Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated the long-term pulmonary sequelae of 38 children surviving 3 to 11.5 years (median 7 years) after high-dose chemotherapy (HDC) and autologous bone marrow transplantation (ABMT) without TBI. This cross-sectional study included patients with neuroblastoma (21), non-Hodgkin's lymphoma (7), Ewing's sarcoma (5), rhabdomyosarcoma (3), medulloblastoma (1) and ALL (1). They were asked and examined for clinical signs and underwent a physical examination with chest X-ray; 33/38 had pulmonary function tests (PFT) performed. No obstructive disease was found. Fifteen out of 32 evaluable PFT (47%) were abnormal with a pulmonary restrictive syndrome in 10, and borderline values in five patients. Four of these 15 patients were symptomatic with exertional dyspnea and two of four had abnormal chest X-rays. The etiology was mainly multifactorial, associating HDC with thoracic radiotherapy +/- scoliosis/kyphosis +/- previous thoracotomy +/- post-ABMT interstitial pneumonitis. Only 3/10 patients with a restrictive syndrome had HDC containing BCNU or busulfan as the only risk factor for lung disease. We conclude that the prevalence of late pulmonary sequelae after ABMT without TBI is moderate and rarely due to HDC alone, since most abnormal PFT can be explained by heavy pretreatment prior to ABMT. As symptoms are scarce even in advanced disease, repeated testing and very long-term follow-up are needed.
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PMID:Long-term pulmonary sequelae after autologous bone marrow transplantation in children without total body irradiation. 875 Feb 68

We describe 11 cases (8 females, 3 males) of papillary thyroid carcinoma in children treated at St. Jude Children's Research Hospital over a 33-year period, and review the literature. Ages ranged from 7-25 years (median, 16 years). Six patients had primary papillary thyroid carcinoma. Five patients had secondary papillary thyroid carcinoma after treatment of Hodgkin's disease (n = 2), acute lymphoblastic leukemia (n = 2), and neuroblastoma (n = 1) with chemotherapy and cervical radiation. The typical presentation was either cervical lymphadenopathy or a thyroid mass of short duration. Treatment consisted of thyroidectomy, cervical lymph node dissection, and postoperative thyroid hormone replacement (n = 1), parathyroid reimplantation (n = 1), 131I ablation (n = 4), external-beam irradiation (n = 1), and chemotherapy with doxorubicin (n = 1) or carboplatin and topotecan (n = 1). Nine patients are alive without evidence of disease 3.0-22.4 years from diagnosis. One patient has persistent but stable disease 17.3 years after diagnosis. One patient relapsed with metastatic lung disease 0.3 years after the initial diagnosis. He continues to do well after a brief but unsustained complete radiographic remission of disease to combination chemotherapy with carboplatin and topotecan. Our review supports excellent long-term outcome for primary or secondary papillary thyroid carcinoma in pediatric patients although complications may require close follow-up in a multidisciplinary setting.
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PMID:Papillary thyroid carcinoma: demographics, treatment, and outcome in eleven pediatric patients treated at a single institution. 914 89

Chronic and persistent lung infections cause the majority of morbidity and mortality in patients with cystic fibrosis (CF). Galactosyl ceramide has been previously shown to be involved in Pseudomonas internalization. Therefore, we assessed ceramide levels in the plasma of patients with CF and compared them to healthy volunteers using high-performance liquid chromatography followed by mass spectrometry. Our results demonstrate that patients with CF display significantly lower levels of several ceramide sphingolipid species, specifically C14:0, C20:1, C22:0, C22:1, and C24:0 ceramides, and dihydroxy ceramide (DHC16:0). We report that Cftr-knockout mice display diminished ceramide levels in CF-related organs (lung, pancreas, ileum, and plasma) compared with their littermate controls. Since it has been previously reported that in vitro treatment with fenretinide induced ceramide in neuroblastoma cell lines, we decided to test this drug in vivo using our Cftr-knockout mice in an attempt to correct this newly identified defect in ceramide levels. We demonstrate that treatment with fenretinide is able to increase ceramide concentrations in CF-related organs. We further assessed the biological effect of fenretinide on the ability of Cftr-knockout mice to combat lung infection with P. aeruginosa. Our data show dramatic improvement in the ability of Cftr-knockout mice to control P. aeruginosa infection. Overall, these findings not only document a novel deficiency in several ceramide species in patients with CF, but also demonstrate a pharmacologic means to correct this defect in Cftr-knockout mice. Our data provide a strong rationale for clinical intervention that may benefit patients with CF suffering from CF lung disease.
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PMID:Fenretinide corrects newly found ceramide deficiency in cystic fibrosis. 1765 82

From January 2004 to December 2008, 50 consecutive patients with high-risk neuroblastoma were assigned to receive tandem HDCT (high-dose chemotherapy)/auto-SCT after nine cycles of induction chemotherapy. CEC (carboplatin + etoposide + cyclophosphamide) regimen and TM (thiotepa + melphalan)-TBI regimen (or TM regimen for stage 3 patients) were the first and second HDCT regimens. Local radiotherapy, differentiation therapy with 13-cis-retinoid acid and immunotherapy with interleukin-2 were given after tandem HDCT/auto-SCT. Of the 50 patients, 49 underwent a first HDCT/auto-SCT and 47 underwent a second HDCT/auto-SCT. The tumor relapsed or progressed in 14 patients, secondary malignancy developed in one patient and one patient died from chronic lung disease. Therefore, 34 patients remained event free with a median follow-up of 54.5 months (range, 14-94 months) from diagnosis. The probabilities of 5-year OS and EFS for all 50 patients were 77.0% (95% confidence interval (CI), 63.7-90.3) and 71.4% (95% CI, 58.7-84.1), respectively. However, all patients who remained event free for >3 years after tandem HDCT/auto-SCT experienced late adverse effects. Chemotherapeutic dose-escalation strategy using tandem HDCT/auto-SCT was very encouraging for survival. However, further studies incorporating newer treatment modalities are needed to reduce late adverse effects without jeopardizing the survival rate.
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PMID:Tandem high-dose chemotherapy and autologous stem cell transplantation in patients with high-risk neuroblastoma: results of SMC NB-2004 study. 2263 47

Pleuroparenchymal fibroelastosis (PPFE), which is primarily diagnosed in adults, is a progressive lung pathology associated with significant morbidity and mortality. PPFE is characterized by pleural and subpleural parenchymal disease causing dyspnea, cough, and recurrent pneumothoraces. PPFE can be precipitated by autoimmune disorders, recurrent respiratory infections, chemotherapy, and transplant. We describe the youngest recorded patient to develop PPFE, whose symptoms began several years after treatment for neuroblastoma. Her symptoms were initially mistaken for worsening asthma, and multiple comorbidities developed during the prolonged time to recognition of PPFE and she progressed to fatal lung disease before potentially curative lung transplantation could occur.
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PMID:Pleuroparenchymal fibroelastosis in an 8-year old treated for neuroblastoma. 3194 79