Introduction: Identifying carriers of genetic mutations that increase the risk of developing cancer allows to adopt timely risk-reducing strategies. However, due to the elevated cost of genetic testing, few oncogenetics services are available in the Brazilian public health care system, especially in economically disadvantaged areas.
Objective: To describe the implementation of an oncogenetics service for patients suspected of hereditary cancer syndromes (HBOC and HNPCC) at a philanthropic referral oncology hospital in Northeastern Brazil, funded by the Ministry of Health's National Oncology Care Support Program (PRONON).
Methods: The service was implemented with the PDCA method (Plan, Do, Check and Act).
Results: During the first year of operation (starting in August 2018), 675 individuals were examined, of whom 272 patients and 98 family members were submitted to genetic testing. This included the collection of 338 DNA samples of which 300 were sequenced. The analysis identified 48 (17.1%) mutations for HBOC and 19 (6.8%) for HNPCC.
Conclusion: In one year, the oncogenetics service was able to benefit over 300 families by generating advanced molecular data which may be used for tailoring cancer prevention and management.
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http://dx.doi.org/10.1016/j.cancergen.2020.11.002 | DOI Listing |
Genet Med Open
July 2024
Hospital General de Mexico Dr. Eduardo Liceaga, Mexico City, Mexico.
Purpose: The purpose of this manuscript is to show the process of the establishment and adaptation of an oncogenetics program in Mexico.
Methods: The oncogentics program at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán was established as a traditional in-person service and adapted to include telemedicine counseling to expand services to other hospitals and persists as a mixed counseling model with research/commercial genetic testing.
Results: A total of 2222 participants were included with a median age of 47 years and 77.
Cureus
November 2024
Hematology, Faculty of Medicine, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, MAR.
Diffuse large B-cell lymphoma (DLBCL) is a rare and aggressive form of non-Hodgkin lymphoma (NHL) that can occur in the breast. This case report details the case of a 48-year-old postmenopausal woman diagnosed with primary breast DLBCL after presenting with a painless, rapidly growing mass. Imaging studies, including ultrasound and mammography, indicated significant breast involvement, confirmed by histopathological analysis revealing large atypical lymphoid cells.
View Article and Find Full Text PDFNeuropathol Appl Neurobiol
December 2024
Neuroradiological RENOCLIP-LOC network: A. Bani-Sadr (Lyon), J.M. Constans (Amiens), D. Galanaud (Paris), R. Guillevin (Poitiers), N. Menjot (Montpellier), S. Grand (Grenoble), F.D. Ardelier (Strasbourg), E. Schmitt (Nancy), B. Testud (Marseille), L. Mondot (Nice).
Aims: FGFR-fused central nervous system (CNS) tumours are rare and are usually within the glioneuronal and neuronal tumours or the paediatric-type diffuse low-grade glioma spectrum. Among this spectrum, FGFR2 fusion has been documented in tumours classified by DNA-methylation profiling as polymorphous low-grade neuroepithelial tumours of the young (PLNTY), a recently described tumour type. However, FGFR2 fusions have also been reported in glioneuronal tumours, highlighting the overlapping diagnostic criteria and challenges.
View Article and Find Full Text PDFPathol Res Pract
December 2024
Laboratory of Mutagenesis and Oncogenetics, Department of General Biology, Londrina State University, Londrina, PR, Brazil. Electronic address:
Urothelial bladder carcinoma (UBC) is a malignant neoplasm of the urinary tract that is highly prevalent worldwide and has a high rate of tumor recurrence. It is known that the BCL2 apoptosis regulator (BCL-2) gene encodes a mitochondrial protein that regulates programmed death cells by apoptosis. In contrast, the H2A.
View Article and Find Full Text PDFBiomedicines
October 2024
Hematology Service and Laboratory, Department of Oncology, Lausanne University Hospital, 1011 Lausanne, Switzerland.
AML with mutation is the largest subcategory of AML, representing about 35% of AML cases. It is characterized by CD34 negativity, which suggests a relatively differentiated state of the bulk of leukemic blasts. Notably, a significant subset of NPM1-mutated AML cases also exhibit HLA-DR negativity, classifying them as "double-negative", and mimicking, therefore, the CD34 HLA-DR immunophenotype of acute promyelocytic leukemia (APL).
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