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2.
J Pediatr Hematol Oncol ; 46(4): 211-215, 2024 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-38573000

RESUMO

Diffuse intrinsic pontine gliomas are lethal tumors with a prognosis generally less than 1 year. Few cases of survivors of 5 years or more have been reported. This case report highlights the journey of a 9.5-year survivor who underwent 3 rounds of focal radiotherapy; she experienced 6 years of progression-free survival following the first round but ultimately succumbed to her disease. An autopsy revealed a favorable IDH1 mutation and the absence of H3K27M. This case reiterates the importance of extensive molecular analyses in diffuse intrinsic pontine gliomas and explores the potential benefit of re-irradiation in patients with positive responses and long periods of remission.


Assuntos
Neoplasias do Tronco Encefálico , Glioma Pontino Intrínseco Difuso , Humanos , Feminino , Neoplasias do Tronco Encefálico/patologia , Neoplasias do Tronco Encefálico/terapia , Neoplasias do Tronco Encefálico/mortalidade , Glioma Pontino Intrínseco Difuso/patologia , Glioma Pontino Intrínseco Difuso/terapia , Glioma Pontino Intrínseco Difuso/genética , Criança , Sobrevivência , Sobreviventes de Câncer , Evolução Fatal , Isocitrato Desidrogenase/genética , Prognóstico , Mutação
3.
Eur J Pediatr ; 183(6): 2549-2562, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38558313

RESUMO

Pediatric gliomas, consisting of both pediatric low-grade (pLGG) and high-grade gliomas (pHGG), are the most frequently occurring brain tumors in children. Over the last decade, several milestone advancements in treatments have been achieved as a result of stronger understanding of the molecular biology behind these tumors. This review provides an overview of pLGG and pHGG highlighting their clinical presentation, molecular characteristics, and latest advancements in therapeutic treatments.  Conclusion: The increasing understanding of the molecular biology characterizing pediatric low and high grade gliomas has revolutionized treatment options for these patients, especially in pLGG. The implementation of next generation sequencing techniques for these tumors is crucial in obtaining less toxic and more efficacious treatments. What is Known: • Pediatric Gliomas are the most common brain tumour in children. They are responsible for significant morbidity and mortality in this population. What is New: • Over the last two decades, there has been a significant increase in our global understanding of the molecular background of pediatric low and high grade gliomas. • The implementation of next generation sequencing techniques for these tumors is crucial in obtaining less toxic and more efficacious treatments, with the ultimate goal of improving both the survival and the quality of life of these patients.


Assuntos
Neoplasias Encefálicas , Glioma , Medicina de Precisão , Humanos , Glioma/genética , Glioma/terapia , Criança , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/terapia , Medicina de Precisão/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Gradação de Tumores
4.
Childs Nerv Syst ; 40(6): 1965-1969, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38478067

RESUMO

Pediatric intracranial sarcomas are rare, aggressive tumors with a poor prognosis in general. Here we report the case of a child who was initially diagnosed with a primary intracranial sarcoma, DICER1-mutant; subsequent genetic analyses confirmed a pathogenic germline DICER1 mutation. She received multimodal standard treatments consisting of surgery, radiotherapy and chemotherapy. The tumor recurred 2.5 years later within the surgical cavity. Following the gross tumor resection of this new lesion, the same multimodal standard approach was used. From a molecular perspective, evidence of hyperactivation of the MAPK-kinase pathway with a pathogenic KRAS mutation at both diagnosis and recurrence was present. The patient is currently in remission, 18 months post-end of treatment.


Assuntos
Neoplasias Encefálicas , RNA Helicases DEAD-box , Recidiva Local de Neoplasia , Ribonuclease III , Sarcoma , Humanos , Ribonuclease III/genética , RNA Helicases DEAD-box/genética , Feminino , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/diagnóstico por imagem , Recidiva Local de Neoplasia/genética , Sarcoma/genética , Mutação/genética , Criança
5.
Pediatr Emerg Care ; 38(1): 26-27, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-33048899

RESUMO

ABSTRACT: Intermittent claudication is very uncommon in children and adolescents. We describe the case of a 14-year-old adolescent girl experiencing left calf pain for a year that occurs during running and becomes unbearable after around 2 km. She was ultimately diagnosed with extrinsic compression of the popliteal artery caused by an osteocartilaginous exostosis (osteochondroma) originating from the fibula.


