A paravertebral neoplasm in a child with Down syndrome.
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Child↗
Biomedical subjects
H Rubie
Publications and source records attributed to H Rubie.
[Testicular feminization, germinal tumor, NK lymphoma: what is the relationship?].
CASE REPORT: The authors report the case of a ten-year-old girl, who had been treated for a malignant germinal tumour five years before, presenting with a leukaemia-like syndrome associating bone pain, liver and spleen nodules and bone marrow involvement. The cyto-pathological analysis showed undifferentiated cells and CD56 and protein S100 were found as the only positive markers. The child received several subsequent lines of chemotherapy and ultimately died of the disease. COMMENTS: Particular cytogenetic abnormalities were observed (iso1q10, iso6p10) and were in favor of an unusual NK cell lymphoma. CONCLUSION: This analysis revealed a XY genotype (testicular feminization syndrome).
Androgen-Insensitivity Syndrome↗
[New prognostic factors of neuroblastoma].
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Child↗
[Opsoclonus-myoclonus syndrome associated with non-metastatic neuroblastoma. Long-term survival. Study of the French Society of Pediatric Oncologists].
UNLABELLED: Opsoclonus-myoclonus is a rare syndrome characterized by multidirectional chaotic eye movements, myoclonus and ataxia. In children, it could be a paraneoplastic syndrome in association with neuroblastoma, usually with a high survival rate, but having a high frequency of neurologic and psychologic sequelae. OBJECTIVES: The aim of this study was to describe oncologic outcome (prospectively) and neurologic outcome (retrospectively) in children with non-metastatic neuroblastoma, and to determine its best treatment. PATIENTS AND METHODS: Data were collected on 21 children diagnosed with localized neuroblastoma and opsoclonus-myoclonus between 1990-1999 from the French Society of Pediatric Oncology institutions. RESULTS: Median age at diagnosis was 18 months. Location of the tumor was abdominal in 14 cases, thoracic in three cases, pelvic in three cases, and cervical in the last case. There was a majority of small tumors with a maximal diameter < 5 cm in 13 cases. Only four tumors were initially considered as unresectable tumors and received first-line chemotherapy. Complete macroscopic resection was performed in 20 cases (four after primary chemotherapy). Nine children received chemotherapy. Twenty children remained in first complete remission, and one relapsed and died (the unique NMYC amplified case). Treatment for opsoclonus-myoclonus varied widely. Only one child received no medical treatment for opsoclonus-myoclonus, because of complete resolution of neurologic symptoms after exclusive surgery. The following agents were used: corticosteroids in 18 cases, intravenously immune globulin in five cases, and antiepileptic drugs in seven cases. Ten patients experienced relapses of opsoclonus-myoclonus symptoms, mainly related to the decrease of steroid therapy (5/10). Ten of 16 assessable children had persistent neurologic deficits including speech delay or cognitive deficits (8/16), ataxia (6/16), motor delay (2/16), and behavioral problems (2/16). There is no correlation between neurologic outcome, and either age at diagnosis or duration of neurologic symptoms, or type of treatment of the tumor, particularly chemotherapy. CONCLUSION: Persistent neurologic deficits are characteristic for children with neuroblastoma and opsoclonus-myoclonus. Neurologic outcome seems unrelated to the treatment of neuroblastoma, which should exclusively be conducted according to oncological criteria. The treatment of opsoclonus-myoclonus should be standardized, mainly based on high-dose hydrocortisone, with a very low decreasing dosage, associated to intravenously immune globulin in severe cases. A biological immunologic work-up of the disease and cautious neurologic and psychologic standardized follow-up should be performed.
Adolescent↗
[Palliative care in pediatric oncology].
Improving the management of dying children has always been a common desire among staff who take care of children with incurable life-threatening diseases. Pediatric oncologists are beginning to structure their practice based upon the approach to palliative care given to adults. In the first part of this report, the authors focus on technical care: comfort control and symptoms. The second part is devoted to pain management, a major aspect of pediatric palliative care. In the third part, psychosocial issues are developed, taking into account the point of view of children, siblings, parents and staff.
Adolescent↗
Adverse outcome of infants with metastatic neuroblastoma, MYCN amplification and/or bone lesions: results of the French society of pediatric oncology.
