Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 15 de 15
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Neuro Oncol ; 2019 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-31883020

RESUMO

BACKGROUND: Controversy exists as to what may be defined as standard of care (including markers for stratification) for patients with Atypical Teratoid Rhabdoid Tumors (ATRT). The European Rhabdoid Registry, EU-RHAB, recruits uniformly treated patients and offers standardized genetic and DNA methylation analyses. METHODS: Clinical, genetic and treatment data of 143 patients from 13 European countries were analyzed (2009 - 2017). Therapy consisted of surgery, anthracycline-based induction and either radiotherapy or high dose chemotherapy following a consensus among European experts. FISH, MLPA and sequencing were employed for assessment of somatic and germline mutations in SMARCB1. Molecular subgroups (ATRT-SHH, -TYR and -MYC) were determined using DNA-methylation arrays resulting in profiles of 84 tumors. RESULTS: Median age at diagnosis of 67 girls and 76 boys was 29.5 months. 5-year overall survival (OS) and event-free survival (EFS) were 34.7±4.5% and 30.5±4.2%. Tumors displayed allelic partial/whole gene deletions (66%; 122/186 alleles) or single nucleotide variants (34%; 64/186 alleles) of SMARCB1. Germline mutations were detected in 26% of ATRT (30/117). The patient cohort consisted of 47% ATRT-SHH (39/84), 33% ATRT-TYR (28/84), and 20% ATRT-MYC 17/84). Age <1 year, non-TYR signature (ATRT-SHH or -MYC), metastatic or synchronous tumors, germline mutation, incomplete remission and omission of radiotherapy were negative prognostic factors in univariate analyses (p<0.05). An adjusted multivariate model identified age <1 year and a non-TYR signature as independent negative predictors of OS: high risk (<1 year + non-TYR; 5-year OS = 0%), intermediate risk (<1 year + ATRT-TYR or ≥1 year + non-TYR; 5-year OS = 32.5±8.7%) and standard risk (≥1 year + ATRT-TYR, 5-year OS = 71.5±12.2%). CONCLUSIONS: Age and molecular subgroup status are independent risk factors for survival in children with ATRT. Our model warrants validation within future clinical trials.

2.
J Neurooncol ; 145(1): 177-184, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31522324

RESUMO

INTRODUCTION: Diffuse intrinsic pontine glioma (DIPG) is a rare clinically, neuro-radiologically, and molecularly defined malignancy of the brainstem with a median overall survival of approximately 11 months. Our aim is to evaluate the current tendency for its treatment in Europe in order to develop (inter)national consensus guidelines. METHODS: Healthcare professionals specialized in DIPG were asked to fill in an online survey with questions regarding usual treatment strategies at diagnosis and at disease progression in their countries and/or their centers, respectively. RESULTS: Seventy-four healthcare professionals responded to the survey, of which 87.8% were pediatric oncologists. Only 13.5% of the respondents biopsy all of their patients, 41.9% biopsy their patients infrequently. More than half of the respondents (54.1%) treated their patients with radiotherapy only at diagnosis, whereas 44.6% preferred radiotherapy combined with chemotherapy. When the disease progresses, treatment strategies became even more diverse, and the tendency for no treatment increased from 1.4% at diagnosis to 77.0% after second progression. 36.5% of the healthcare professionals treat children younger than 3 years differently than older children at diagnosis. This percentage decreased, when the disease progresses. Most of the participants (51.4%) included less than 25% of their patients in clinical trials. CONCLUSION: This survey demonstrates a large heterogeneity of treatment regimens, especially at disease progression. We emphasize the need for international consensus guidelines for the treatment of DIPG, possible by more collaborative clinical trials.