Assuntos
Neoplasias Ósseas , Osteocondroma , Adolescente , Criança , Feminino , Fíbula , Humanos , Claudicação Intermitente/etiologia , Artéria Poplítea
6.
Pediatr Blood Cancer ; 68(8): e29022, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33764675

RESUMO

OBJECTIVE: Disease spectrum in pediatric sarcoma differs substantially from adults. We report a cohort of very young children with non-rhabdomyosarcoma soft tissue sarcoma (NRSTS) detailing their molecular features, treatment, and outcome. METHODS: We report features of consecutive children (age <2 years) with NRSTS (2000-2017). Archival pathological material was re-reviewed, with additional molecular techniques applied where indicated. RESULTS: Twenty-nine patients (16 females, 55%) were identified (median age 6 months; range 0-23). Most common diagnoses included infantile fibrosarcoma (IFS, n = 14, 48%), malignant rhabdoid tumor (MRT, n = 4, 14%), and undifferentiated sarcoma (n = 4, 14%). Twenty-seven of 29 (93%) had tumor molecular characterization to confirm diagnosis. Clinical presentation included a swelling/mass (n = 23, 79%). Disease extent was localized (n = 20, 69%), locoregional (n = 6, 21%), or metastatic (n = 3, 10%). Seventeen of 29 (59%) who underwent surgery achieved complete resection (R0). Other treatments included conventional chemotherapy (n = 26, 90%), molecularly targeted therapies (n = 3, 10%), and radiation (n = 5, 17%). At last follow-up (median 3 years; range 0.3-16.4), 23 (79%) were alive, disease-free and six (21%) had died of disease. All patients with IFS were alive and all those with MRT died. A cancer predisposition syndrome (CPS) was confirmed in three of 10 (30%) genetically tested patients. CONCLUSION: We recommend tumor molecular characterization in all young patients including evaluation for CPS to optimize treatment options and prognostication.


Assuntos
Sarcoma , Neoplasias de Tecidos Moles , Intervalo Livre de Doença , Feminino , Fibrossarcoma/diagnóstico , Fibrossarcoma/terapia , Humanos , Lactente , Recém-Nascido , Masculino , Tumor Rabdoide/diagnóstico , Tumor Rabdoide/terapia , Sarcoma/diagnóstico , Sarcoma/terapia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/terapia
7.
J Pediatr Hematol Oncol ; 43(1): e115-e118, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-31415282

RESUMO

BACKGROUND: Primary presentation of Hodgkin lymphoma (HL) with bone and/or bone marrow involvement is a rare entity. Diagnostic criteria, treatment approaches, and follow-up strategies for these patients have not been standardized. OBSERVATION: We report a unique case of bone and bone marrow HL in an adolescent male without lymph node involvement. CONCLUSIONS: It is important to keep HL in the differential diagnosis of isolated and multifocal bone lesions. Evidence is needed to define the best management of these patients.


Assuntos
Neoplasias da Medula Óssea/patologia , Osso e Ossos/patologia , Doença de Hodgkin/patologia , Adolescente , Humanos , Masculino , Prognóstico
8.
J Neurooncol ; 149(1): 181-189, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32803658

RESUMO

PURPOSE: Primary benign and malignant central nervous system (CNS) tumors are the most frequent solid tumors in the pediatric age and represent the leading cause of death by cancer in children in high income countries. However, information regarding specific causes of death in this population is still limited. The objective of this work was to investigate mortality in a large cohort of children diagnosed at our institution. METHODS: We identified patients consecutively diagnosed with CNS tumor and treated at a Tertiary Care Canadian Children's Hospital between January 2000 and December 2017. Patient charts were reviewed and different variables such as tumor diagnosis, location, gender, age at diagnosis, age at death and cause of death collected. RESULTS: Of 1274 patients, 306 (24%) succumbed to their disease. Mortality rate varied significantly according to tumor subtype, ranging from 3.1% in low grade glioma (LGG) to 97.8% in diffuse intrinsic pontine glioma (DIPG). While high grade gliomas (HGG) and DIPG represented only 6.3 and 7.1% of total diagnoses respectively, together they accounted for 49.3% of total deaths (n = 151). Median time from diagnosis to death was 15 months (4 days to 15 years) and shortest for DIPG (11 months). Two hundred and ninety patients (94.8%) died as a result of the primary disease, 4 of treatment-related toxicity, two patients' deaths were unrelated to the primary disease (idiopathic encephalopathy and domestic fire) whereas 10 patients succumbed to a secondary malignancy. Of note, four of these ten patients had a confirmed underlying cancer predisposition syndrome. CONCLUSION: Disease progression is the main cause of death in children with brain tumor, while treatment related mortality is low in this series. Research should continue to focus on improving treatment strategies for patients whose prognosis remains dismal.


