ALESSANDRA MILANI PRANDINI DE AZAMBUJA

Índice h a partir de 2011
3
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Câncer do Estado de São Paulo, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina

Resultados de Busca

Agora exibindo 1 - 10 de 16
  • article 2 Citação(ões) na Scopus
    Involvement of the central nervous system in neuroblastomas: A potential direct pathway
    (2020) ODONE-FILHO, Vicente; CRISTOFANI, Lilian Maria; MALUF, Paulo Taufi; ALMEIDA, Maria Tereza Assis; HALLEY, Nathalia; VINCE, Carolina Sgarioni Camargo; AZAMBUJA, Alessandra Milani Prandini de; BRUMATTI, Melina; LUBRAICO, Priscilla; LOPES, Luiz Heraldo Arouche da Camara; LEITE, Katia Ramos Moreira; SILVA, Joao Luis Fernandes; PLESE, Jose Pindaro Pereira; WELTMAN, Eduardo
    Although frequently disseminated to other anatomical sites, neuroblastoma (NB) is rarely reported as involving the central nervous system (CNS), which may reflect insufficient research in poorly controlled systemic disease. Here we demonstrate the involvement of the CNS in patients with NB over 18 months of age at diagnosis of extensive systemic disease. Meningeal metastases were observed even in the presence of complete systemic control. Although no improvement in patient's survival was observed, radiotherapy was effective in preventing CNS recurrence after observation of actual or previous dural disease. In conclusion, this study uncovered the uncommon pathologic involvement of the CNS in children with advanced NB and underscores the meningeal surface as a potential pathway for this to occur.
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    ATYPICAL TERATOID RHABDOID TUMORS (ATRT): RESULTS FROM A SINGLE INSTITUTION IN BRAZIL - SAO PAULO UNIVERSITY
    (2022) BARRETO, Juliana Silveira; GOMEZ, Karen Nirit Melo; DUTRA, Alvaro Pimenta; AZAMBUJA, Alessandra Milani Prandini De; CRISTOFANI, Lilian Maria; SANDERS, Felipe Hada; PETITO, Carlo; BARALDI, Helena Espindola; WELTMAN, Eduardo; FERRACIOLLI, Suely Fazio; FRASSETTO, Fernando Pereira; LUCATO, Leandro Tavares; ROSEMBERG, Sergio; ODONE FILHO, Vicente
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    FEASIBILITY OF THERAPEUTIC I131 METAIODOBENZYLGUANIDINE (MIBG) PREVIOUS TO BLOOD STEM CELL COLLECTION AS ""PURGING IN VIVO"" FOR HIGH-RISK NEUROBLASTOMAS (HRNB)
    (2014) ODONE-FILHO, V.; ALMEIDA, M. T. A.; BUCHPIGEL, C.; AZAMBUJA, A. M. P.; VINCE, C. S. C.; BRUMATTI, M.; NEVES, N. S. H.; BATISTA, G. L. F.; MALUF JR., P. T.; CRISTOFANI, L. M. C.
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    HIGH-GRADE NEUROEPITHELIAL TUMOR (HGNET) IN A PEDIATRIC CASE-SERIES
    (2020) SANDERS, Felipe Hada; AZAMBUJA, Alessandra; FRASSETO, Fernando; ROSEMBERG, Sergio; MATUSHITA, Hamilton
  • article 3 Citação(ões) na Scopus
    An unusual abdominal wall mass in a child
    (2017) SOUZA, Amalia Maria do Espirito Santo; BARBUTO, Tomas Marzagao; FREITAS, Flavia Alessandra; VIANNA, Nathalia Fernandes; ZANCHETTA, Carla Maria Costa; FORSAIT, Silvana; BORBA, Claudio; AZAMBUJA, Alessandra Milani Prandini de; CRISTOFANI, Lilian Maria; ODONE FILHO, Vicente
    Abdominal tumors are one of the most common types of pediatric cancer. Therefore, they should always be included in the differential diagnosis of abdominal masses. Here, we present the case of a child whose initial hypothesis of diagnosis contemplated this possibility. Later, it was demonstrated that the abdominal mass found was secondary to a common parasitosis. A 2-year old, moderately malnourished and pale white boy was referred with a history of a rapidly growing, well-limited, middle abdominal mass. The mass was 10 by 3 cm, hard and poorly movable, apparently involving both abdominal rectus muscles. A complete resection was performed, revealing an abdominal wall abscess, with intense eosinophilic proliferation, secondary to a local and intense reaction to innumerous Ascaris lumbricoides eggs. Extra luminal infestations with Ascaris, that usually form peritoneal granulomas have been previously described. However, neither external trauma nor fistula, that could explain the superficial presence of the eggs, was found. This description reinforces the relevance of infectious diseases within the differential diagnosis of abdominal masses, particularly in areas with high prevalence of parasitic infestations.
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    Relapsed Acute Lymphoblastic Leukemia and Blinatumomab: Results From a Single Institution in Brazil Universidade de Sao Paulo
    (2020) ZAMPERLINI-NETTO, G.; FONSECA, M.; ALMEIDA, M.; ODONE-FILHO, V.; TEIXEIRA, R.; FERNANDES, J.; AZAMBUJA, A.; DUTRA, A.; BREVIGLIERI, C.; CRISTOFANI, L.
  • article 13 Citação(ões) na Scopus
    Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation
    (2018) FERNANDES, Juliana Folloni; BONFIM, Carmem; KERBAUY, Fabio Rodrigues; RODRIGUES, Morgani; ESTEVES, Iracema; SILVA, Nathalia Halley; AZAMBUJA, Alessandra Prandini; MANTOVANI, Luiz Fernando; KUTNER, Jose Mauro; LOTH, Gisele; KUWAHARA, Cilmara Cristina; BUENO, Clarissa; KONDO, Andrea Tiemi; RIBEIRO, Andreza Alice Feitosa; KOK, Fernando; HAMERSCHLAK, Nelson
