Asunto(s)
Enfermedades del Sistema Nervioso Autónomo/complicaciones , Queratodermia Palmar y Plantar Difusa/etiología , Abdomen Agudo/etiología , Acetilcolina/fisiología , Adulto , Autoanticuerpos/análisis , Disuria/etiología , Humanos , Queratodermia Palmar y Plantar Difusa/clasificación , Masculino , Receptores Nicotínicos/inmunología , Receptores Nicotínicos/fisiologíaRESUMEN
The locus for a syndrome of focal palmoplantar keratoderma (Tylosis) associated with squamous cell oesophageal cancer (TOC) has been mapped to chromosome 17q25, a region frequently deleted in sporadic squamous cell oesophageal tumours. Further haplotype analysis described here, based on revised maps of marker order, has reduced the TOC minimal region to a genetic interval of 2 cM limited by the microsatellite markers D17S785 and D17S751. Partial sequence data and complete physical maps estimate the actual size of this region to be only 0.5 Mb. This analysis allowed the exclusion of proposed candidate tumour suppressor genes including MLL septin-like fusion (MSF), survivin, and deleted in multiple human cancer (DMC1). Computer analysis of sequence data from the minimal region identified 13 candidate genes and the presence of 50-70 other 'gene fragments' as ESTs and/or predicted exons and genes. Ten of the characterized genes were assayed for mutations but no disease-specific alterations were identified in the coding and promoter sequences. This region of chromosome 17q25 is, therefore, relatively gene-rich, containing 13 known and possibly as many as 50 predicted genes. Further mutation analysis of these predicted genes, and others possibly residing in the region, is required in order to identify the elusive TOC locus.
Asunto(s)
Carcinoma de Células Escamosas/genética , Cromosomas Humanos Par 17 , Neoplasias Esofágicas/genética , Queratodermia Palmar y Plantar Difusa/genética , Carcinoma de Células Escamosas/etiología , Mapeo Cromosómico , Neoplasias Esofágicas/etiología , Genes Supresores de Tumor , Humanos , Queratodermia Palmar y Plantar Difusa/etiologíaRESUMEN
Palmoplantar keratoderma (PPK) is a congenital or acquired disorder characterized by the abnormal thickening of the skin of the palms and soles. The thickening can present as a diffuse, focal or punctate pattern. It has been reported to be associated with internal malignancies such as lung and esophageal carcinomas. When PPK is associated with malignancy the prognosis is poor. Patients with these conditions should undergo frequent medical examinations, which should include chest radiography and cytologic examination of the sputum. The present patient is a 47-year-old-man with PPK who suffered from metastatic non-small-cell carcinoma of the lung.