ABSTRACT
Germline TP53 mutations are associated with Li-Fraumeni syndrome, an autosomal dominant disorder characterized by a predisposition to multiple early-onset cancers including breast cancer (BC), the most prevalent tumor among women. The majority of germline TP53 mutations are clustered within the DNA-binding domain of the gene, disrupting the structure and function of the protein. A specific germline mutation in the tetramerization domain of p53, p.R337H, was reported at a high frequency in Southern and Southeastern Brazil. This mutation appears to result in a more subtle defect in the protein, which becomes functionally deficient only under particular conditions. Recent studies show that the BC phenotype in TP53 mutation carriers is often HER2 positive (63-83%). Considering that the immunophenotype of BC among p.R337H carriers has not been reported, we reviewed immunohistochemistry data of 66 p.R337H carriers in comparison with 12 patients with other non-functional TP53 germline mutation. Although 75% of carriers of these mutations showed significant HER2 overexpression (3+), corroborating previous studies, only 22.7% of p.R337H patients had BC overexpressing HER2. These results reinforce the notion that different germline mutations in TP53 may predispose to BC via different mechanisms.
Subject(s)
Breast Neoplasms/genetics , Genes, p53 , Germ-Line Mutation , Heterozygote , Adult , Aged , Breast Neoplasms/etiology , Female , Genetic Predisposition to Disease , Humans , Immunophenotyping , Middle Aged , Receptor, ErbB-2/analysis , Retrospective StudiesABSTRACT
Case report of a 69 year-old patient, with history of repetitive trauma events in the wrist, clinically simulating tenosynovitis, being held with Doppler Ultrasound and Magnetic Nuclear Resonance, which showed ulnar artery thrombosis. The accurate diagnosis of the hammer hypothenar disease through those tests enable an early intervention, improving the prognosis of patients affected by this rare disease.
Paciente de 69 anos, com história de traumas repetitivos no punho, simulando clinicamente tenossinovite, sendo feitas ultrassonografia com doppler e ressonância nuclear magnética, que evidenciaram trombose da artéria ulnar. O diagnóstico preciso da doença do martelo hipotenar por meio desses exames possibilita uma intervenção precoce e melhora o prognóstico dos pacientes acometidos por essa rara afecção.
Subject(s)
Humans , Male , Aged , Cumulative Trauma Disorders , Magnetic Resonance Imaging , Wrist InjuriesABSTRACT
Case report of a 69 year-old patient, with history of repetitive trauma events in the wrist, clinically simulating tenosynovitis, being held with Doppler Ultrasound and Magnetic Nuclear Resonance, which showed ulnar artery thrombosis. The accurate diagnosis of the hammer hypothenar disease through those tests enable an early intervention, improving the prognosis of patients affected by this rare disease.
