The American journal of pediatric hematology/oncology最新文献

Purpose: Maffucci's syndrome is a nonhereditary congenital disorder associated with multiple enchondromas, soft tissue hemangiomas, or lymphangiomas. It carries an associated high risk of the development of malignant neoplasms, particularly sarcomatous transformation of an enchondroma, as well as other malignant mesodermal and nonmesodermal neoplasms. Hematopoietic malignancies arising in Maffucci's syndrome are exceedingly rare. We report the case of a 14-year-old girl with Maffucci's syndrome who developed acute lymphoid leukemia.

Patients and methods: The patient presented at 18 months of age with enchondromatosis. Maffucci's syndrome was established at 10 years of age after the appearance of multiple hemangiomas.

Results: At 14 years of age the patient developed fatigue, frequent nosebleeds, easy bruising, and weight loss, with circulating blasts in the peripheral blood. Bone marrow examination showed replacement of marrow spaces with leukemic blasts. Immunohistochemical and flow cytometric findings were consistent with a diagnosis of acute lymphoblastic leukemia with myeloid antigen expression.

Conclusions: The occurrence of acute leukemia in a patient with Maffucci's syndrome may represent predisposition to yet another malignancy and reflect further expression of a generalized mesodermal dysplasia in these patients. It also emphasizes the need for aggressive surveillance in patients with Maffucci's syndrome.

Purpose: Yersinia enterocolitica sepsis is rarely encountered in patients without an underlying susceptibility and is most frequently reported in iron-overloaded patients. This is thought to be related to the unusual utilization of iron by this microorganism. We report a case of Y. enterocolitica bacteremia in a chronically transfused adolescent with sickle cell anemia. This type of serious infection in sickle cell disease is previously unreported. A description of the case and the relationship between Y. enterocolitica and iron is discussed. A review of the literature is presented.

Results: Y. enterocolitica can cause a severe septicemia, and increased virulence of this organism has been shown to correlate with increased iron burden and/or use of the chelator deferoxamine. It may also occur as a consequence of a contaminated blood transfusion.

Conclusions: We believe our case demonstrates that Y. enterocolitica should be considered a possible pathogen in febrile chronically transfused patients with sickle cell disease. Broad antibiotic coverage should be initiated and deferoxamine discontinued pending results of cultures.

Purpose: The primary infection with human herpesvirus-6 developed concurrently with diagnosis of acute lymphoblastic leukemia and initiation of intensive chemotherapy for the disease in a 4-month-old girl.

Results: Prolonged viremia persisted for 7 days in the presence of neutralizing antibodies, and clinical features such as prolonged febrile and diarrheal period, no appearance of skin rash, and marked bulging fontanelle for 7 days in the absence of the virus DNA in spinal fluid may suggest an atypical clinical course of exanthem subitum and an unusual viral replication in immunocompromised condition.

Purpose: A prospective study of coagulation in 15 children who received L-asparaginase, vincristine, or prednisone plus or minus an anthracycline as part of a treatment program for leukemia or leukemia-lymphoma syndrome was conducted.

Patients and methods: One patient developed a central nervous system thrombosis.

Results: The inhibitors of coagulation, including antithrombin-III, protein C, protein S, and plasminogen, were decreased in many individuals, but were not significantly different in the patient who had experienced the thrombotic event. Platelet aggregations to low molar ADP were performed in four patients, and in three patients showed a hyperaggregable pattern.

Conclusions: The patient with thrombosis developed a transient acquired type II pattern on multimeric analysis of the von Willebrand factor, which was not seen in the other individuals studied.

Purpose: Due to its important role in immunoregulation, we have investigated serum levels of tumor necrosis factor-alpha (TNF alpha), in children with newly diagnosed, untreated, malignant disease.

Patients and methods: These levels have been related to the presence of infection and to the serum content of three other cytokines, namely interleukin-1 beta, interleukin-2, and interferon-gamma. All cytokine analyses were performed using highly sensitive radioimmunoassays.

