ELVIRA DEOLINDA RODRIGUES PEREIRA VELLOSO
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/31 - Laboratório de Genética e Hematologia Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/31 - Laboratório de Genética e Hematologia Molecular, Hospital das Clínicas, Faculdade de Medicina
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- Part 5: Myelodysplastic syndromes—Treatment of high-risk disease(2018) MAGALHÃES, Silvia Maria Meira; CHAUFFAILLE, Maria de Lourdes Lopes Ferrari; VELLOSO, Elvira Deolinda Rodrigues Pereira; BUZZINI, Renata; BERNARDO, Wanderley Marques
- Part 3: Myelodysplastic syndromes—Treatment of low-risk patients without the 5q deletion(2018) VELLOSO, Elvira Deolinda Rodrigues Pereira; MAGALHÃES, Silvia Maria Meira; CHAUFFAILLE, Maria de Lourdes Lopes Ferrari; BUZZINI, Renata; BERNARDO, Wanderley Marques
- WHO-2016 Classification in ALL By Cytogenetics, FISH and Molecular Biology - Experience of Two Reference Centers in Brazil(2018) VELLOSO, Elvira D. R. P.; CORDEIRO, Maria Gabriella; LUCON, Danielle; KISHIMOTO, Renata; LEAL, Aline Medeiros; MAIA, Ana Carolina Arrais; BUCCHERI, Valeria; BENDIT, Israel; SILVA JR., Wellington Fernandes; MANGUEIRA, Cristovao; REGO, Eduardo Magalhaes; ROCHA, Vanderson
- Treating Adult Acute Lymphoblastic Leukemia in Brazil-Increased Early Mortality Using a German Multicenter Acute Lymphoblastic Leukemia-based regimen(2018) SILVA JUNIOR, Wellington Fernandes da; MEDINA, Andrezza Bertolaci; YAMAKAWA, Patricia Eiko; BUCCHERI, Valeria; VELLOSO, Elvira D. R. P.; ROCHA, VandersonStudying adult acute lymphoblastic leukemia (ALL) in developing countries is essential, because few reports are available. We performed a retrospective medical record review of the adapted German Multicenter ALL regimen encompassing 59 patients treated in Brazil. A disappointing long-term survival rate of 15.3% was found, demonstrating that every regimen must be adjusted to a given population to avoid unacceptable toxicity. Background: Acute lymphoblastic leukemia (ALL) in adults is an invariably aggressive and rare disease. Its treatment is based on the use of multidrug regimens, which have been improved since the 1970s. Few published data are available on the results of adult ALL treatment in Latin America. Materials and Methods: We retrospectively analyzed the data from 59 patients with ALL treated from 2009 to 2015 at Hospital of Clinics of University of Sao Paulo, using an adapted German Multicenter ALL (GMALL) protocol (07/2003). Results: The median patient age was 35 years (range, 16-71 years), with 76% of new cases of B-cell lineage. Central nervous system involvement was present in 29%. Most patients were in the high-risk group, using the original GMALL criteria (68%). The early death rate was 17%, preventing early evaluation of the response in these patients. Despite a reasonable complete remission rate (76%), most patients eventually died of sepsis, especially during the induction phase and salvage regimens. The median overall survival was 17 months. Conclusion: Intensified chemotherapy protocols for adult ALL have succeeded in achieving better survival rates in adults, especially younger adults. The low overall survival found with GMALL in Brazil's public hospital denotes the importance of optimizing the adaptations of international protocols for treatment of ALL in nondeveloped countries and, in parallel, improving supportive care in public services.
- Guidelines on myelodysplastic syndromes: Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular(2018) MAGALHÃES, Silvia Maria Meira; NIERO-MELO, Lígia; CHAUFFAILLE, Maria de Lourdes Lopes Ferrari; VELLOSO, Elvira Deolinda Rodrigues Pereira; LORAND-METZE, Irene; BUZZINI, Renata; BERNARDO, Wanderley Marques
- Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients(2018) FREIRE, Bruna L.; HOMMA, Thais K.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; LEAL, Aline M.; VELLOSO, Elvira D. R. P.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L.Background: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. Clinical report: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features. Her parents were third degree cousins. Routine screening tests for short stature was normal. Methods: We conducted whole exome sequencing (WES) of the proband and used an analysis pipeline to identify rare nonsynonymous genetic variants that cause short stature. Results: We identified a homozygous loss-of-function BRCA1 mutation (c.2709T > A; p. Cys903*), which promotes the loss of critical domains of the protein. Cytogenetic study with DEB showed an increased chromosomal breakage. We screened heterozygous parents of the index case for cancer and we detected, in her mother, a metastatic adenocarcinoma in an axillar lymph node with probable primary site in the breast. Conclusion: It is possible to consolidate the FA-like phenotype associated with biallelic loss-of-function BRCA1, characterized by microcephaly, short stature, developmental delay, dysmorphic face features and cancer predisposition. In our case, the WES allowed to establish the genetic cause of short stature in the context of a chromosome instability syndrome. An identification of BRCA1 mutations in our patient allowed precise genetic counseling and also triggered cancer screening for the patient and her family members.
- Part 4: Myelodysplastic syndromes—Treatment of low-risk patients with the 5q deletion(2018) MAGALHÃES, Silvia Maria Meira; VELLOSO, Elvira Deolinda Rodrigues Pereira; BUZZINI, Renata; BERNARDO, Wanderley Marques
- Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia(2018) SILVA, Marcela Cavalcante de Andrade; KREPISCHI, Ana Cristina Victorino; KULIKOWSKI, Leslie Domenici; ZANARDO, Evelin Aline; NARDINELLI, Luciana; LEAL, Aline Medeiros; COSTA, Silvia Souza; MUTO, Nair Hideki; ROCHA, Vanderson; VELLOSO, Elvira Deolinda Rodrigues PereiraFamilial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding. A microdeletion encompassing exons 1-2 of RUNX1 (outside the cluster region of the Runt Homology domain and the transactivation domain) was detected in six family members using array-CGH and MLPA validation. A low platelet count was not present in all deletion carriers and, therefore, it should not be used as an indication for screening in suspected families and family members.