3.
J Neurooncol ; 141(2): 253-263, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30446898

RESUMO

PURPOSE: Diffuse intrinsic pontine glioma is the most aggressive form of high grade glioma in children with no effective therapies. There have been no improvements in survival in part due poor understanding of underlying biology, and lack of representative in vitro and in vivo models. Recently, it has been found feasible to use both biopsy and autopsy tumors to generate cultures and xenograft models. METHODS: To further model development, we evaluated the collective international experience from 8 collaborating centers to develop DIPG pre-clinical models from patient-derived autopsies and biopsies. Univariate and multivariate analysis was performed to determine key factors associated with the success of in vitro and in vivo PDX development. RESULTS: In vitro cultures were successfully established from 57% of samples (84.2% of biopsies and 38.2% of autopsies). Samples transferred in DMEM media were more likely to establish successful culture than those transported in Hibernate A. In vitro cultures were more successful from biopsies (84.2%) compared with autopsies (38.2%) and as monolayer on laminin-coated plates than as neurospheres. Primary cultures successfully established from autopsy samples were more likely to engraft in animal models than cultures established from biopsies (86.7% vs. 47.4%). Collectively, tumor engraftment was more successful when DIPG samples were directly implanted in mice (68%), rather than after culturing (40.7%). CONCLUSION: This multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of DIPG. The results can lead to further optimization of DIPG model development and ultimately assist in the investigation of new therapies for this aggressive pediatric brain tumor.


Assuntos
Neoplasias do Tronco Encefálico/fisiopatologia , Neoplasias do Tronco Encefálico/terapia , Glioma/fisiopatologia , Glioma/terapia , Ensaios Antitumorais Modelo de Xenoenxerto/métodos , Animais , Neoplasias do Tronco Encefálico/genética , Sobrevivência Celular , Células Cultivadas , Modelos Animais de Doenças , Glioma/genética , Histonas/genética , Humanos , Camundongos , Mutação , Estudos Retrospectivos
4.
J Neurooncol ; 141(2): 265, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30484110

RESUMO

There are two errors and one omission in the original article. Author Gottardo's correct name is Nicholas G. Gottardo, author Hulleman's correct affiliation is no. 3 (VUMC, Amsterdam), and the Acknowledgements should include the following sentence: "We would like to thank Dr Angel Montero Carcaboso (Hospital Sant Joan de Deu, Barcelona, Spain) for generously supplying the HSJD-DIPG007 cells."

5.
Pediatr Blood Cancer ; 65(12): e27386, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30230225

RESUMO

BACKGROUND: High-risk neuroblastoma (HR NBL) treatment requires intensive induction chemotherapy. The profoundly emetogenic agents used can compromise nutritional status. Our institution introduced a new antiemetic guideline in 2010 incorporating regular dexamethasone, in addition to ondansetron, for all highly emetogenic protocols. PROCEDURE: A retrospective comparative review of pediatric patients diagnosed with HR NBL who received rapid COJEC induction chemotherapy as per HR-SIOPEN NBL trial. Prophylactic antiemetics were prescribed regardless of chemotherapy emetogenicity in group A (2004-2010) but for defined time periods considering chemotherapy emetogenicity in group B (2010-2017). RESULTS: Sixty-three children were eligible for inclusion (median age, 31 months; range, 1-88 months). Group A had more episodes of emesis than group B (189 vs. 116, P < 0.0001). There was a significant difference in weight-for-age Z score change between the groups by induction end (P = 0.0027). Four children (13%) in group A lost >10% body weight versus none in group B. Nutrition support (NS) was utilized by 29 children (94%) in group A and 22 children (69%) in group B. Group A had a median of 3 (range, 1-7) admissions for febrile neutropenia (FN) versus a median of 1.5 (range, 0-4) for group B (P = 0.003) during induction. CONCLUSION: The review of our guidelines led to reduced emesis frequency for group B. They also required less NS, followed expected growth trajectories more closely and had fewer FN admissions. We propose that this may have occurred due to better emesis control resulting in improved nutritional status and associated enhanced immune function.


Assuntos
Antieméticos/uso terapêutico , Quimioterapia de Indução/efeitos adversos , Neuroblastoma/tratamento farmacológico , Estado Nutricional/efeitos dos fármacos , Vômito/prevenção & controle , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Criança , Pré-Escolar , Dexametasona/uso terapêutico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Náusea/induzido quimicamente , Náusea/prevenção & controle , Ondansetron/uso terapêutico , Guias de Prática Clínica como Assunto , Estudos Retrospectivos , Vômito/induzido quimicamente
6.
J Nucl Med ; 59(10): 1524-1530, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29653979

