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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pediatricians are often the health care providers who first detect the signs and symptoms of childhood cancer. Although pediatric malignancies are rare diseases, early diagnosis is an important factor leading to high cure rates of many types of cancers including retinoblastomara, Wilms' tumor, hepatoblastoma, rhabdomyosarcoma. thyroid carcinoma, and other solid tumors. A number of familial cancer syndromes present with childhood cancers that can be recognized or diagnosed by pediatricians. The genetic origins of several syndromes have been elucidated. Genetic testing is not yet available for all of these inherited cancers. A frequently updated list of genetic tests is available at www.genetests.org. The ordering and interpreting of genetic tests, however, is often best done by trained genetic counselors. The pediatrician will play a vital on-going role in following the at-risk child. In many of syndromes discussed, the cost effectiveness of the tests as well as that of any potential intervention needs further study. The role of the subtle genetic polymorphisms in pediatric tumorigenesis. many more of which will undoubtedly be described in the coming years, has not yet been translated into defined needs for interventions. Perhaps in the future it will be possible to understand the additive effect of multiple genetic polymorphisms and to determine genetic profiles of high cancer risk. Until suitable interventions are established, however, the study of genetic variability and cancer will await practical significance. Undoubtedly other major important cancer genes are yet to be discovered and characterized. An additional challenge is the counseling and management of children and adults who have a strong family history of cancer yet who do not have a recognizable syndrome. The role of the primary pediatrician is to recognize the major cancer genetic syndromes, to make appropriate referrals for genetic counseling and testing when indicated, and to ensure that adequate screening tests are being done.
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PMID:Genetic predisposition and screening in pediatric cancer. 1258 Mar 71

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

Cardiac tumors in infants and children are extremely rare. Their clinical manifestations vary widely from asymptomatic presentations to life-threatening cardiac events. Improvements in diagnostic techniques, such as those offered by echocardiography, have made early detection of cardiac masses possible, with or without the presence of clinical symptoms. Fifteen pediatric cases of cardiac tumor were diagnosed at our institution between July 1989 and July 2002 (male-female ratio, 10:5; age range, one day to nine years). Eleven of the cases involved primary cardiac tumors [rhabdomyoma (n = 10) and fibroma (n = 1)]. Ninety percent of the rhabdomyomas (9/10) were associated with tuberous sclerosis. Four of the fifteen cases were secondary metastatic tumors [hepatoblastoma (n = 2), hepatoma (n = 1) and rhabdomyosarcoma (n = 1)]. Clinical manifestations of the cardiac tumors included shortness of breath (n = 5), seizure (n = 4), cardiac murmur (n = 6), and cyanosis (n = 3). Surgery was performed for three of 11 patients with primary cardiac tumor (27%) due to severe obstruction of flow (n = 2) and other cardiac defects (n = 1). The primary cardiac tumor spontaneously regressed in five of the tuberous sclerosis patients. All four of the patients with secondary cardiac tumors continued to receive chemotherapy, and only one of them subsequently experienced regression. Based on our experiences, we conclude that: 1) rhabdomyoma is the most common primary cardiac tumor in children; 2) most pediatric tumors are associated with tuberous sclerosis; 3) clinical presentation is determined by the tumor size and number of tumors, and whether expansion of the malignancy has resulted in cardiac blood-flow obstruction; 4) there is a strong possibility of regression of the primary cardiac tumor, with surgery recommended only when cardiac symptoms are severe; and, 5) unless there is a significant obstruction of blood flow, chemotherapy is still the treatment of choice for secondary cardiac tumors.
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PMID:Cardiac tumors in infants and children. 1467 25

A mixed epithelial and mesenchymal tumor of the liver arising in an adult is rare and is mostly classified as sarcomatoid hepatocellular carcinoma (HCC). In this study, a case of sarcomatoid HCC in an adult with hepatoblastoma (HB)-like features, which produced difficulty in the differential diagnosis between sarcomatoid HCC and mixed HB, is presented. The epithelial component of the tumor composed of poorly differentiated HCC, Edmondson's grade III, and more primitive components, which were embryonal and small cell undifferentiated components of HB-like areas. The small undifferentiated cells surrounded HCC and the embryonal component of HB-like area, and revealed transition partly to areas of rhabdomyosarcoma. A small portion of chondrosarcoma was also noted. Immunohistochemical analysis showed that HCC and the embryonal component of HB-like areas expressed alpha-fetoprotein (AFP) and cytokeratin 8. The small undifferentiated cells were negative for AFP but stained with cytokeratin 8 as well as CD56, which is a marker of primitive cells in many sarcoma and HB. It is not certain whether small undifferentiated cells belong to hepatic progenitor cells or primitive mesenchymal cells. Polymerase chain reaction-single-strand conformation polymorphism analysis for beta-catenin mutation using microdissection revealed no mutation of any components. A review was undertaken of the cases previously reported as adult hepatoblastoma without detailed immunohistochemical study and consider many of them may be sarcomatoid HCC. These primitive and sarcomatoid components would be arising from the dedifferentiation process of HCC.
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PMID:Sarcomatoid hepatocellular carcinoma with hepatoblastoma-like features in an adult. 1514 5

