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)

Rhabdomyosarcoma (RMS) is a soft tissue tumor of childhood frequently diagnosed between the first and fifth year of life. Children with the Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth syndrome characterized by exomphalos, macroglossia, and macrosomia, have an increased risk of developing childhood tumors including Wilms tumor, hepatoblastoma, neuroblastoma, and RMS. Although an association between RMS and the BWS is well accepted, only four cases have been reported to date, and of these, three were reported as embryonal RMS. Based on these data, an association between BWS and embryonal RMS has been proposed. We report three additional cases of BWS with RMS and review the clinical data for each patient as well as the pathology of their tumors. All three cases of BWS had histology consistent with alveolar RMS and were diagnosed at 6 weeks and 5 and 13 years of age. In two of these BWS cases, constitutional defects of 11p15 imprinting were demonstrated. Furthermore, cytogenetic analysis of the tumors did not detect the t(2;13) or t(1;13) translocations that generate the PAX3- or PAX7-FKHR fusion proteins common to alveolar RMS. These observations suggest that the development of alveolar RMS tumors in BWS may occur without the chromosomal rearrangement producing the PAX-FKHR fusion protein. In summary, we present three new cases of RMS demonstrating a new association between BWS and an uncommon subtype of alveolar RMS. The absence of the translocations commonly associated with alveolar rhabdomyosarcoma suggests a common 11p15 pathway for alveolar RMS and BWS.
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PMID:Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. 1182 61

Hematogenous brain metastases are uncommon in childhood. Three patients and a literature review that includes centers reporting up to 36 years of experience are presented in this study. The total of 2,040 patients includes our three examples of one neuroblastoma, one hepatoblastoma, and one adrenal carcinoma. Cerebral hematogenous metastases were reported in 4.4% of 429 patients with neuroblastoma, 1.9% of 574 rhabdomyosarcoma patients, 6.5% of 386 patients with osteosarcoma, 3.3% of 487 Ewing sarcoma patients, 3.6% of 44 melanoma patients, 13.5% of 37 patients with germ cell tumors, and 1.3% of the 78 patients with Wilms tumor. Five miscellaneous patients included three with a hepatoblastoma and one each with adrenal carcinoma and nephroma. All of the large series reports have been published in oncology journals.
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PMID:Hematogenous brain metastasis in children. 1195 30

Aberrant promoter methylation of tumor suppressor genes has not been fully investigated in pediatric tumors. Therefore, we examined the methylation status of nine genes (p16(INK4A), MGMT, GSTP1, RASSF1A, APC, DAPK, RARbeta, CDH1 and CDH13) in 175 primary pediatric tumors and 23 tumor cell lines using methylation-specific PCR. We studied the major forms of pediatric tumors--Wilms' tumor, neuroblastoma, hepatoblastoma, medulloblastoma, rhabdomyosarcoma, osteosarcoma, Ewing's sarcoma, retinoblastoma and acute leukemia. The most frequently methylated gene in both primary tumors and cell lines was RASSF1A (40, 86%, respectively). However, the rates of RASSF1A methylation in individual tumor types varied from 0 to 88%. RASSF1A methylation was tumor specific and was absent in adjacent non-malignant tissues. Methylation of the other genes was relatively rare in tumors and non-malignant tissues (less than 5%). Neuroblastoma patients with methylation of RASSF1A were significantly older than patients without methylation (P=0.008). There was no relationship between methylation status and other clinico-pathologic parameters. We treated six cell lines lacking RASSF1A mRNA with 5-aza-2'deoxycytidine to examine the relationship between methylation and transcriptional silencing. In five of six cell lines, restoration of RASSF1A mRNA was confirmed by RT-PCR. Our findings indicate that aberrant promoter methylation of RASSF1A may contribute to the pathogenesis of many different forms of pediatric tumors.
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PMID:Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines. 1208 24

A palpable mass in the abdomen of a child is a serious finding. In this article the authors present their single-institution experience of how these malignancies present and their distribution by age and diagnosis. The most common abdominal malignancies diagnosed in the pediatric population include neuroblastoma, Wilms' tumor, hepatoblastoma, lymphoma, and germ cell tumors. This article provides the busy general pediatrician with some guidelines of how to proceed after discovering a suspiciousmass.
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PMID:Malignant abdominal masses in children: quick guide to evaluation and diagnosis. 1258 Mar 70

In the last few years molecular genetic studies of childhood cancer have acquired great importance. Advances in these techniques have increased knowledge of the various genes involved in tumoral development. Genetic alterations can occur in three large groups of genes: oncogenes, tumor suppressor genes, and DNA repair genes. Cytogenetic analyses (karyotyping) are complemented by various molecular techniques, such as fluorescence in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR) and spectral karyotyping (SKY). These are the most reliable techniques and improve the sensitivity of karyotyping. The present article reviews the most representative and best characterized genes involved in the molecular etiology of childhood cancer, both hematologic malignancies (leukemia and lymphoma) and solid tumors (brain tumors, neuroblastoma, Wilms' tumor, hepatoblastoma, rhabdomyosarcoma, Ewing's sarcoma and retinoblastoma). Molecular techniques have enabled more precise diagnosis as well as identification of new prognostic factors and the development of more effective treatments. These techniques can also be useful in identifying minimal residual disease during and after treatment for leukemias, neuroblastomas and sarcomas, with the aim of predicting recurrence.
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PMID:[The role of molecular genetics in childhood cancer]. 1451 4