RESUMO

To determine whether the current 18F-FDG PET response criterion for skeletal involvement in Hodgkin lymphoma (HL) is suitable, we performed a systematic evaluation of the different types of skeletal involvement and their response on PET after 2 cycles of chemotherapy (PET-2). A secondary objective was to observe the influence of the initial uptake intensity (measured as qPET) and initial metabolic tumor volume (MTV) of skeletal lesions on the PET-2 response. Methods: The initial PET scans of 1,068 pediatric HL patients from the EuroNet-PHL-C1 trial were evaluated for skeletal involvement by central review. Three types of skeletal lesions were distinguished: PET-only lesions (those detected on PET only), bone marrow (BM) lesions (as confirmed by MRI or BM biopsy), and bone lesions. qPET and MTV were calculated for each skeletal lesion. All PET-2 scans were assessed for residual tumor activity. The rates of complete metabolic response for skeletal and nodal involvement on PET-2 were compared. Results: Of the 1,068 patients, 139 (13%) showed skeletal involvement (44 PET-only, 32 BM, and 63 bone). Of the 139 patients with skeletal involvement, 101 (73%) became PET-2-negative in the skeleton and 94 (68%) became PET-2-negative in the lymph nodes. The highest number of PET-2-negative scans in the skeleton was 42 (95%) in the 44 PET-only patients, followed by 22 skeletal lesions (69%) in the 32 BM patients and 37 (59%) in the 63 bone patients. Lesions that became PET-2-negative showed a lower initial median qPET (2.74) and MTV (2 cm3) than lesions that remained PET-2-positive (3.84 and 7 cm3, respectively). Conclusion: In this study with pediatric HL patients, the complete response rate for skeletal involvement on PET-2 was similar to that for nodal involvement. Bone flare seemed to be irrelevant. Overall, the current skeletal PET response criterion-comparison with the local skeletal background-is well suited. The initial qPET and MTV of skeletal lesions were predictive of the PET-2 result. Higher values for both parameters were associated with a worse PET-2 response.


Assuntos
Neoplasias da Medula Óssea/diagnóstico por imagem , Neoplasias Ósseas/diagnóstico por imagem , Fluordesoxiglucose F18 , Doença de Hodgkin/tratamento farmacológico , Quimioterapia de Indução , Tomografia por Emissão de Pósitrons , Adolescente , Neoplasias da Medula Óssea/secundário , Neoplasias Ósseas/secundário , Criança , Feminino , Doença de Hodgkin/patologia , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
7.
Cancer Cell ; 32(4): 520-537.e5, 2017 10 09.
Artigo em Inglês | MEDLINE | ID: mdl-28966033

RESUMO

We collated data from 157 unpublished cases of pediatric high-grade glioma and diffuse intrinsic pontine glioma and 20 publicly available datasets in an integrated analysis of >1,000 cases. We identified co-segregating mutations in histone-mutant subgroups including loss of FBXW7 in H3.3G34R/V, TOP3A rearrangements in H3.3K27M, and BCOR mutations in H3.1K27M. Histone wild-type subgroups are refined by the presence of key oncogenic events or methylation profiles more closely resembling lower-grade tumors. Genomic aberrations increase with age, highlighting the infant population as biologically and clinically distinct. Uncommon pathway dysregulation is seen in small subsets of tumors, further defining the molecular diversity of the disease, opening up avenues for biological study and providing a basis for functionally defined future treatment stratification.


Assuntos
Neoplasias do Tronco Encefálico/genética , Glioma/genética , Histonas/genética , Mutação , Adolescente , Neoplasias do Tronco Encefálico/patologia , Proteínas de Ciclo Celular/genética , Criança , Pré-Escolar , DNA Topoisomerases Tipo I/genética , Exoma , Proteínas F-Box/genética , Proteína 7 com Repetições F-Box-WD , Feminino , Dosagem de Genes , Glioma/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas Proto-Oncogênicas/genética , Proteínas Repressoras/genética , Ubiquitina-Proteína Ligases/genética , Adulto Jovem
8.
J Neurooncol ; 132(2): 255-266, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-28110411

