ABSTRACT
Orofaciodigital syndrome (OFDS) is a collective term for a rare inherited disorder that displays a wide phenotypic and genetic heterogeneity. The findings of diagnostic are the combination of the characteristic oral, facial and digital anomalies. In this heterogeneous group, the diagnosis of OFDI focuses on the association of the oro-dental, digital and cerebral malformations, polycystic kidney disease and several other manifestations. In this article, we report and discuss the case of a girl with OFDI syndrome, who presented as a peculiar phenotype on clinical examination. The present case was diagnosed at 24 months old and re-examined at 16 years old. The imagistic and cephalometric analyses were performed to investigate the alterations in the facial and skeletal bones and also neurological, renal and dental development. The differential diagnosis of this entity is discussed.
Subject(s)
Orofaciodigital Syndromes/diagnosis , Child, Preschool , Female , Humans , Orofaciodigital Syndromes/pathologyABSTRACT
Identification of the genes involved in tumor initiation and progression has led to development of new markers and generated targets for new drugs. This study aimed to evaluate p53 and HER-2/neu genes status of and their protein products in oral cancer patients. Tumor specimens from 116 cases diagnosed with oral squamous cell carcinoma were analyzed. P53 and HER-2/neu immunoreactivity were studied. FISH analysis was performed to elucidate p53 and HER-2/neu gene status. Male cases represented 84% of the group. The majority of cases were between 51-60 years and moderately differentiated oral carcinoma had an incidence of 58.6%. Thirty-four cases showed p53 overexpression, negative immunoreaction was observed in 16.37% of cases. 66.38% of cases had p53 deletion, with an increased rate observed in neoplasms of the tongue. Immunohistochemical analysis of HER-2/neu receptor protein revealed that 76.72% were negative, 5.17% had weak immunostaining, 14.65% had +2 score, the others had +3 score. 24.1% of cases were analyzed using FISH technique, of which 25% were without amplification, but with polysomy for chromosome 17. 18.1% of total cases were amplified, with the rate HER-2/neu:CEP17 higher than 2. Of the 77 cases with a single p53 allele, 20 associated HER-2/neu amplification, 31 had positive anti-HER-2/neu immunoreaction, but did not have HER-2/neu:CEP17 rate >2. There was a significant association between HER-2/neu amplification and deletion of a p53 allele. These results could justify more extensive research to assess p53 and HER-2/neu gene status as significant prognostic factors in oral cancers.
Subject(s)
Carcinoma, Squamous Cell/genetics , Mouth Neoplasms/genetics , Receptor, ErbB-2/genetics , Tumor Suppressor Protein p53/genetics , Adult , Age Distribution , Aged , Aged, 80 and over , Antibodies, Neoplasm , Carcinoma, Squamous Cell/immunology , Carcinoma, Squamous Cell/pathology , Chromosomes, Human, Pair 17/genetics , Female , Gene Amplification , Gene Expression Regulation, Neoplastic , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Male , Middle Aged , Mouth Neoplasms/immunology , Mouth Neoplasms/pathology , Receptor, ErbB-2/metabolism , Tumor Suppressor Protein p53/metabolismABSTRACT
The invasive mammary cancer is the most frequent malignant tumor of women. Different inherited or acquired molecular genetic alterations have been identified in human breast cancers. A fraction of these cancers, as part of their development, undergoes gene amplification. Among the potential prognostic factors are included the biomarkers which measure or are associated with biological processes involved in tumor progression. Evaluation of HER-2 status is important in the management of patients with breast carcinoma, especially for the identification of those who are eligible for immunotherapy. The aim of our study was to evaluate HER-2 amplification status of human breast cancers by FISH and immunohistochemistry. From the total of 50 tumors included in the study, 17 (34%) presented different degrees of positivity; 33 (66%) did not express the oncoprotein HER-2. HER-2 gene and chromosome 17 status were tested in HER-2 2+ cases using FISH technique. FISH analysis may be useful to better evaluate HER-2 status in breast cancer in uncertain cases, where the immunohistochemistry score is 2+. HER-2 testing results have an important role in the clinical management of breast cancer patients. The identification of HER-2 positive tumors is certainly crucial in order to identify patient candidates for anti-HER-2 therapies.
Subject(s)
Breast Neoplasms/enzymology , Breast Neoplasms/genetics , Receptor, ErbB-2/genetics , Adult , Aged , Aged, 80 and over , Breast Neoplasms/pathology , Female , Gene Amplification , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence/methods , Middle Aged , Receptor, ErbB-2/biosynthesisABSTRACT
We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by germline mosaicism for an autosomal dominant gene. We compared the phenotype of our patients to descriptions of reported cases and discuss phenotypic variability.