Chromosomal region 11p15.5 shows frequent maternal allelic loss in embryonal tumors, including rhabdomyosarcoma (RMS), Wilms' tumor (WT) and hepatoblastoma (HB), consistent with the presence of at least one tumor suppressor gene in this region, which should be paternally imprinted, i.e., expressed from the maternal allele only. The BWR1A gene encodes a polyspecific transmembrane transporter and is located on 11p15.5. It is highly expressed in liver, paternally imprinted and was found to be mutated in an RMS cell line, making it a plausible tumor suppressor gene for HB. We therefore screened 62 HBs, 3 HB cell lines and 1 pediatric hepatocellular carcinoma for BWR1A mutations using single-strand conformation polymorphism analysis. Allelic loss on 11p15.5 was assessed by PCR-based microsatellite analysis in 56 of the cases for which constitutional DNA was available. BWR1A mRNA expression was determined in 14 HBs by differential RT-PCR of matched cDNA samples from tumor and normal liver. Western blot analysis was performed on 4 tumors and matching normal liver tissue. Except for sequence polymorphisms (in exons 2, 3 and 10 as well as in introns 6 and 7), no mutations were found. Thirteen HBs (23%) had allelic loss on 11p15.5; this included BWR1A in 12 but it was telomeric to BWR1A in 1. Expression of BWR1A mRNA was reduced in 11 out of 14 cases by 19-92%, independent from allelic loss of 11p15.5. By Western blot analysis, all 4 tumors and matching liver samples displayed a 48-51 kd band corresponding to BWR1A. These results make it unlikely that BWR1A is the target of the allelic deletions in HB. However, similar to the putative 11p15.5 tumor suppressor H19, BWR1A appears to be reduced in expression. Reduced expression in the absence of mutations may contribute to HB development; however, to understand the significance of this finding will require further studies on the function of BWR1A, specifically its role in liver development.
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PMID:Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15.5 in hepatoblastoma. 1523 43

Most pediatric thoracic malignancy is pulmonary disease secondary to solid tumors of childhood. The management of isolated pulmonary metastases in adulthood is well documented. Little has been published to document the long-term outcome of pulmonary metastasectomy in childhood. A retrospective study was undertaken to assess the results of surgery for isolated pulmonary metastases. Twenty children underwent surgery over 12 years (mean follow-up 8 years). Five had Wilms' tumor (mean age 51 months), eight had osteogenic sarcoma (mean age 141 months), three had rhabdomyosarcoma (mean age 92 months), two had hepatoblastoma (mean age 30 months) and two had teratoma (mean age 72 months). Four had bilateral synchronous metastases and thoracotomies, and one had bilateral metachronous metastases and thoracotomies. Nineteen children were discharged well within 10 days of surgery. There was one early complication: a death due to pneumonia. Four children subsequently died postoperatively with cranial metastases (mean 29 months postoperatively). The remaining 16 children remain alive and well. As part of the combined therapy, these results would support an aggressive surgical approach to this disease. Preoperative assessment should include contrast enhanced computed tomogram of the head and chest as well as chest X-ray taken immediately preoperatively to exclude metastases. Bilateral synchronous and metachronous thoracotomy is well tolerated in childhood.
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PMID:Pulmonary metastasectomy for pediatric solid tumors. 1525 16

The fragility of the evidence for SV40 association with human cancer is seen in studies of NHL. A publication in 1999 stated that SV40 is rarely present in NHL. In 2002, two laboratories reported SV40 sequences in 42% to 43% of cases of NHL . One of these laboratories also detected SV40 sequences in small proportions of pediatric tumors (e.g., Wilm's tumor, hepatoblastoma, rhabdomyosarcoma, medulloblastoma, osteosarcoma, and retinoblastoma) and adult carcinomas (e.g., lung, colon, breast, and prostate) These positive results were not confirmed in subsequent studies published in 2003. Capello et al and Mackenzie et al failed to detect SV40 sequences in NHL tissues. Sanjose et al examined sera from patients with NHL and from controls for antibodies reactive to SV40 VLPs, and they detected no significant differences between the two groups. The association of SV40 with NHL is in doubt. An etiologic link between a virus and a cancer becomes plausible when evidence from different lines of enquiry (e.g., epidemiology, pathogenesis, and molecular mechanisms) is mutually reinforcing and together provides a coherent picture that can connect the biology the virus to the characteristics of the disease. The associations of human papillomaviruses with cervical cancer and hepatitis B and C viruses with hepatocellular carcinoma are examples in which the etiologic link is clear. With SV40 and mesothelioma, the data on viral sequences in tumors is inconsistent and disputed, and serologic evidence does not support any association. The epidemiologic data do not show that documented exposures tt SV40 increase the risk of mesothelioma. It seems improbable that a single virus (which cannot be conclusively demonstrated to be present in the community) contributes to the development of such a wide variety of tumors, spanning all age groups and histologic types. The weaknesses in the evidence linking SV40 with mesothelioma are summarized in Box 11 It seems unlikely that infection with SV40 contributes to the development of human mesothelioma or any other human cancer.
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PMID:Causality of mesothelioma: SV40 question. 1555 56