    Allogeneic hematopoietic stem cell transplantation (HSCT) is the only treatment that enhances survival and stabilizes neurologic symptoms in X-linked adrenoleukodystrophy (X-ALD) with cerebral involvement, a severe demyelinating disease of childhood. Patients with X-ALD who lack a well-matched HLA donor need a rapid alternative. Haploidentical HSCT using post transplant cyclophosphamide (PT/Cy) has been performed in patients with malignant and nonmalignant diseases showing similar outcomes compared to other alternative sources. We describe the outcomes of transplants performed for nine X-ALD patients using haploidentical donors and PT/Cy. Patients received conditioning regimen with fludarabine 150 mg/m(2) , cyclophosphamide 29 mg/kg and 2 Gy total body irradiation (TBI) with or without antithymocyte globulin. Graft-vs.-host disease prophylaxis consisted of cyclophosphamide 50 mg/kg/day on days +3 and +4, tacrolimus or cyclosporine A and mycophenolate mofetil. One patient had a primary graft failure and was not eligible for a second transplant. Three patients had secondary graft failure and were successfully rescued with second haploidentical transplants. Trying to improve engraftment, conditioning regimen was changed, substituting 2 Gy TBI for 4 Gy total lymphoid irradiation. Eight patients are alive and engrafted (17-37 months after transplant). Haploidentical HSCT with PT/Cy is a feasible alternative for X-ALD patients lacking a suitable matched donor. Graft failure has to be addressed in further studies.
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    DIFFUSE LEPTOMENINGEAL DISSEMINATED GLIONEURONAL TUMOR: CASE-SERIES
    (2020) SANDERS, Felipe Hada; MATUSHITA, Hamilton; AZAMBUJA, Alessandra; FRASSETO, Fernando; ROSEMBERG, Sergio; ODONE, Vicente; TEIXEIRA, Manoel Jacobsen
  • article 10 Citação(ões) na Scopus
    BLM germline and somatic PKMYT1 and AHCY mutations: Genetic variations beyond MYCN and prognosis in neuroblastoma
    (2016) NOVAK, E. M.; HALLEY, N. S.; GIMENEZ, T. M.; RANGEL-SANTOS, A.; AZAMBUJA, A. M. P.; BRUMATTI, M.; PEREIRA, P. L.; VINCE, C. S. C.; GIORGI, R. R.; BENDITE, I.; CRISTOFANI, L. M.; ODONE-FILHO, V.
    Neuroblastoma (NB) is the most common extra cranial solid tumor of childhood and often lethal in childhood. Clinical and biologic characteristics that are independently prognostic of outcome in NB are currently used for risk stratification to optimally the therapy. It includes age at diagnosis, International Neuroblastoma Staging System tumor histopathology and MYCN amplification. However, even in patients with theoretically good prognosis, such as localized tumor and non amplified MYCN, either disease progress or recurrence may occur. Potential genetic determinants of this unfavorable behavior are not yet fully clarified. The presence of elevated expression of AHCY, PKMYT1, and BLM has accompanied poor prognosis MYCN-amplified neuroblastoma patients. Considering the potential implication of these genes on the clinical management of NB, we hypothesize that the identification-of genetic variations may have significant impact during development of the recurrent or progressive disease. Using targeted DNA sequencing, we analyzed the mutation profiles of the genes PKMYT1, AHCY, and BLM in tumor samples of five patients with MYCN amplified and 15 MYCN non-amplified NB. In our study, BLM germline variants were detected in two patients with MYCN-non-amplified neuroblastoma. Our data allow us to hypothesize that, regardless of MYCN status, these mutations partially abolish BLM protein activity by impairing its ATPase and helicase activities. BLM mutations are also clinically relevant because BLM plays an important role in DNA damage repair and the maintenance of genomic integrity. We also found a novel variant in our cohort, PKMYT1 mutation localized in the C-terminal domain with effect unknown on NB. We hypothesize that this variant may affect the catalytic activity of PKMYT1 in NB, specifically when CDK1 is complexed to cyclins. The prognostic value of this mutation must be further investigated. Another mutation identified was a nonsynonymous variant in AHCY. This variant may be related to the slow progression of the disease, even in more aggressive cases. It affects the maintenance of the catalytic capacity of AHCY, leading to the consequent functional effects observed in the NB patients studied. In conclusion, our hypothesis may provide that mutations in BLM, AHCY and PKMYT1 genes found in children with MYCN-amplified or MYCN-non amplified neuroblastomas, may be associated with the prognosis of the disease.
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    PERIPHERAL PRECOCIOUS PUBERTY DUE TO A HCG-SECRETING TERATOMA IN PINEAL GLAND SITE: CHALLENGES IN THE DIAGNOSIS AND THERAPEUTIC MANAGEMENT
    (2023) BRITO, V; SANDERS, F. H.; SOUZA, V. C. M.; BOGER, B. S.; CRISTOFANI, L. M.; AZAMBUJA, A. P.; CANTON, A. P. M.; MENDONCA, B. B.; LATRONICO, A. C.