To assess the relevance of MYCN amplification and bone lesions in stage 4 neuroblastoma (NB) in infants aged <1 year, 51 infants with stage 4 NB were enrolled. Three groups of patients were defined according to the type of metastases and the resectability of the primary tumour. Group I comprised 21 infants with radiologically detectable bone lesions, Group II 22 patients with an unresectable primary tumour and Group III eight patients with only metaiodobenzylguanidine (MIBG) skeletal uptake. MYCN oncogene content was assayed in 47/51 tumours and found to be amplified in 17 (37%). The 5-year event-free survival (EFS) rate of these 51 infants was 64.1% (+/- 7.1%). In a univariate analysis, bone lesions, MYCN amplification, urinary vanillylmandelic/homovanillic acid ratio and serum ferritin levels adversely influenced outcome. In the multivariate analysis, radiologically detectable bone lesions were the most powerful unfavourable prognostic indicator: the EFS rate was 27.2% for these infants compared to 90% for infants without bone lesions (P<0.0001). Our data emphasize the poor prognosis of infants affected by stage 4 NB with bone lesions, especially when associated with MYCN amplification. Given the poor results in this group whatever the treatment, new therapeutic approaches need to be investigated in the future.
Antineoplastic Combined Chemotherapy Protocols↗
Respiratory function in children undergoing bone marrow transplantation.
We conducted a prospective study of respiratory function in children undergoing bone marrow transplantation (BMT) for onco-hematological disorders. Each child was evaluated before and 100 days after BMT. The investigations included clinical examination, chest X-ray, and pulmonary function tests (PFT) to determine: slow vital capacity (VC), functional residual capacity (FRC), total lung capacity (TLC), forced expiratory volume in 1 s (FEV1), carbon monoxide diffusing capacity (DLCO), ratio of residual volume (RV) to TLC, and FEV1/VC. The values obtained before and after BMT were compared to predicted values, and the post-BMT values were compared to the pre-BMT values (Student's t-test). From 1986 to 1995, 77 children underwent BMT, of whom 39 were available for testing. The pre-BMT VC (P = 0.0234) and DLCO (P < 0.0001) were lower and FRC higher (P < 0.0001) than predicted values. After BMT, the VC (P = 0.004), TLC (P = 0.044), and FEV1 (P = 0.012) were lower, and the RV/TLC ratio was higher (P = 0.043), compared with pre-BMT data. The observed respiratory abnormalities were not clinically relevant. The only identifiable risk factor for a decrease in lung function was age at BMT. This study shows that some lung dysfunction may be present before BMT and be further altered by BMT. This stresses the need for longitudinal respiratory monitoring and follow up to detect such dysfunctions and to insure an optimal treatment program for these children.
Age Factors↗
[Good examples: nephroblastomas, localized neuroblastomas].
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Child↗
Prognostic factors in children with localized malignant nonseminomatous germ cell tumors.
PURPOSE: Prognostic factors were studied in children older than 1 year who were treated with chemotherapy for extracranial localized malignant non seminomatous germ cell tumors. PATIENTS AND METHODS: Data from two consecutive protocols were pooled. The TGM 85 (1985-1989) protocol consisted of alternating courses of cyclophosphamide, dactinomycin and vinblastine, bleomycin, and cisplatin at a dose of 100 mg/m(2) per course. The TGM 90 (1990-1994) protocol was initiated with carboplatin 400 mg/m(2) substituted for cisplatin as the only modification to the previous protocol. RESULTS: We examined alpha-fetoprotein (AFP) levels, disease stage, and primary site and identified three prognostic groups. Patients with a poor prognosis had either an AFP level >/= 10,000 ng/mL or stage III disease and a sacrococcygeal or mediastinal primary site; such patients represented 46% of the patient population and experienced a 43% 3-year failure-free survival rate and a 77% overall survival rate. Patients with a good prognosis had an AFP level less than 10,000 ng/mL, stage I or II disease, and a testicular, ovarian, perineal, or retroperitoneal primary site; such patients represented 22% of the patient population and experienced no treatment failures. The other patients were classified in the intermediate prognosis group and represented 37% of the patient population, with an 81% 3-year failure-free survival rate and a 92% overall survival rate. CONCLUSION: Initial AFP level, disease stage, and primary site are the most important prognostic factors in this analysis. Prognostic models for pediatric germ cell tumors should allow the stratification of patients for a risk-adapted approach to treatment.
Adolescent↗
Diagnosis of acute basophilic leukemia.