The authors describe a case of hepatoblastoma in a 15-month-old male and discuss the differential diagnosis and electron microscopic features of small round cell tumors. The patient was found to have an enlarged liver and was admitted to the hospital for further investigation. Fine-needle aspiration of the liver revealed small. uniform cells with increased nuclear/cytoplasmic ratio and focal rosette formation. A diagnosis of small blue cell neoplasm favoring hepatoblastoma was made, but neuroblastoma could not be ruled out. Electron microscopic analysis performed on the liver aspirate showed features of hepatic differentiation as well as absence of neuroblastic differentiation. The diagnosis of hepatoblastoma was made. Serum alpha-fetoprotein level of 33,250 mg/L confirmed the diagnosis. Liver biopsy performed subsequently showed tumor cells arranged in nests, acini, and trabeculae with mitotic figures. Electron microscopy showed the same findings as described above. The patient underwent chemotherapy for 4 months and subsequently a partial liver resection was performed. This case illustrates the important role of electron microscopy in evaluating small round cell tumors in children.
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PMID:Hepatoblastoma in a 15-month-old male: cytomorphology, electron microscopy, and differential diagnosis. 1470 29

The aim of this study was to determine the risk factors for high-frequency hearing loss in children treated with cisplatin. We scored off-treatment pure-tone audiograms from 153 children (age 6 months to 18 years) who had completed cisplatin therapy (40-200 mg/m(2)/cycle) for germ cell tumours, hepatoblastoma, neuroblastoma or osteosarcoma. The risk of developing bilateral moderate to severe high-frequency hearing loss was significantly related to the age at treatment (P<0.001), and individual and cumulative cisplatin dosages (both P<0.005). Logistic regression showed that children younger than 5 years were at a greater risk of sustaining cisplatin ototoxicity than children older than 15 years, controlling for individual and cumulative doses of cisplatin (Odds Ratio (OR)=21.17, 95% Confidence Interval (CI): 2.48-180.94). Age at treatment and the cumulative dose of cisplatin were the two most important risk factors in predicting moderate to severe high-frequency hearing loss in children treated with cisplatin.
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PMID:Predicting cisplatin ototoxicity in children: the influence of age and the cumulative dose. 1551 5

Fetal tumors are a diverse group of neoplasms, which are unique in their histologic characteristics, anatomic distribution, and pathophysiology. The biologic behavior of tumors in the fetus may differ dramatically compared with that of the same tumor detected later in life. Teratomas are the dominant histologic type and constitute the majority of both extracranial and intracranial neoplasms. Although often histologically mature, they may prove lethal because of their location and metabolic demands on the fetus. Large solid tumors may lead to cardiovascular compromise and hydrops fetalis. Extracranial teratomas are most commonly located in the sacrococcygeal area, followed by the head and neck, chest, and retroperitoneum. Fetuses with intracranial tumors have a poor prognosis regardless of histologic type. There are, however, two notable exceptions: lipomas and choroid plexus papillomas, both of which have a more favorable outcome. Neuroblastoma is the most common fetal malignancy. It may be either solid or cystic and is more often located on the right side. It typically has favorable biologic markers and stage at presentation. The prognosis for prenatally diagnosed cases is excellent. Other fetal neoplasms include soft-tissue tumors (both benign and malignant), leukemia, mesenchymal hamartoma of the kidney, and liver tumors (hemangioendothelioma, mesenchymal hamartoma, and hepatoblastoma).
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PMID:From the archives of the AFIP: a comprehensive review of fetal tumors with pathologic correlation. 1565 97

Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome. Complications include neonatal hypoglycemia and an increased risk for Wilms tumor, adrenal cortical carcinoma, hepatoblastoma, rhabdomyosarcoma, and neuroblastoma, among others. Perinatal mortality can result from complications of prematurity, pronounced macroglossia, and rarely cardiomyopathy. The molecular basis of Beckwith-Wiedemann syndrome is complex, involving deregulation of imprinted genes found in 2 domains within the 11p15 region: telomeric Domain 1 (IGF2 and H19) and centromeric Domain 2 (KCNQ1, KCNQ1OT1, and CDKN1C). Topics discussed in this article are organized as a series of perspectives: general, historical, epidemiologic, clinical, pathologic, genetic/molecular, diagnostic, and differential diagnostic.
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PMID:Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives. 1601 Apr 95

The prognosis for children with malignant solid tumors has improved dramatically in Japan. During the last two decades, various groups have conducted sequential studies of the treatment of children with neuroblastoma, Wilms' tumor, and hepatoblastoma. Most institutes participated in nonrandomized trials designed to evaluate the safety and efficacy of combination chemotherapy, surgery, and radiotherapy in each group study and treated children with these tumors The results are reviewed and areas for future investigation are identified.
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PMID:[Treatment strategy for malignant solid tumors in childhood]. 1604 83


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