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)

To determine the activity of fenretinide in patients with myelodysplastic syndromes, 15 patients were treated (300 mg/d starting dose, escalated to 400 mg/d) for a 12-week course. No responses were observed in 14 evaluable patients. Exacerbation of thrombocytopenia occurred in one patient with chronic myelomonocytic leukemia, who succumbed to an intracerebral hemorrhage after 3 weeks of treatment. Two patients with long-standing stable sideroblastic anemia experienced interval leukemic progression. In one patient, clinical features of chronic myelomonocytic leukemia appeared, characterized by a striking rise in peripheral monocyte count (0.49 x 10(9)/l to 10.8 x 10(9)/l) and hepatosplenomegaly, which resolved promptly after cessation of treatment. The second patient experienced evolution into acute myelomonocytic leukemia with cytogenetic progression. The drug was well tolerated with no patient having to discontinue treatment because of toxicity. We conclude that fenretinide lacks clinical efficacy in the treatment of myelodysplasia and in some patients may enhance leukemic progression.
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PMID:Phase II trial of fenretinide [N-(4-hydroxyphenyl) retinamide] in myelodysplasia: possible retinoid-induced disease acceleration. 252 91

A patient with a 3.5 year history of chronic myelomonocytic leukemia who transformed to malignant histiocytosis is reported. The terminal event was characterized by fever, hepatosplenomegaly, thrombocytopenia, and a leukemic blood picture. The pathogenesis of this terminal transformation and proposed future studies are discussed.
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PMID:Chronic myelomonocytic leukemia terminating as malignant histiocytosis. 333 48

A four-year-old child with recurrent infections and increasing hepatosplenomegaly over a three-year period was evaluated. Increased numbers of myeloid precursors packed the bone marrow and infiltrated the peripheral blood. A diagnosis of chronic myelogenous leukemia (CML) was considered but could not be confirmed by laboratory studies appropriate for the types of CML usually observed in childhood. Examination of the patient's peripheral blood smears revealed many atypical monocytoid cells with unipolar hairy projections. Scanning electron microscopy showed these to be leukemic monoblasts with characteristic broad-based ruffles on the cell surface. A population of myeloid precursors possessing narrow ridge-like profiles was also observed. Progressive infiltration of the spleen caused hypersplenism which necessitated splenectomy. Subsequently, massive liver and bone marrow involvement led to the patient's death. Terminally, the proliferating blast cells were demonstrated to be leukemic monoblasts by analysis of cytochemical staining patterns, surface immunoglobulins, serum lysozyme levels, and monocyte-mediated antibody-dependent cellular cytotoxicity studies. The findings in this case are most compatible with a diagnosis of chronic myelomonocytic leukemia (CMML), a condition not previously described in childhood. Several myeloproliferative disorders with prolonged survival have been reported in children, but special studies were not performed to determine which cell lines were abnormally proliferating. The similarities between these children and our patient with CMML suggest that monocyte studies may be useful in the diagnosis of these unusual disorders, provide insights into their pathogenesis, and aid in the selection of appropriate therapy.
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PMID:Chronic myelomonocytic leukemia in childhood. 694 Apr 41

A case of chronic myelomonocytic leukemia (CMML) associated with primary amyloidosis (AL) is presented. Hepatosplenomegaly, macroglossia, and xanthelasma were the major physical findings. Laboratory tests showed macrocytic anemia, thrombocytopenia, monocytosis and a bi-clonal gammopathy. Early monocytes and monoblasts were noted in the bone marrow aspiration biopsy. Cytogenetic evaluation showed a clonal deletion of chromosome 21 long arm (21q-). Amyloid was present in the liver, tongue and xanthelasma. In addition, the patient was noted to have osteosclerosis of the lower extremities. Treatment with prednisone and colchicine resulted in a subjective response. The unusual association of CMML, and primary amyloidosis is discussed.
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PMID:Chronic myelomonocytic leukemia associated with primary amyloidosis. 769 26

A 3-year-old male child was presented with worsening abdominal pain, abdominal distension, lethargy, pallor and hepatosplenomegaly. The patient had multiple outpatient visits in the past and was treated with oral antibiotics, oral anthelmintic agents, albeit with minimal benefit. The patient also had non-neutropenic pyrexia spikes and oral ulcers. The patient was an adopted child; hence details about his biological parents' previous history were unclear. Differential diagnosis of Chronic Myelomonocytic Leukemia (CMML), Juvenile Myelomonocytic Leukemia (JMML), Gaucher's disease, Thalassemia and discrete pancreatic pathology was considered. Hemoglobin electrophoresis was indicative of thalassemia. Also, molecular detection method by polymerase chain reaction confirms a concurrent infection with Plasmodium knowlesi malaria. The BCR-ABL fusion gene was found to be negative. Correlating with peripheral monocytosis, bone marrow aspiration and trephine biopsy with blasts only 3-4% and hepatosplenomegaly, a diagnosis of JMML was established. We present a rare phenomenon with an overlap of signs and symptoms between JMML, underlying thalassemia, and Plasmodium knowlesi, posing a diagnostic challenge to physicians.
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PMID:Concurrent juvenile myelomonocytic leukemia with thalassemia in a case with Plasmodium knowlesi infection from Sabah, Malaysian Borneo. 3157 24