported cases of JMML with skin infiltration that preceded any other manifestations of the disease. JMML cells in some patients, including our case, seem to have a great affinity for the skin, and skin biopsy aids in early detection of this disease.
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PMID:Skin infiltration of juvenile myelomonocytic leukemia. 1562 22

We report a case of juvenile xanthogranuloma (JXG) having progressive pancytopenia for 6 months until the proliferating skin lesions. A 2-month-old infant presented recurrent fever, anemia, and hepatosplenomegaly mimicking hemophagocytic lymphohistiocytosis (HLH) or juvenile myelomonocytic leukemia (JMML). At 8 months of age, the biopsy of a growing papule on the elbow made the diagnosis. Bone marrow (BM) specimens showed clustering foamy cells including hemophagocytosis by histiocytes. Treatment with etoposide followed by vinblastine plus prednisolone (PSL) therapy improved the disease. Although JXG is a benign non-Langerhans cell histiocytosis, the multisystem-visceral form should be considered as a potential aggressive disease when associated with BM failure in early infancy.
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PMID:Prolonged severe pancytopenia preceding the cutaneous lesions of juvenile xanthogranuloma. 1604 46

Leukoerythroblastosis is a rarely observed disease characterized by the presence of leukocytosis, erythroid and myeloid blast cells in peripheral blood. To our knowledge, it had not been diagnosed in a premature newborn before the case we report have.A female baby weighing 1164 grams, who was born prematurely at the 29th week of gestation by Cesarean section was referred to our newborn intensive care unit due to prematurity and respiratory distress with no prenatal pathological findings. Physical examination revealed tachypnea and hepatosplenomegaly. Routine laboratory measurements showed significant leukocytosis (85,000/mm3) and anemia (Hb: 9.6 g/dL and Hct: 27.6%). The platelet count was normal. The peripheral blood smear suggested leukoerythroblastosis with the presence of nucleated erythrocytes, monocytosis, and 4% blasts. Bone marrow cytogenetic examination was normal. Parvovirus B19 Ig G and M serology were detected to be positive. The etiological factors observed in leukoerythroblastosis occurring during neonatal and early childhood period are congenital-postnatal viral infections, juvenile myelomonocytic leukemia and osteopetrosis. To our knowledge, no case of leukoerythroblastosis in such an early phase has been reported in the in literature. As a result, premature delivery and leukoerythroblastosis were thought to have developed secondary to intrauterine parvovirus B19 infection. Leukoerythroblastosis is a rarely observed disease characterized by the presence of leukocytosis, erythroid and myeloid blast cells in peripheral blood. It is reported that it can be observed following hematologic malignancies especially juvenile myelomonocytic leukemia, acute infections, hemolytic anemia, osteopetrosis, myelofibrosis, neuroblastoma and taking certain medicines. To our knowledge, it has not been diagnosed in a premature newborn before. Here we the case of a newborn who was referred to our intensive care unit due to being born prematurely at the 29th week of gestation and diagnosed with leukoerythroblastosis.
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PMID:Premature labor and leukoerythroblastosis in a newborn with parvovirus B19 infection. 1626 29


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