De novo acute basophilic leukemia (ABL) is a rare form of acute leukemia. Most frequently, the blast cells are morphologically undifferentiated, and the recognition of the presence of coarse basophilic granules may be the first step in diagnosis of this rare disorder. These granules are metachromatic and MPO negative. Immunophenotyping shows myeloid markers and some more specifically associated antigens such as CD9 or CD25 which are strongly expressed. Lymphoid, erythroid or megakaryocytic markers are not significantly expressed. In the absence of basophilic granules, some cases are classified as AML M0 if they express myeloid markers, or undifferentiated leukemia if no markers are present. If specific immature basophilic or theta granules are present, only an electron microscopic study will enable the diagnosis of a basophilic lineage assignment. Some cases may be misdiagnosed if all these steps are not followed. After all these investigations, two types of ABL may be defined: 1-A pure ABL, monophenotypic with basophilic lineage involvement alone, which should be classified as AML M8 . Genetic studies in these cases are very important for understanding the leukemic process and in a few cases, we can suspect c-MYB oncogene involvement but further investigations are still necessary. 2- More frequently, acute leukemia can be a mixture of blasts from different lineages with an important but variable participation of mature or immature basophilic cells. These cases must be classified as AML/Baso or multiphenotypic acute leukemias and often present Phl -chromosomal abnormality.
Biomarkers↗
A lack of neuroblastoma in Down syndrome: a study from 11 European countries.
An epidemiological investigation in 11 European countries comprising a total childhood population of 54.1 million children and using 8 separate data sources was conducted to evaluate the occurrence of neuroblastoma in Down syndrome (DS). No cases of DS were detected among 6724 infants and children with neuroblastoma, although more than five were expected. This highly significant result (P = 0.0045 according to the Poisson test) is consistent with data in the literature, which contains only two poorly detailed cases in epidemiological studies and one ganglioneuroma in a DS mosaic patient. Like other tumors, such as leukemias, testicular germ cell tumors and lymphomas are in excess in DS patients; the lack of neuroblastomas does not reflect a general decreased incidence of cancer but rather a specific underrepresentation of this precise tumor. S-100 b protein, the gene for which maps to the long arm of chromosome 21, (a) is overproduced in DS patients, (b) produces growth inhibition and differentiation of neural cells in vitro, (c) is abundant in good-prognosis neuroblastomas, and (d) has been shown to induce growth inhibition and differentiation and cell death in several human and murine neuroblastoma cell lines and could be responsible for this variation. Additional epidemiological and experimental studies are warranted to confirm our interpretation of these data.
Adolescent↗
A limited-sampling method for evaluation of the area under the curve of ultrafilterable carboplatin in children.
Carboplatin is a widely used cytotoxic agent in numerous solid tumors of children. Since there is a large degree of interpatient variability in the area under the curve of free carboplatin for a given dose of the drug, the current tendency is to adjust the carboplatin dose so as to reach a target area under the curve rather than to determine a carboplatin dose on the basis of the body surface area. A limited-sampling method was developed for estimation of the ultrafilterable carboplatin area under the curve and for adjustment of the carboplatin dose on subsequent treatments. Population parameters were obtained from 16 children (reference group). We used the maximum a posteriori (MAP) Bayesian approach on 15 children with complete carboplatin pharmacokinetic data (test group). Two blood samples were sufficient to obtain reliable prediction of the area under the curve. The best sampling times were: (a) 30 min after the end of the infusion and (b) 5 h after the end of the infusion. On the basis of these data it is possible to prescribe prospectively a target area under the curve for free carboplatin given in a fractionated daily infusion and to adapt the carboplatin dose directly to ultrafilterable carboplatin measurements.
Adolescent↗
[Autoimmune hemolytic anemia associated with a mature ovarian teratoma].
UNLABELLED: The association of autoimmune hemolytic anemia and mature teratoma of the ovary is rare, particularly in childhood, but must be known and looked for since the treatment of teratoma allows to cure anemia as well. CASE REPORT: A 9 year-old girl was admitted for hemolytic anemia. The etiologic work-up revealed an autoimmune mechanism (IgG autoantibodies with complement), as well as an ovarian tumor after ultrasound sonography of the abdomen and pelvis. Surgical excision of the tumor was complete and uncomplicated. Pathological examination concluded to a mature teratoma. Anemia, as well as the signs of autoimmunity, disappeared a few weeks later and the child is doing well with several months of follow-up. CONCLUSION: This second reported pediatric case shows that an ovarian teratoma should be searched for with ultrasound sonography in any girl presenting with autoimmune hemolytic anemia, since surgical excision is sufficient to cure both anemia and the tumor.