Assuntos
Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/patologia , Causas de Morte/tendências , Adolescente , Neoplasias Encefálicas/classificação , Criança , Pré-Escolar , Progressão da Doença , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de Tempo
9.
Pediatr Blood Cancer ; 67(5): e28228, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32124552

RESUMO

Seventeen children at six institutions with neurofibromatosis type 2 (NF2)-related vestibular schwannomas received bevacizumab. Eight of the 13 patients with initial hearing loss (61%) showed objective hearing improvement within six months of treatment. No patients showed hearing deterioration during therapy; however, only two patients showed objective radiological response. Seven of eight patients had tumor progression or worsening hearing loss upon cessation of treatment. Bevacizumab was well tolerated with no patients discontinuing therapy. Bevacizumab appears to postpone hearing loss in childhood NF2-associated vestibular schwannomas, but responses are not durable, suggesting that either longer maintenance therapy or new strategies are required.


Assuntos
Bevacizumab/administração & dosagem , Neurofibromina 2/metabolismo , Neuroma Acústico/tratamento farmacológico , Neuroma Acústico/metabolismo , Adolescente , Criança , Feminino , Humanos , Masculino , Neuroma Acústico/patologia , Neuroma Acústico/fisiopatologia
10.
J Pediatr Hematol Oncol ; 42(1): 74-78, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-30044355

RESUMO

Kaposiform hemangioendothelioma (KHE) is a rare infiltrative vascular tumor that may be associated with Kasabach-Merritt Phenomenon (KMP), which is a consumptive coagulopathy with potentially life-threatening thrombocytopenia. Management of KHE and KMP is challenging, and currently, there are no standardized validated treatment protocols. Mammalian target of rapamycin inhibitors have been shown to be effective in the treatment of KHE. We describe a term male who presented as a diagnostic dilemma with life-threatening pleural and pericardial effusions and severe thrombocytopenia. After extensive work-up the etiology for his condition was determined to be KHE with KMP. The patient was commenced on sirolimus and responded well to therapy with resolution of KMP.


Assuntos
Hemangioendotelioma/tratamento farmacológico , Síndrome de Kasabach-Merritt/tratamento farmacológico , Derrame Pericárdico/tratamento farmacológico , Derrame Pleural Maligno/tratamento farmacológico , Sarcoma de Kaposi/tratamento farmacológico , Sirolimo/administração & dosagem , Hemangioendotelioma/diagnóstico , Humanos , Recém-Nascido , Síndrome de Kasabach-Merritt/diagnóstico , Masculino , Derrame Pericárdico/diagnóstico , Derrame Pleural Maligno/diagnóstico , Sarcoma de Kaposi/diagnóstico
11.
Eur J Pediatr ; 179(5): 689-697, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32162064

RESUMO

Primary immunodeficiency disorders represent a heterogeneous spectrum of diseases, predisposing to recurrent infections, allergy, and autoimmunity. While an association between primary immunodeficiency disorders and increased risk of cancer has been suggested since the 1970s, renewed attention has been given to this topic in the last decade, largely in light of the availability of large registries as well as advances in next generation sequencing. In this narrative review, we will give an insight of the primary immunodeficiencies that are commonly responsible for the greater number of cancers in the primary immunodeficiency disorders population. We will describe clinical presentations, underlying genetic lesions (if known), molecular mechanisms for carcinogenesis, as well as some management considerations. We will also comment on the future directions and challenges related to this topic.Conclusion: The awareness of the association between several primary immunodeficiencies and cancer is crucial to provide the best care for these patients.What is Known: • Patients with primary immunodeficiency have an increased risk of malignancy. The type of malignancy is highly dependent on the specific primary immunodeficiency disorder.What is New: • Survival in patients with primary immunodeficiency disorders has been improving, and conversely also their lifetime risk of malignancy. • International collaboration and multinational registries are needed to improve our knowledge and therapeutic strategies.