RESUMO

Diffuse intrinsic pontine glioma (DIPG) is a rare and deadly childhood malignancy. After 40 years of mostly single-center, often non-randomized trials with variable patient inclusions, there has been no improvement in survival. It is therefore time for international collaboration in DIPG research, to provide new hope for children, parents and medical professionals fighting DIPG. In a first step towards collaboration, in 2011, a network of biologists and clinicians working in the field of DIPG was established within the European Society for Paediatric Oncology (SIOPE) Brain Tumour Group: the SIOPE DIPG Network. By bringing together biomedical professionals and parents as patient representatives, several collaborative DIPG-related projects have been realized. With help from experts in the fields of information technology, and legal advisors, an international, web-based comprehensive database was developed, The SIOPE DIPG Registry and Imaging Repository, to centrally collect data of DIPG patients. As for April 2016, clinical data as well as MR-scans of 694 patients have been entered into the SIOPE DIPG Registry/Imaging Repository. The median progression free survival is 6.0 months (95% Confidence Interval (CI) 5.6-6.4 months) and the median overall survival is 11.0 months (95% CI 10.5-11.5 months). At two and five years post-diagnosis, 10 and 2% of patients are alive, respectively. The establishment of the SIOPE DIPG Network and SIOPE DIPG Registry means a paradigm shift towards collaborative research into DIPG. This is seen as an essential first step towards understanding the disease, improving care and (ultimately) cure for children with DIPG.


Assuntos
Neoplasias do Tronco Encefálico/diagnóstico por imagem , Glioma/diagnóstico por imagem , Serviços de Informação , Cooperação Internacional , Imagem por Ressonância Magnética , Sistema de Registros , Criança , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Ponte/diagnóstico por imagem , Adulto Jovem
9.
Hum Pathol ; 53: 114-20, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27036314

RESUMO

We report a 7-month-old female infant with a multicystic left renal tumor having histologic features predominantly of a cystic nephroma, but with microscopic cellular foci which contained atypical mitotic figures and anaplastic nuclei. Immunohistochemistry showed strong p53 reactivity in the anaplastic region. DICER1 sequencing confirmed 2 mutations: germ line mutation c.2450delC and c.5438A>G somatic within the tumor. Despite an initial consideration of cystic partially differentiated nephroblastoma, the presence of anaplasia ruled that possibility out, as this is not an acceptable feature for that diagnosis. Moreover, the germ line DICER1 mutation prompted consideration that this case represents a unique "nascent" anaplastic sarcoma of kidney, and further immunohistochemical workup demonstrated cytoplasmic, but no nuclear WT-1 reactivity in the cellular foci. The importance of meticulous sampling of cystic lesions is highlighted by this unprecedented case, which lends support to the recent recognition of anaplastic sarcoma of kidney as a DICER1-associated cancer.


Assuntos
Biomarcadores Tumorais/genética , RNA Helicases DEAD-box/genética , Mutação em Linhagem Germinativa , Neoplasias Renais/genética , Neoplasias Císticas, Mucinosas e Serosas/genética , Ribonuclease III/genética , Sarcoma/genética , Biomarcadores Tumorais/análise , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Lactente , Neoplasias Renais/química , Neoplasias Renais/patologia , Neoplasias Císticas, Mucinosas e Serosas/química , Neoplasias Císticas, Mucinosas e Serosas/patologia , Fenótipo , Sarcoma/química , Sarcoma/patologia , Proteína Supressora de Tumor p53/análise , Proteína Supressora de Tumor p53/genética , Proteínas WT1/análise
10.
Pediatrics ; 134(4): e1199-202, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25180276

RESUMO

The neonatal presentation of cardiac rhabdomyomas varies in severity from severe outflow tract obstruction to minimal cardiac dysfunction. The natural history for these lesions is spontaneous regression in the majority of cases. We describe a newborn boy with severe left ventricular outflow tract obstruction secondary to a large rhabdomyoma. The tumor infiltrated the paraaortic area and extended around the origin of the right coronary artery, making surgical resection challenging. Oral sirolimus therapy resulted in a rapid regression of the tumor and alleviation of outflow tract obstruction within 1 month of treatment. This is the first report of sirolimus therapy in alleviating critical left ventricular outflow tract obstruction in this condition.