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

Cancer occurring in infants often has clinical and biological properties that are different from those of the same histologic type of cancer occurring in older children. The histologic distribution of cancers in infants and that in older children are also different. The aim of this study was to find these differences between infants and older children, and to compare the percent distribution of infant cancer subtypes with that reported by other countries. The authors collected infant cases diagnosed as having cancer from the database of the Cancer Registry in our Medical Center between 1995 and 2001. Subjects were selected subjects from inpatient logs, and their medical records were reviewed. Eighty-two infants (40 males and 42 females), including 12 neonates, were diagnosed with cancer over this 7-year period. Acute leukemia was diagnosed in 21 infants (25.6%; acute myeloid leukemia in 12, and acute lymphoblastic leukemia in 9), retinoblastoma in 14 (17.1%), neuroblastoma in 12 (14.6%), brain tumor in 9 (11.0%), germ cell tumor in 8 (9.8%), renal cancer in 8 (Wilms tumor 3, mesoblastic nephroma 1, renal sarcoma 1, rhabdoid tumor 3), hepatoblastoma in 5 (6.1%), and soft tissue sarcoma in 5 (rhabdomyosarcoma 1, fibrosarcoma 3, other sarcoma 1). The overall disease-free survival rate was 61.0% (50/82) with a median follow-up duration of 6.8 years for the survivors. The 4 most common types of cancer occurring in infants are the same in the present series and in most larger childhood cancer series reported by other countries; but rank differently. In this study there were more infants with acute leukemia and retinoblastoma, and less with neuroblastoma. The prognosis is poor for infant leukemia and rhabdoid tumor, while it is good for embryonal tumors and germ cell tumors occurring in infancy.
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PMID:Cancer in infants: a review of 82 cases. 1616 13

Small round cell tumors (SRCTs) are a group of malignancies (non-Hodgkin lymphoma, neuroblastoma, retinoblastoma, hepatoblastoma, nephroblastoma, rhabdomyosarcoma, small cell anaplastic carcinoma, Ewing sarcomal peripheral neuroectodermal tumor, and desmoplastic small round cell tumor), characterized both cytologically and histologically by a predominantly small round to oval, and relatively undifferentiated cells. Together they form a formidable group and an overwhelming majority of childhood malignancies. The patients may present in later (inoperable) stage with huge intrathoracic and intraabdominal mass, when chemotherapy and/or radiation therapy may be the first or only line of treatment. As a less invasive procedure fine needle aspiration (FNA) cytology has definite advantage over surgical excision biopsy to arrive at a tissue diagnosis before initiation of therapy. Because of the morphologic similarities, the SRCTs may pose a differential diagnostic problem in the practice of clinical cytology, especially when they are poorly differentiated. Important cytomorphological features, which help in the identification of various SRCTs include completely dissociated cell population and lymphoglandular bodies (cytoplasmic fragments) in non-Hodgkin lymphoma (NHL), eosinophilicfibrillar material and Homer-Wright rosettes along with cellular processes in neuroblastoma, acinar formation in hepatoblastoma, blastema cells with tubular differentiation in nephroblastoma, tadpole shaped cells in embryonal rhabdomyosarcoma, extreme nuclear molding and perinuclear blue inclusion in small cell anaplastic carcinoma (SCAC), irregular, punched out and large cytoplasmic vacuolations due to glycogen in Ewing sarcoma, and sheets of undifferentiated small round cells surrounded by collageneous stroma in desmoplastic small round cell tumor (DSRCT). Some of these features such as nuclear molding, rosette, and acinar formation are noticed in more than one type of SRCTs. Moreover, the characteristic cytomorphological features may be present in 70-80% cases and for categorization of the remaining cases, contribution from ancillary studies is essential. It is suggested that cytomorphological features along with one or more of the parameters such as special stains (cytochemistry), immunocytochemistry (ICC), electron microscopy (EM), tissue culture, DNA ploidy, karyotype and molecular analysis can increase the diagnostic accuracy of SRCTs. However, these facilities may not be available in all the laboratories, especially in the developing countries, and even if available in a limited form, a tissue diagnosis has to be offered often by FNA cytology based on morphological features, as a life saving measure in seriously ill patients before the results of ancillary studies are finalized.
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PMID:Fine-needle aspiration (FNA) cytology diagnosis of small round cell tumors: value and limitations. 1629 13


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