Assuntos
Neoplasias/etiologia , Doenças da Imunodeficiência Primária/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Neoplasias/genética , Doenças da Imunodeficiência Primária/genética , Sistema de Registros , Medição de Risco
12.
J Cell Physiol ; 234(6): 7999-8007, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30257034

RESUMO

Ewing-like sarcomas are an emerging subgroup of small round blue cell sarcomas that share various degrees of morphological, immunohistochemical, molecular, and clinical similarity with Ewing sarcoma. Despite these similarities, Ewing-like sarcomas lack the pathognomonic molecular hallmark of Ewing sarcoma: A translocation between a gene of the RNA-binding TET family (EWSR1 or FUS) with a gene of the ETS-transcription family ( FLI1, ERG, ETV1, ETV4, or FEV). Recently, increased use of modern molecular methods based on next-generation sequencing have enabled the identification of distinct subgroups within this previously uncharacterized group of Ewing-like sarcomas based on the discovery of novel molecular driving events. The focus of this review is to provide an update on the main subcategories of Ewing-like sarcomas discovered to date: CIC-rearranged sarcomas, BCOR-rearranged sarcomas, sarcomas with a rearrangement between EWSR1 and a non-ETS family gene, and the substantial fraction of tumors which remain uncharacterized by molecular methods. There is increasing evidence that these tumors represent stand-alone entities with unique characteristics rather than simply a subgroup of Ewing sarcoma; thus, the question of the best therapeutic approach for these often aggressive sarcomas remains of primary importance. Ultimately, large collaborative efforts will be necessary to better determine the characteristics of this rare, heterogeneous family of tumors.


Assuntos
Proteínas Proto-Oncogênicas/genética , Proteína EWS de Ligação a RNA/genética , Proteínas Repressoras/genética , Sarcoma de Ewing/genética , Sarcoma de Células Pequenas/genética , Biomarcadores Tumorais/genética , Rearranjo Gênico/genética , Humanos , Proteínas de Fusão Oncogênica/genética , Proteínas de Ligação a RNA/genética , Sarcoma de Ewing/classificação , Sarcoma de Ewing/patologia , Sarcoma de Células Pequenas/classificação , Sarcoma de Células Pequenas/patologia
13.
Pediatr Transplant ; 23(1): e13319, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30417487

RESUMO

EBV-related PTLD developing after HSCT is a potentially life-threatening disease. HLH is uncommon after allogeneic HSCT. Data on outcome of patients with PTLD and concomitant HLH after allogeneic HSCT are limited. In this retrospective study, we collected demographic, clinical, laboratory, and outcome data for 408 patients who underwent allogeneic HSCT from 2006 to 2015. Graft source included CB (n = 135; 33.1%), PBSCs (n = 34; 8.3%), and BM (n = 239; 58.6%). Eight out of 408 patients (2%) developed EBV-PTLD with a median age at HSCT of 5.9 years (range: 2.3-17.3). All eight patients received ATG as part of the conditioning regimen. Graft source was PBSC in three patients (37.5%), BM in four patients (50%), and CB in one patient (12.5%). Donors were matched unrelated in five patients (62.5%) and matched sibling in three patients (37.5%). Seven out of eight patients developed EBV-PTLD within the first 100-day post-HSCT. Lymph node biopsy revealed early lesions in three patients, polymorphic in three patients, and monomorphic PTLD in two patients. Three patients (37.5%) died within 1 month of EBV-PTLD diagnosis. All deceased patients developed HLH manifestations with two of them meeting HLH diagnostic criteria and one having an incomplete workup. PTLD after allogeneic HSCT with manifestations of HLH is associated with high mortality. Early identification and treatment of EBV-PTLD seems imperative to control the disease, especially if signs of HLH are evolving.