Anemia, Hemolytic, Autoimmune↗
[Acute orbital myositis and idiopathic inflammatory pseudotumor in children: three cases].
UNLABELLED: Orbital pseudo-tumors account for approximately 8% of the orbital tumors. They are scarcely described in children and raise diagnostic dilemas, especially when they present as an isolated extra-ocular muscle swelling called idiopathic orbital myositis (IOM). CASE REPORTS: A diagnosis of inflammatory orbital pseudotumors (IOPT) was made in three children aged 7, 13 and 14 years from clinical and CT scan and/or MRI findings associated with histological data in two of them. Two of these IOPT presented as IOM. Analysis was made in a effort to eliminate intra-orbital tumors, especially rhabdomyosarcoma. CONCLUSION: The abrupt onset of the orbital signs, often related in the literature, was not a specific diagnostic criterion regarding to embryonic rhabdomyosarcoma. The inconstant presence of inflammatory signs and the absence of local osseous defect could be more discriminating. Although diagnostic procedure, including histological documentation, was difficult, even dangerous, surgical biopsy should be recommended. Eventually, considering the mandatory multidisciplinary care, steroid therapy response should be evaluated as a diagnostic test.
Adolescent↗
An open-label, multicentre, randomised phase 2 study of recombinant human granulocyte colony-stimulating factor (filgrastim) as an adjunct to combination chemotherapy in paediatric patients with metastatic neuroblastoma.
Administration of combination chemotherapy to children with metastatic neuroblastoma induces profound myelosuppression resulting in chemotherapy treatment delays and febrile neutropenic episodes. The objective of this randomised multicentre study was to assess the incidence, duration and severity of neutropenia when filgrastim is added to induction chemotherapy administered to patients with metastatic neuroblastoma. In this study, 59 patients with metastatic neuroblastoma were randomised to receive chemotherapy (control group, n = 28) or chemotherapy plus filgrastim (filgrastim group, n = 31). Chemotherapy consisted of four cycles of cyclophosphamide, vincristine and doxorubicin (CADO) alternating at 21-day intervals with cisplatin and etoposide (CDDP-VP16). Filgrastim was administered subcutaneously at a dose of 5 micrograms/kg/day from day 7 for up to 14 days. The incidence of neutropenia (absolute neutrophil count [ANC] < 0.5 x 10(9)/l) in the filgrastim group was not reduced after the first CADO course. However, significant reductions were observed after courses 2, 3 and 4. The duration of neutropenia and of intravenous antibiotic use were significantly reduced in the filgrastim group over the whole study period (9 days versus 26 days, P < 0.001; 12 days versus 20 days, P = 0.04, respectively). However, the duration of hospitalisation and the incidence of febrile neutropenia were not significantly reduced. Compliance to treatment was good and the ability to administer chemotherapy without treatment delays was significantly better in the filgrastim group (P < 0.05). Event-free survival was greater in the filgrastim than in the control group (2.4 years versus 1.3 years; P = 0.072). Filgrastim is a beneficial adjunct to combination induction chemotherapy used in the treatment of metastatic neuroblastoma.
Antineoplastic Combined Chemotherapy Protocols↗
Unresectable localized neuroblastoma: improved survival after primary chemotherapy including carboplatin-etoposide. Neuroblastoma Study Group of the Société Française d'Oncologie Pédiatrique (SFOP).
Neuroblastomas (NBs) were assessed according to INSS recommendations including MIBG scan and extensive bone marrow staging to eliminate metastatic spread. Patients with unresectable tumour received primary chemotherapy including two courses of carboplatin-etoposide (CE) and two of vincristine-cyclophosphamide-doxorubicin (CAdO). Post-operative treatment was to be given only in children over 1 year of age at diagnosis who had residual disease or lymph node (LN) involvement. Between 1990 and 1994, 130 consecutive children were registered. In comparison with resectable primaries, these tumours were more commonly abdominal, larger and associated with N-myc amplification (NMA). Complete, very good and partial response (CR, VGPR, PR) to CE were, respectively, 1%, 7% and 44%, overall response rate (RR) to two courses of CE and two courses of CAdO was 71%, and the tumour could be removed in all but four of the children. The toxicity was manageable. The 5-year overall survival (OS) and event-free survival (EFS) were, respectively, 88% and 78% with a median follow-up of 38 months. In multivariate analysis, only NMA and LN involvement adversely influenced the outcome, particularly NMA. Children with unresectable NBs and no NMA fared as well as children with resectable ones as OS were, respectively, 95% and 99% and EFS 89% and 91%. Our data show encouraging results in localized but unresectable NBs as 90% of children may be considered as definitely cured, especially those without NMA.