Assuntos
Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/tratamento farmacológico , Ventrículos do Coração/diagnóstico por imagem , Rabdomioma/diagnóstico por imagem , Rabdomioma/tratamento farmacológico , Sirolimo/uso terapêutico , Antibióticos Antineoplásicos/uso terapêutico , Humanos , Recém-Nascido , Masculino , Indução de Remissão , Ultrassonografia
11.
Cancer Genet ; 207(9): 398-402, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25085603

RESUMO

Nomenclature for the three recognized forms of rhabdoid tumor reflect their anatomic localization and include malignant rhabdoid tumor of the kidney (MRTK), extrarenal extracranial rhabdoid tumor (EERT), and atypical teratoid rhabdoid tumor (ATRT) involving the central nervous system. A strikingly simple karyotype belies the fact that rhabdoid tumors are among the most lethal human cancers, and now early strides are beginning to elucidate their molecular pathogenesis. Rhabdoid tumors are largely confined to the pediatric population, where they occur preferentially during infancy. Given the rarity of this tumor, international consensus on best treatment has only recently been achieved in conjunction with the establishment of the European Rhabdoid Tumor Registry. Between 1986 and 2013, 25 pediatric patients were diagnosed with rhabdoid tumor in the Republic of Ireland. Of these patients, 13 presented with ATRT, eight had MRTK, and four had EERT. The mean age at diagnosis was 38.8 months, with an equal sex incidence. Because of the lack of a standardized treatment strategy for rhabdoid tumors, these patients have been treated largely according to anatomic site, based on sarcoma, renal, or brain tumor protocols contemporary to their diagnoses. Of the patients, 84% received chemotherapy, 80% underwent surgery, and 44% had radiation therapy. The outcome overall was poor, independent of anatomic location. The overall survival rate was 24%, and mean time to death was just under 9 months.


Assuntos
Neoplasias do Sistema Nervoso Central/classificação , Neoplasias Renais/classificação , Tumor Rabdoide/classificação , Teratoma/classificação , Adolescente , Sequência de Bases , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Criança , Pré-Escolar , Proteínas Cromossômicas não Histona/genética , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Lactente , Recém-Nascido , Irlanda , Cariótipo , Neoplasias Renais/genética , Neoplasias Renais/mortalidade , Masculino , Recidiva Local de Neoplasia/patologia , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Proteína SMARCB1 , Deleção de Sequência , Taxa de Sobrevida , Teratoma/genética , Teratoma/patologia , Fatores de Transcrição/genética
12.
Eur J Nucl Med Mol Imaging ; 41(7): 1301-8, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24604592

RESUMO

BACKGROUND: Interim FDG-PET is used for treatment tailoring in lymphoma. Deauville response criteria consist of five ordinal categories based on visual comparison of residual tumor uptake to physiological reference uptakes. However, PET-response is a continuum and visual assessments can be distorted by optical illusions. OBJECTIVES: With a novel semi-automatic quantification tool we eliminate optical illusions and extend the Deauville score to a continuous scale. PATIENTS AND METHODS: SUVpeak of residual tumors and average uptake of the liver is measured with standardized volumes of interest. The qPET value is the quotient of these measurements. Deauville scores and qPET-values were determined in 898 pediatric Hodgkin's lymphoma patients after two OEPA chemotherapy cycles. RESULTS: Deauville categories translate to thresholds on the qPET scale: Categories 3, 4, 5 correspond to qPET values of 0.95, 1.3 and 2.0, respectively. The distribution of qPET values is unimodal with a peak representing metabolically normal responses and a tail of clearly abnormal outliers. In our patients, the peak is at qPET = 0.95 coinciding with the border between Deauville 2 and 3. qPET cut values of 1.3 or 2 (determined by fitting mixture models) select abnormal metabolic responses with high sensitivity, respectively, specificity. CONCLUSIONS: qPET methodology provides semi-automatic quantification for interim FDG-PET response in lymphoma extending ordinal Deauville scoring to a continuous scale. Deauville categories correspond to certain qPET cut values. Thresholds between normal and abnormal response can be derived from the qPET-distribution without need for follow-up data. In our patients, qPET < 1.3 excludes abnormal response with high sensitivity.