Results: Children with leukemia had higher mean levels of TNF alpha (63.6 +/- 12.3 pg/ml) than did children with solid tumors (21.5 +/- 4.2 pg/ml) and control patients (10.5 +/- 2.6 pg/ml). TNF alpha levels in patients did not correlate with the levels of the other cytokines or with the presence of infection.

Conclusions: Children with malignant disease often have elevated TNF alpha levels. This elevation is dependent on the malignant disease process itself, and could either reflect the host immunological response or tumor cell production of TNF alpha.

Giant hemangiomas occurring in the neonatal period often present a therapeutic challenge, especially when confounded by consumptive coagulopathy (Kasabach-Merritt syndrome). We treated three infants with tranexamic acid after therapy with corticosteroids was ineffective. One patient had a partial response. The remaining two developed progressive disease.

Purpose: A unique myelodysplastic syndrome referred to as transient abnormal myelopoiesis (TAM) has been reported to occur primarily in infants with Down's syndrome (DS) or other abnormalities of chromosome 21. This disorder raises basic questions regarding the pathogenesis of leukemia, yet its natural history is poorly documented and derives from small series and isolated case reports.

Patients and methods: To better characterize TAM, we accumulated data on 35 cases identified through a questionnaire mailed to pediatric oncologists in the United States. These cases, pooled with two that we recently encountered, and 58 comparable cases reported in the literature comprise a series of 95 cases of TAM in DS.

Results: The patients in this series were notable for the high morbidity and mortality of this reportedly benign condition. Eleven percent of the patients died during the initial event, and the overall mortality for the entire series was 27%. Twenty-eight of the 85 patients (33%) who survived the initial event developed a subsequent hematologic disorder, most often acute nonlymphocytic leukemia, at a median age of 16 months.

Conclusions: No initial clinical or hematologic features predicted the development of a subsequent hematologic disorder. However, those patients initially mosaic for the presence of trisomy 21 did not develop subsequent abnormalities. This series reviews questions regarding leukemogenesis in DS and underscores the importance of conducting future prospective studies of this unique hematologic disorder.

Purpose: Human B19 parvovirus infection may cause severe erythroid hypoplasia in patients with an underlying hemolytic anemia. We report a case of severe parvovirus-induced anemia with initial marrow erythroid hyperplasia in a child with no underlying hematologic disorder.

Conclusions: The patient's rapid hemoglobin recovery after treatment with i.v. immunoglobulin further supports this form of therapy for children with parvovirus-induced anemia.

Purpose: The purpose of this study was to determine the clinical outcome for pediatric patients with peripheral neuroepithelioma treated with combined modality therapy and followed long enough to account for late relapses.

Patients and methods: Fifteen patients, ages 3 3/12 to 19 10/12 years, with peripheral neuroepithelioma (median follow-up 91 months) were diagnosed at The Children's Hospital, Denver, Colorado over the period 1980-1989. All of these malignancies originated in the soft tissues. A critical review of these cases was performed with particular consideration given to the site and stage of the tumor and to the radiographic findings at presentation. Thirteen patients had bulk (> 5 cm in the greatest dimension) or metastatic disease. Four patients had primary tumors involving the chest wall. All patients received chemotherapy, which included at least doxorubicin, vincristine, and cyclophosphamide. Definitive surgical resections were performed on 13 of 15 patients.

Results: Five patients relapsed. Three were late relapses 24-44 months after diagnosis. Three of the five patients who relapsed had chest wall primaries. There were three deaths in this series due to peripheral neuroepithelioma and one due to sepsis. The overall survival was 68.5%, and the recurrence-free, survival 55.2%. Two patients with pulmonary relapses were treated with surgery and intensive chemotherapy and remain free of disease > 51 months following recurrence.

Conclusions: Combined treatment modalities appear to be important for optimal outcome. This series represents the first report of favorable outcome of peripheral neuroepithelioma using a series with follow-up that is long enough to account for late relapses.