Assuntos
Infecções por Vírus Epstein-Barr/diagnóstico , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Transtornos Linfoproliferativos/diagnóstico , Adolescente , Criança , Pré-Escolar , Infecções por Vírus Epstein-Barr/epidemiologia , Infecções por Vírus Epstein-Barr/etiologia , Feminino , Transplante de Células-Tronco Hematopoéticas/mortalidade , Humanos , Incidência , Lactente , Linfo-Histiocitose Hemofagocítica/epidemiologia , Linfo-Histiocitose Hemofagocítica/etiologia , Transtornos Linfoproliferativos/epidemiologia , Transtornos Linfoproliferativos/etiologia , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida
14.
Pediatr Transplant ; 23(8): e13574, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31496046

RESUMO

EBV-associated PTLD following allogeneic HSCT is a serious complication associated with significant mortality. In this retrospective study, we evaluated whether lymphocyte subset numbers and CD8:CD20 ratio at time of EBV viremia in children undergoing allogeneic HSCT could predict development of PTLD. Absolute lymphocyte count, lymphocyte subsets, and CD8:CD20 ratio at the time of EBV viremia were analyzed. Patients who were treated preemptively with rituximab for high blood EBV viral load were excluded. Out of 266 patients transplanted during the study period, 26 patients were included in the analysis. Patients were divided into two cohorts; cohort 1 included patients with EBV-associated PTLD (n = 5; four with proven, one with probable PTLD). Cohort 2 included patients with EBV viremia without PTLD (n = 21). Lymphocyte recovery was slower in the PTLD group. CD8:CD20 ratio was significantly lower in the PTLD group (median 0.15) compared to the non-PTLD group (median 2.4, P = .012). Using the ROC curve and 1 as the cutoff value, CD8:CD20 ratios were analyzed. In the PTLD group, 4/5 patients (80%) had a ratio <1 whereas in the non-PTLD group, all 21 patients had a ratio >1. Sensitivity and specificity were 80% and 100%, respectively. Negative and PPVs were 95% and 100%, respectively. Profoundly low T-cell count and CD8:CD20 ratio may be used to predict development of PTLD in the context of EBV viremia in children post-allogeneic HSCT. Further studies are needed to validate this finding.


Assuntos
Antígenos CD20/imunologia , Linfócitos T CD8-Positivos/imunologia , Infecções por Vírus Epstein-Barr/sangue , Transplante de Células-Tronco Hematopoéticas , Transtornos Linfoproliferativos/sangue , Transtornos Linfoproliferativos/virologia , Complicações Pós-Operatórias/sangue , Complicações Pós-Operatórias/virologia , Viremia/sangue , Viremia/virologia , Adolescente , Aloenxertos , Criança , Pré-Escolar , Infecções por Vírus Epstein-Barr/imunologia , Humanos , Contagem de Linfócitos , Subpopulações de Linfócitos , Transtornos Linfoproliferativos/imunologia , Complicações Pós-Operatórias/imunologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Linfócitos T/imunologia , Viremia/imunologia
15.
J Pediatr Hematol Oncol ; 41(5): 388-391, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31094905

RESUMO

Congenital neuroblastoma with placental involvement is exceptionally rare, but mortality is high. Detailed examination of placenta including MYCN amplification and segmental chromosomal aberrations should be performed in all suspected cases, as it is noninvasive and readily available. Maternal dissemination has not been reported. In this manuscript, we describe an infant with placental diagnosis of MYCN nonamplified congenital neuroblastoma. This is the first report of a recurrence of congenital 4S neuroblastoma following resolution in which MYCN amplification is only detected in the recurrence. Germline sequencing using a large comprehensive cancer panel did not reveal variants in candidate cancer predisposition genes.


Assuntos
Proteína Proto-Oncogênica N-Myc/genética , Neuroblastoma/genética , Adulto , Aberrações Cromossômicas , Feminino , Amplificação de Genes , Humanos , Lactente , Neuroblastoma/congênito , Neuroblastoma/patologia , Doenças Placentárias , Gravidez , Recidiva
16.
Pediatr Hematol Oncol ; 36(3): 161-172, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31037986