Adolescent↗
Total body irradiation-high-dose cytosine arabinoside and melphalan followed by allogeneic bone marrow transplantation from HLA-identical siblings in the treatment of children with acute lymphoblastic leukaemia after relapse while receiving chemotherapy: a Société Française de Greffe de Moelle study.
We investigated the use of a new conditioning regimen followed by allogeneic bone marrow transplantation (BMT) for treating children with acute lymphoblastic leukaemia (ALL) after relapse within 6 months of the completion of therapy. One hundred and sixteen children with acute lymphoblastic leukaemia in second or subsequent complete remission (CR) underwent allogeneic bone marrow transplantation from HLA-identical siblings after a preparative regimen comprising total body irradiation (TBI), high-dose cytosine arabinoside and melphalan (TAM regimen). The Kaplan-Meier product-limit estimate (mean +/- SE) of disease-free survival (DFS) at 7 years was 59.5 +/- 9% (95% confidence interval). The estimated chance of relapse was 22.5 +/- 15% with a median follow-up of 88.5 months (range 51-132). 26 patients (22.4%) died with no evidence of recurrent leukaemia, mainly from interstitial pneumonitis, veno-occlusive disease or acute graft-versus-host disease (GVHD). Three factors significantly affected DFS: acute GVHD. site of relapse and, for children in second remission after a marrow relapse, the disease status at the time of transplantation. The DFS were 59.02 +/- 12.6%, 37.5 +/- 19.8% and 774 +/- 15% among patients in CR2 after a marrow relapse, in CR3 or in untreated partial marrow relapse, and in CR2 after an isolated CNS relapse, respectively. The lowest DFS was seen in children with acute GVHD grades 3-4. Two significant factors were associated with relapse: the marrow status at the time of transplantation and chronic GVHD. The relapse rate was lower among children in CR2 or with chronic GVHD. We conclude that transplantation after the TAM regimen is an effective therapy for this population with acceptable toxicity, particularly for children in second remission after a very early marrow relapse, or those with early isolated CNS involvement.
Adolescent↗
Peripheral blood stem cell and bone marrow transplantation for solid tumors and lymphomas: hematologic recovery and costs. A randomized, controlled trial.
BACKGROUND: Previous studies have suggested that peripheral blood stem cell (PBSC) transplantation has an advantage over autologous bone marrow transplantation. OBJECTIVE: To compare the hematologic recovery and costs associated with PBSC transplantation with those associated with autologous bone marrow transplantation in patients receiving high-dose chemotherapy for solid tumors or lymphomas. DESIGN: Multicenter, randomized, controlled clinical trial. SETTING: French Federation of Cancer Centers, located in cancer facilities or public hospitals with transplantation units. PATIENTS: Children and adults with solid tumors or lymphomas who were candidates for high-dose chemotherapy. INTERVENTIONS: Bone marrow or filgrastim-mobilized PBSCs. MEASUREMENT: The major and point was the duration of thrombocytopenia (platelet count < 50 x 10(9)/L). An economic evaluation of both types of transplantation was done prospectively to measure costs and cost-effectiveness. RESULTS: 129 patients entered the trial; 64 had PBSC transplantation, and 65 had bone marrow transplantation. The median duration of thrombocytopenia was 16 days in the PBSC group and 35 days in the bone marrow group (P < 0.001). All of the other clinical end points studied (time to last platelet transfusion, duration of granulocytopenia, number of transfusion episodes, and duration of hospitalization) favored PBSC transplantation. A cost analysis showed that total cost was decreased by 17% in adults and 29% in children with PBSC transplantation; thus, PBSC transplantation was clearly more cost-effective than bone marrow transplantation for both platelet and granulocyte recovery. CONCLUSION: Transplantation of PBSCs is associated with more rapid hematologic recovery than is bone marrow transplantation after high-dose chemotherapy for solid tumors or lymphomas. Furthermore, global costs are lower and cost-effectiveness ratios are better with PBSC transplantation.
Adolescent↗