Assuntos
Fluordesoxiglucose F18 , Doença de Hodgkin/diagnóstico por imagem , Processamento de Imagem Assistida por Computador/métodos , Tomografia por Emissão de Pósitrons/métodos , Adolescente , Transporte Biológico , Criança , Fluordesoxiglucose F18/metabolismo , Doença de Hodgkin/metabolismo , Humanos
13.
BMJ Case Rep ; 20122012 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-22962373

RESUMO

The authors describe the case of a 16-month-old girl who presented with bilateral hydronephrosis and renal failure secondary to bilateral renal pelvic botryoid Wilms' tumour (nephroblastoma). The term 'botryoid' describes an intrapelvic polypoid renal Wilms tumour, either extending from the renal parenchyma or primarily pelvis-based tumour. Both tumours filled the renal pelvis and extended down the proximal ureter, with no intraparenchymal tumour seen. Bilateral intralobar nephrogenic rests were present. Histological examination demonstrated triphasic nephroblastoma, with focal rhabdomyomatous differentiation of the stromal element bilaterally. Postchemotherapy, the patient underwent bilateral nephrectomy. Post complete resection of her bilateral disease, this patient has had an excellent outcome. This is only the third reported case of bilateral botryoid Wilms' tumour. While the condition is extremely rare, it should be included in the differential diagnosis of a young child with bilateral renal pelvic masses.


Assuntos
Neoplasias Renais/complicações , Neoplasias Renais/patologia , Insuficiência Renal/etiologia , Tumor de Wilms/complicações , Tumor de Wilms/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimioterapia Adjuvante , Dactinomicina/administração & dosagem , Feminino , Humanos , Hidronefrose/etiologia , Lactente , Neoplasias Renais/terapia , Terapia Neoadjuvante , Nefrectomia , Vincristina/administração & dosagem , Tumor de Wilms/terapia
14.
Pediatr Dev Pathol ; 14(3): 244-7, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21054156

RESUMO

Extrarenal Wilms tumor (ERWT) is a well-established entity which most commonly arises within the genitourinary tract, including intracoelomic paranephric soft tissue. Rarely, ERWT arises within teratoma, and it tends to occur predominantly in distinct settings, such as females with spinal defects and males with testicular teratomas. We report a unique ERWT arising within an extracoelomic teratoma of the paraspinal musculature, thereby expanding the range of reported locations for this unusual tumor.


Assuntos
Neoplasias Primárias Múltiplas/patologia , Neoplasias de Tecidos Moles/patologia , Teratoma/patologia , Tumor de Wilms/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Feminino , Humanos , Lactente , Neoplasias Primárias Múltiplas/tratamento farmacológico , Neoplasias de Tecidos Moles/tratamento farmacológico , Teratoma/tratamento farmacológico , Tumor de Wilms/tratamento farmacológico
15.
Brain Pathol ; 17(2): 151-64, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17388946

RESUMO

Among the variants of medulloblastoma in the current WHO classification of nervous system tumors, the desmoplastic variant, which has been reported to constitute 5%-25% of pediatric medulloblastomas, is defined by its nodular collections of neurocytic cells bounded by desmoplastic internodular zones. We have studied the frequency, morphological features and biological behavior of medulloblastomas in two contemporaneous SIOP/UKCCSG trial cohorts of children with medulloblastomas, CNS9102 (n = 315) and CNS9204 (n = 35), focusing on tumors with nodular and desmoplastic phenotypes. In children aged 3-16 years (CNS9102), the nodular/desmoplastic medulloblastoma represented 5% of all tumors, while in infants aged <3 years (CNS9204) this variant represented 57% of medulloblastomas. Using iFISH to detect molecular cytogenetic abnormalities in medulloblastomas with a nodular architecture, we demonstrated distinct genetic profiles in desmoplastic and non-desmoplastic (classic and anaplastic) tumors; in particular, abnormalities of chromosome 17 occurred in the latter, but not the former. Significantly different outcomes were demonstrated for classic, nodular/desmoplastic and large cell/anaplastic medulloblastomas in both cohorts. In conclusion, the nodular/desmoplastic medulloblastoma appears to have clinical, genetic and biological characteristics that set it apart from other variants of this tumor.


Assuntos
Neoplasias Cerebelares/genética , Neoplasias Cerebelares/patologia , Meduloblastoma/genética , Meduloblastoma/patologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Aberrações Cromossômicas , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lactente , Masculino
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA