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 47-year-old white male developed massive hepatosplenomegaly, a pleural effusion, leucocytosis, and a left parasternal mass following a relatively symptom-free persistent hypereosinophilia for about 5 years. Bone marrow aspiration and biopsy and peripheral blood differential showed eosinophilia and a shift to the left with immature cells. A high serum B12 vitamin level and low LAP activity were found. Biopsy of the soft tissue mass revealed a granulocytic sarcoma (chloroma) with a hyperdiploid karyotype (49,XY, + 10, + 15, + 19,3q-), whereas the bone marrow cells had a normal male karyotype. The patient responded temporarily to chemotherapy but eventually developed CNS leukemia and went on to terminate in a frank blastic phase. This case illustrates hypereosinophilia and a myeloproliferative syndrome characterized by a somewhat indolent chronic course evolving into "eosinophilic leukemia" and granulocytic sarcoma, CNS involvement by leukemic cells and, finally, blastic transformation. It is possible that this case represents a variant of Ph1-negative CML to which the term "chronic eosinophilic leukemia" could be justifiably applied.
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PMID:Chromosomes and causation of human cancer and leukemia. XXXIV. A case of "hypereosinophilic syndrome" with unusual cytogenetic findings in a chloroma, terminating in blastic transformation and CNS leukemia. 29 66

Chloromas are an unusual finding in patients with acute or chronic granulocytic leukemia. The present report describes a man with acute myelogenous leukemia (AML) whose course was complicated by cutis verticis gyrata (CVG), a mediastinal mass, neuropathies, and hepatosplenomegaly as a result of visceral involvement. Leukemic tumors and organ infiltration developed independent of his hematologic status and resulted in significant morbidity and, eventually, mortality from gastrointestinal hemorrhage. Nevertheless, at least temporary control over these complications was achieved when they were managed as leukemic "sanctuaries" and treated with local irradiation.
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PMID:Cutis verticis gyrata: unusual chloromatous disease in acute myelogenous leukemia. 693 78

A 59-year-old woman was diagnosed with essential thrombocythemia in 1988 and had been treated with hydroxyurea, mitobronitol, busulfan, and ranimustine, in that order. Hepatosplenomegaly, low-grade fever, and body weight loss manifested, and a few blasts were noted in the peripheral blood studied in March 2002. A biopsied specimen of the bone marrow showed myelofibrosis but not a leukemia in August 2004. An abnormal karyotype with der(1; 13) appeared for the first time. She was treated with low-dose prednisolone. In January 2005, she experienced left hip joint pain, and magnetic resonance scanning showed a tumoral lesion in the femoral head. Histological diagnosis of the biopsied mass revealed that it was a granulocytic sarcoma, and radiotherapy was performed. In April 2005, bone scintigraphy showed multiple lesions. She became febrile and red blood cell transfusion-dependent with hepatosplenomegaly and a small number of circulating blasts. Intravenous cytarabine (low dose) and etoposide relieved the fever and hepatosplenomegaly; however, she developed a pathologic fracture of the right humerus. An additional karyotypic abnormality (7q22 deletion) was noted. She subsequently died of infection. Granulocytic sarcoma is very rare in essential thrombocythemia, and this patient may be the first reported case of essential thrombocythemia that developed multiple lesions and a pathologic fracture without transformation to overt leukemia.
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PMID:Multiple granulocytic sarcomas in essential thrombocythemia. 1718 21

Granulocytic sarcoma occurs most commonly in acute myelogenous leukemia. The appearance of granulocytic sarcoma in chronic myelogenous leukemia signals accelerated phase/ blast transformation. This is a rare case of undiagnosed chronic myelogenous leukemia with granulocytic sarcoma causing cord compression, which went into tumour lysis syndrome requiring dialysis after starting of steroids and radiotherapy. A 43-year-old male presented in emergency department with acute onset of flaccid paralysis. On clinical examination, there was hepatosplenomegaly and lower motor neuron paralysis in the lower limbs. The peripheral smear was consistent with chronic myelogenous leukemia in chronic phase. The MRI spine revealed para-spinal and epidural masses causing cord compression and the biopsy from the paraspinal mass was consistent with granulocytic sarcoma.
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PMID:Granulocytic sarcoma with compressive myelopathy: a rare presentation of chronic myelogenous leukemia. 2517 19

Background. Myeloid sarcoma is an extramedullary neoplasm of immature myeloid cells. Our study reports a presentation of myeloid sarcoma which presented with severe leukemoid reaction as a secondary malignancy in a patient who was treated for acute lymphoblastic leukemia previously. The case emphasizes the difficulties in diagnosis of patients who do not have concomitant leukemia. Case Presentation. A 6-year-old girl who was treated for acute lymphoblastic leukemia previously presented with fatigue, paleness, and hepatosplenomegaly. Peripheral blood smear and bone marrow aspirate examination did not demonstrate any blasts in spite of severe leukemoid reaction with a white cell count 158000/mm(3). FDG/PET CT revealed slight uptake in cervical and supraclavicular lymph nodes. Excisional lymph node biopsy was performed from these lymph nodes and it showed myeloid sarcoma. Conclusion. Myeloid sarcoma can develop as a secondary malignancy in children who are treated for acute lymphoblastic leukemia. It can be associated with severe leukemoid reaction and diagnosis may be difficult if there is not concomitant leukemia. PET/CT is helpful in such cases.
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PMID:Myeloid sarcoma presenting with leukemoid reaction in a child treated for acute lymphoblastic leukemia. 2527 45

