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)

Report of five cases of juvenile myelomonocytic leukemia; authors describe an hemopathy of the young child with important splenomegaly, hepatomegaly and adenopathies; anemia with erytroblastemia; hyperleucocytosis with myelemia and monocytosis, rich and granulous bone marrow. Also remarkable is evolution, as it fatal outcome often occurs before a two year evolution, without remission looking like acute myeloblastic leukemia, a few patients have remission of most the symptoms, ending in an apparent recovery, which may be spontaneous.
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PMID:[Myelomonocytic leukemia in childhood (author's transl)]. 106 64

Splenectomy for massive splenomegaly in thrombocytopenic patients refractory to platelet transfusions carries increased surgical risks. Blocking of the splenic artery may reduce the size of the organ, prolong the survival of transfused platelets, and reduce the surgical complications. We describe four cases of extreme splenomegaly and thrombocytopenia where successful splenectomy was carried out after angiographic embolization of the splenic artery in children with juvenile chronic myelogenous leukemia. Significant improvement was observed in platelet counts and in the survival of platelets after transfusions in three of the patients. There was a concomitant decrease in transfusion requirements. Isoimmunization prevented prolonged platelet survival in the fourth case. We recommend earlier splenectomy in these patients to reduce transfusion requirements and delay the onset of poor platelet survival after transfusions.
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PMID:Splenectomy after angiographic embolization of the splenic artery in patients with massive splenomegaly and severe thrombocytopenia, in juvenile subacute myelomonocytic leukemia. 658 68

Annular, erythematous, circinate plaques were the first manifestation of juvenile chronic myelogenous leukemia (JCML) in an otherwise healthy 2.5-year-old boy who had had these lesions since 6 months of age. The lesions showed an atypical hematopoietic infiltrate on biopsy. Biopsy of a bone marrow specimen and peripheral blood smear were normal six months before leukemic transformation. At 3 years of age the boy developed splenomegaly, thrombocytopenia, and petechiae, and a bone marrow aspirate and cell marker studies were regarded as consistent with, if not diagnostic of, JCML. Four previous cases of cutaneous leukemic infiltrate associated with JCML have been published. Our patient had recurring urticarial-like plaques for two years before the initial bone marrow finding of JCML. Given the poor prognosis and progressively evolving course of JCML, it may be appropriate to consider therapy before bone marrow changes, based on the presence of the cutaneous eruption with the appropriate findings on skin biopsy and an elevated fetal hemoglobin.
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PMID:Cutaneous presentation of juvenile chronic myelogenous leukemia: a diagnostic and therapeutic dilemma. 874 88

A 3-year-old Filipino-American child with recurrent fever, splenomegaly, anemia, and thrombocytopenia, was found to have a hemoglobin F level of 76.9%. His reticulocyte count was elevated (4.3%), and erythroblasts were present in his peripheral blood. The child's erythrocytes were microcytic (MCV 66.9 fl) but his serum ferritin level was normal. His bone marrow at initial presentation demonstrated normal cellularity without an increase in blast cells. The disease progressed with worsening anemia, leukocytosis, and thrombocytopenia, with increased blasts in his marrow and the appearance of a mediastinal mass. His liver, spleen, and lymph nodes were found to be infiltrated with myeloblasts, supporting a diagnosis of juvenile myelomonocytic leukemia (JMML). Analysis of the child's Hb F showed a Ggamma/Agamma ratio of 2.2, which was within the characteristic range for JMML. A globin synthesis study using blood reticulocytes showed an alpha/non-alpha globin synthesis ratio of 2.24, typical of severe homozygous beta thalassemia. Southern blot analysis of blood-leukocyte DNA from the patient and his parents demonstrated no apparent abnormality in the beta-globin gene promoter or coding regions. The elevated level of Hb F in this child with JMML appeared to be part of an acquired Cooley's anemia-like hematologic phenotype.
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PMID:Juvenile myelomonocytic leukemia (JMML) with the hematologic phenotype of severe beta thalassemia. 959 Jan 52

Allogeneic hematopoietic cell transplantation (HCT) in children with myelodysplastic syndrome (MDS) remains a challenge due to the toxic conditioning regimens administered to minimize the risk of relapse in the HLA-matched or of graft rejection in the HLA-mismatched settings. In the absence of matched sibling donors, alternative donors such as unrelated and/or partially matched family sources remain risky, yet the only available, options. Herein we report the results of HCT from alternative donors in 14 children with different subtypes of MDS (juvenile myelomonocytic leukemia [JMML] n = 9; myelodysplastic syndrome [MDS] refractory anemia n = 3; MDS refractory anemia with excess of blasts in transformation n = 2) transplanted at our institution. The median time from diagnosis to HCT was 9 months (range 4 to 90 months). The variety of HCT types included: unrelated peripheral blood progenitor cell transplantation (PBPCT) (n = 2), partially matched family donor T-cell-repleted BMT/PBPCT (n = 6), and haploidentical T-cell-depleted PBPCT (n = 6). Five of 14 patients remain alive at 7 to 37 months posttransplant (including two patients after partially matched family donor BMT, two patients after haploidentical T-cell-depleted-PBPCT, and one after unrelated-PBPCT, respectively). The major complications were: primary graft failure in the haploidentical T-cell-depleted-setting or graft-versus-host disease (GvHD) in T-cell-repleted partially matched family or unrelated settings, respectively. Despite the high transplant-related mortality rate in this series, allogeneic HCT from alternative donors remains an interesting solution for children with MDS who lack matched sibling donors. Due to improved immune reconstitution, despite an increased risk of GvHD, T-cell-repleted transplants from single HLA-mismatched family donors remain a valuable option for children without matched donors. Splenectomy prior to HCT may positively affect the posttransplant course in patients with overt splenomegaly for example those afflicted with JMML.
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PMID:Allogeneic hematopoietic cell transplantation from alternative donors in children with myelodysplastic syndrome: is that an alternative? 1525 88

