All publications of “Paulo Vidal Campregher”

4 results

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome

Roberta Cardoso Petroni, Susana Elaine Alves da Rosa, Flavia Pereira de Carvalho, Rúbia Anita Ferraz Santana, Joyce Esteves Hyppolito, Claudia Mac Donald Bley Nascimento, [...]

DOI: 10.1590/S1679-45082017RC4006

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5’UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. The first cases were described in 1995 and several mutations have already been identified. However, this […]

Successful treatment of post-transplant relapsed acute myeloid leukemia with FLT3 internal tandem duplication using the combination of induction chemotherapy, donor lymphocyte infusion, sorafenib and azacitidine. Report of three cases

Paulo Vidal Campregher, Vinicius Renan Pinto de Mattos, Marco Aurélio Salvino, Fabio Pires de Souza Santos, Nelson Hamerschlak

DOI: 10.1590/S1679-45082017RC3784

ABSTRACT Acute myeloid leukemia is a hematopoietic stem cell neoplastic disease associated with high morbidity and mortality. The presence of FLT3 internal tandem duplication mutations leads to high rates of relapse and decreased overall survival. Patients with FLT3 internal tandem duplication are normally treated with hematopoietic stem cell transplantation in first complete remission. Nevertheless, the incidence of post-transplant relapse is considerable in this group of patients, and the management of this clinical condition is challenging. The report describes the outcomes […]

The detection of KIT mutations in acute myeloid leukemia

Luis Eduardo Silva Machado, João Renato Rebello Pinho, Roberta Sitnik, Nair Hideko Muto, Elvira Deolinda Rodrigues Pereira Velloso, Roberta Cardoso Petroni, [...]

DOI: 10.1590/S1679-45082012000300005

Objective:This study describes a new method used in the clinical laboratory at Hospital Israelita Albert Einstein to detect mutations in exons 8 and 17 of the KIT gene in patients with acute myeloid leukemia.METHODS:Genomic DNA extraction was performed on 54 samples of peripheral blood or bone marrow from patients with acute myeloid leukemia. The extracted DNA was amplified by polymerase chain reaction and sequenced, and the fragments were analyzed.RESULTS:Within the analyzed samples, we detected four mutations in exon 8, two […]