The incidence of hematologic malignancies and their extranodal manifestations is continuously increasing. Previously unsuspected hepatic involvement in hematologic malignancies such as Hodgkin disease and non-Hodgkin lymphoma, posttransplant lymphoproliferative disorder, myeloid sarcoma (chloroma), multiple myeloma, Castleman disease, and lymphohistiocytosis may be seen by radiologists. Although the imaging features of more common hepatic diseases such as hepatocellular carcinoma, metastases, and infection may overlap with those of hepatic hematologic malignancies, combining the imaging features with clinical manifestations and laboratory findings can facilitate correct diagnosis. Clinical features that suggest a hematologic neoplasm as the cause of liver lesions include a young patient (<40 years of age), no known history of cancer, abnormal bone marrow biopsy results, fever of unknown origin, and night sweats. Imaging features that suggest hematologic malignancy include hepatosplenomegaly or splenic lesions, vascular encasement by a tumor without occlusion or thrombosis, an infiltrating mass at the hepatic hilum with no biliary obstruction, and widespread adenopathy above and below the diaphragm. Familiarity with the imaging features of hepatic hematologic malignancies permits correct provisional diagnosis and may influence therapeutic management. For example, when biopsy is performed, core biopsy may be needed in addition to fine-needle aspiration so that the tissue architecture of the neoplasm can be discerned. The predominant treatment of hematologic malignancies is chemotherapy or radiation therapy rather than surgery. Online supplemental material is available for this article.
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PMID:Hematologic malignancies of the liver: spectrum of disease. 2656 43

Acute leukemias are the most common childhood cancer in all age groups. Acute myeloid leukemias (AML) constitute about 15-20% of acute leukemias. Fatigability, pallor, fever, and bleeding are the most common presenting symptoms of AML. Hepatosplenomegaly and lymphadenopathy are commonly encountered during physical examination. In rare instances eruptions due to skin involvement and localized tumor masses (myeloid sarcoma) may be found. Myeloid sarcoma is especially seen in AML-M2 subtype. By cytogenetic analysis, in AML-M2 subtype t(8;21) is often seen and it is more probable to find inversion 16 in AML-M4Eos subtype. Herein, we present a 15-year-old girl whose initial symptom was abdominal pain for three days and her pathological sign was a large abdominal mass which was verified by imaging studies and diagnosed as myeloid sarcoma by biopsy. On bone marrow examination, she had diagnosis of AML-M2 and by cytogenetic analysis inversion 16 was positive. She was treated with AML-BFM 2004 protocol and she is being followed up in remission on her ninth month of the maintenance therapy.
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PMID:A Case of Acute Myeloid Leukemia (FAB M2) with Inversion 16 Who Presented with Pelvic Myeloid Sarcoma. 2561 Jun 88

Myeloid sarcoma is a rare solid tumour composed of primitive precursors of granulocytic series of white blood cells involving extramedullary anatomic site. Here we report the case of a 10-month-old with testicular swelling, who was finally diagnosed with granulocytic sarcoma. This case demonstrates that Granulocytic sarcoma should be considered as a part of the differential diagnosis for testicular swelling in spite of having normal peripheral counts and absence of hepatosplenomegaly.
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PMID:Unusual cause for testicular swelling in a child. 2844 80

Myeloid sarcoma (MS) carries a poor prognosis, and information on epigenetic modifications in MS is currently limited. In the present study, 214 ten-eleven translocation-2 (TET2)-/- mice were successfully constructed. In addition, 436 patients with myelodysplastic syndrome (MDS) and 354 with acute myeloid leukemia (AML) patients were recruited. The incidence of MS in mice and patients with TET2 deficiency was examined, and the efficiency of hypomethylating agents (HMAs) was also be evaluated. A total of 93% of the TET2 -/- mice developed myeloid malignancies, 5.5% of which were accompanied by MS (n=11). The survival of these TET2 -/- mice ranged between 3 and 25 months. No significant difference was observed between the survival of MS and non-MS mice with TET2 loss (P>0.05). In addition, MS cells were transplantable, and their recipients exhibited myeloproliferative characteristics, such as increased white blood cell counts, monocytosis, low erythrocyte counts and hepatosplenomegaly. Their median survival duration was 94.8 days. In the clinical setting, 9.7% of MDS and 11.6% of AML patients with TET2 deficiency developed MS, which was higher compared with previous reports (1.5-9.1%). The median age of the MS patients was 44 years old. 5-Aza-2'-deoxycytidine (5-Aza-dC) reduced the incidence of MS in TET2 -/- mice, and decitabine was a suitable treatment strategy for MS patients. These data indicate that TET2 deficiency plays a key role in MS and its prognostic significance requires further investigation. HMAs may be a useful treatment for MS patients with TET2 mutations.
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PMID:Characteristics of myeloid sarcoma in mice and patients with TET2 deficiency. 3280 63