The WHO classification published in 2001 defined a new category of hematological disease, myelodysplastic/myeloproliferative diseases (MDS/MPD), that have both myelodysplasia and myeloproliferation at the time of initial presentation. This category consists of four subclasses, chronic myelomonocytic leukemia (CMML), atypical CML(aCML), juvenile chronic myelogenous leukemia and MDS/MPD-unclassifiable (MDS/MPD-u). In order to clarify the clinical features of these diseases, we analyzed clinical data of tentatively diagnosed MDS/MPD cases in the past ten years accumulated from affiliated hospitals. By reviewing the data of each case according to the criteria, we diagnosed 31 cases of MDS/MPD, including 22 cases of CMML, 5 cases of aCML and 4 cases of MDS/MPD-u. Male predominance and high age were common among these three subclasses. The prognosis of CMML was poor compared to other subclasses because of the high incidence of blast crisis. It is noteworthy that blast crisis in CMML exclusively occurred within one year after diagnosis. Young age, a high percentage of blasts in the peripheral blood, splenomegaly, lymphadenopathy and clonal cytogenetic abnormality were associated with blast crisis. It is suggested that there are two subgroups in CMML which differ in disease progression. Thus, these indicators may be useful in deciding the therapeutic strategy including hematopoietic cell transplantation for the high risk subgroup. There were four MDS/MPD cases with a history of preceding hematological diseases, such as aplastic anemia, MDS or malignant lymphoma. Among these, three cases with a long-term history of treatment with metenolone acetate developed CMML. It is suggested that the long-term effect of androgen plays a role in the pathophysiology of CMML.
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PMID:[Clinical features of a new category, myelodysplastic/myeloproliferative diseases, defined by WHO classification]. 1663 72

Splenectomy has been performed as a palliative treatment both in adults and children with myelodysplastic syndrome (MDS). However, there is no report describing the course after splenectomy in children with MDS. The aim of this study was to evaluate the impact of splenectomy on the outcome of six children with juvenile myelomonocytic leukemia (JMML) who had no HLA identical donor and who became unresponsive to chemotherapy. Persistent thrombocytopenia, increased erythrocyte transfusion requirement and massive splenomegaly were the indications for splenectomy. Hemoglobin values and platelet counts improved following splenectomy in five out of the six patients. Erythrocyte transfusion requirements decreased and none of the patients who responded received erythrocyte transfusion for at least six months. More importantly, the quality of life improved markedly. No mortality related to splenectomy was observed. In conclusion, splenectomy may be considered as a safe supportive treatment approach for some children with JMML.
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PMID:The role of splenectomy in children with juvenile myelomonocytic leukemia. 1790 14

Juvenile myelomonocytic leukemia (JMML) is a rare, aggressive, clonal hematopoietic disorder of childhood with features of both myelodysplasia (thrombocytopenia, anemia) and myeloproliferation (leukocytosis, monocytosis). In most cases there is marrow hypercellularity, splenomegaly, and extramedullary involvement. In 1997 an international consensus on terminology was reached and guidelines/criteria for diagnosis were proposed. A recent World Health Organization classification described the current diagnostic criteria of JMML. Although the diagnosis of JMML has been facilitated, it can be challenging, especially in the early stages or when it 1st presents as an extramedullary tumor. We report a series of 7 cases diagnosed over a period of 10 years (from January 1, 1996, to December 31, 2005). Two cases had interesting associated findings that would potentially lead to delay in diagnosis or misdiagnosis. Two other cases had extramedullary involvement with symptoms referable to the organs of involvement at presentation. Clinical and pathologic findings are summarized with a review of relevant literature.
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PMID:Juvenile myelomonocytic leukemia: report of seven cases and review of literature. 1872 Oct 5

Children with Noonan syndrome (NS) are at increased risk of developing juvenile myelomonocytic leukemia (JMML) or a myeloproliferative disorder associated with NS (MPD/NS) resembling JMML in the first weeks of life; whereas JMML is an aggressive disorder requiring hematopoietic stem cell transplantation, MPD/NS may resolve without treatment and cases with spontaneous remission have also been reported. Two cases of NS with hematologic disorders are described. Diagnosis of the syndrome was confirmed by the identification of earlier reported germline missense mutations in the PTPN11 gene. Splenomegaly in 1 patient and leukocytosis, monocytosis and "in vitro" culture assays consistent with JMML in both were the most salient hematologic features. After a 24-month follow-up, these 2 infants continue to improve and JMML has been ruled out. Splenomegaly persists in 1 patient and monocytosis in both, but without signs of malignancy, thereby suggesting abnormal hematopoiesis or MPD/NS, as described in NS.
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PMID:Myeloproliferative disorder in Noonan syndrome. 2082 14

Autoimmune lymphoproliferative syndrome (ALPS) is classically defined as a disease with defective FAS-mediated apoptosis (type I-III). Germline NRAS mutation was recently identified in type IV ALPS. We report 2 cases with ALPS-like disease with somatic KRAS mutation. Both cases were characterized by prominent autoimmune cytopenia and lymphoadenopathy/splenomegaly. These patients did not satisfy the diagnostic criteria for ALPS or juvenile myelomonocytic leukemia and are probably defined as a new disease entity of RAS-associated ALPS-like disease (RALD).
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PMID:Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. 2139 97


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