RESUMO

Human adenovirus (HAdV) is recognized as a serious pathogen after allogeneic hematopoietic stem cell transplantation (HSCT), causing morbidity and mortality. Currently, there is no universal agreement regarding routine HAdV surveillance after HSCT. We assessed the impact of HAdV weekly monitoring by polymerase chain reaction (PCR) on HAdV viremia rates and the risk factors that influence survival. Three-hundred and fifty-six pediatric allogeneic HSCT were done between 2007 and 2015. Until July 2011, HAdV testing was performed based on clinical suspicion (cohort 1, n = 175) and from August 2011, weekly blood-HAdV monitoring was done (cohort 2, n = 181) until day +100. Twenty-three patients (4 [2.3%] from cohort 1 and 19 [10.5%] from cohort 2, p = .001) were found with HAdV viremia and seven of them died. Both cohorts had a similar incidence of HAdV-associated mortality (3/175; 1.7% in cohort 1 and 4/181; 2.2% in cohort 2). Respiratory failure was the cause of death in all patients. Clinical symptoms appeared prior to or within 5 days of HAdV detection in cohort 2. In summary, weekly monitoring was associated with higher detection of HAdV. The study could not assess survival benefit due to small numbers of HAdV-positive cases. In many instances, symptoms occurred with the development of positive HAdV blood PCR results and hence, symptomatology could have triggered the test. Future studies are needed to provide data that help establishing a uniform approach for regular monitoring of HAdV post-transplant.


Assuntos
Infecções por Adenoviridae , Adenovírus Humanos , DNA Viral , Neoplasias Hematológicas , Transplante de Células-Tronco Hematopoéticas , Infecções por Adenoviridae/sangue , Infecções por Adenoviridae/genética , Infecções por Adenoviridae/mortalidade , Adenovírus Humanos/genética , Adenovírus Humanos/metabolismo , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , DNA Viral/sangue , DNA Viral/genética , Feminino , Neoplasias Hematológicas/sangue , Neoplasias Hematológicas/genética , Neoplasias Hematológicas/mortalidade , Neoplasias Hematológicas/terapia , Humanos , Lactente , Masculino , Fatores de Risco , Viremia/sangue , Viremia/genética , Viremia/mortalidade
17.
J Pediatr Hematol Oncol ; 40(6): e392-e393, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-28902079

RESUMO

BACKGROUND: Methotrexate (MTX) is a commonly used agent in the treatment of oncology patients whose clearance depends on renal health maintaining glomerular filtration and tubular secretion. Thus concomitant use of other drugs that utilize the same mechanism of clearance are generally avoided as this may contribute to increased MTX-associated toxicity. OBSERVATION: Herein, we describe the use of low-dose aspirin with high-dose MTX in a patient with osteosarcoma. CONCLUSION: Concomitant aspirin use did not affect the clearance of high-dose MTX and the patient did not experience any MTX-related toxicity including mucositis or renal impairment.


Assuntos
Aspirina , Neoplasias Ósseas , Metotrexato , Osteossarcoma , Aspirina/administração & dosagem , Aspirina/farmacocinética , Neoplasias Ósseas/tratamento farmacológico , Neoplasias Ósseas/metabolismo , Criança , Taxa de Filtração Glomerular/efeitos dos fármacos , Humanos , Masculino , Metotrexato/administração & dosagem , Metotrexato/farmacocinética , Osteossarcoma/tratamento farmacológico , Osteossarcoma/metabolismo
18.
Pediatr Hematol Oncol ; 35(7-8): 407-414, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30806137

RESUMO

Rhabdomyosarcoma (RMS) represents the most common soft tissue sarcoma in the pediatric age group. While RMS has been traditionally classified on the basis of its histological appearance (with embryonal and alveolar being most common), it is now clear that the PAX-FOXO1 fusion product drives prognosis. We report here a case of pelvic embryonal RMS in a 3-month-old male who was subsequently found to have developed brain metastases during the course of chemotherapy. Cytogenetic analysis of the brain metastases at the time of autopsy as well as next-generation sequencing analysis revealed a reciprocal translocation involving the SH3 domain containing ring finger 3 gene (SH3RF3, on chromosome 2q13) and the Lipase C gene (LIPC, on chromosome 15q21.3). Due to the poor quality of the pretreatment and postresection samples, cytogenetics and NGS analysis looking for the presence of this balanced translocation in these specimens could not be performed. To the authors' knowledge, this translocation has never been described in RMS. Further studies are needed to determine the biological and clinical implications of this novel translocation.


Assuntos
Cromossomos Humanos Par 15/genética , Cromossomos Humanos Par 2/genética , Rabdomiossarcoma Embrionário/genética , Translocação Genética , Proteína Forkhead Box O1/genética , Humanos , Lactente , Lipase/genética , Masculino , Proteínas de Fusão Oncogênica/genética , Fatores de Transcrição Box Pareados/genética , Rabdomiossarcoma Embrionário/patologia , Ubiquitina-Proteína Ligases/genética
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