[Show abstract][Hide abstract] ABSTRACT: Medulloblastoma, which accounts for 20-25% of all childhood brain tumors, is defined as a primitive neuroectodermal tumor (PNET) located in the cerebellum. Supratentorial PNET are less frequent than medulloblastoma. But their clinical outcome is worse than in medulloblastomas. Chromosome 10q contains at least 2 tumor suppressor genes that might play a role in brain tumor development: PTEN and DMBT1. The aim of this study was to compare the status of homozygous deletion and expression of PTEN and DMBT1 genes in PNET primary tumor samples and cell lines. Homozygous deletions of PTEN and DMBT1 were studied in 32 paraffin-embedded PNET samples (23 medulloblastomas and 9 supratentorial PNET) and in 7 PNET cell lines, by differential PCR and by FISH. PTEN homozygous losses were demonstrated in 7 medulloblastomas (32%) and in no supratentorial PNET, while homozygous deletions of DMBT1 appeared in 1 supratentorial PNET (20%) and in 7 medulloblastomas (33%). No homozygous deletion of PTEN or DMBT1 was detected in any of the PNET cell lines either by differential PCR or by FISH. Expression study of the 2 genes was performed in the 7 PNET cell lines by RT-PCR. One PNET cell line lacked PTEN and DMBT1 expression, while 2 medulloblastoma cell lines did not express DMBT1. Our results add some positive data to the hypothesis that supratentorial PNETs and medulloblastomas might be genetically different.
[Show abstract][Hide abstract] ABSTRACT: La hibridación genomica comparada (CGH) es una técnica de reciente aplicación sobre el DNA extraído de tumores sólidos, que permite analizar globalmente el estado anatómico del genoma, en un solo experimento, mostrando los loci cromosómicos que sufren amplificación y los que sufren deleción. En los loci amplificados se infiere la existencia de un oncogén (gen que promueve el crecimiento tumoral), mientras que las deleciones se asocian a la existencia de genes supresores tumorales (genes que, cuando dejan de cumplir su función, promueven el desarrollo de tumores). La técnica de CGH requiere que el DNA extraído de los tumores sea de buena calidad. Por ello, se recomienda realizar CGH partiendo de tumores frescos-congelados e hibridando el DNA extraído del tumor, junto a DNA normal (no tumoral), sobre metafases normales. El estudio de las áreas amplificadas o delecionadas se hace cromosoma a cromosoma, tras integrarse la fotografía de la hibridación en un microscopio de fluorescencia unido a un ordenador cuyo software realiza un análisis de variedades de color. Hemos analizado el DNA de 24 glioblastomas guardados a −80°C desde la cirugía. Los resultados muestran que es más frecuente la amplificación que la deleción de loci, por lo que se sospecha que participan más oncogenes que genes supresores de tumores en el desarrollo del glioblastoma. Las amplificaciones corresponden a los cromosomas 17 (71% de los tumores), 20 (71%), 22 (58%), 16 (58%), 7 (58%), 12 (46%), entre otros, mientras que las deleciones se asocian más frecuentemente a los cromosomas 13 (42%), 10 (33%), 4 (30%), 18 (30%) y 9 (25%). Todo ello confirma que, posiblemente el desarrollo de glioblastomas podría estar ligado a amplificación de EGFR (cromosoma 7) y ERBB2 (cromosoma 17), además de a otros loci, mientras que las deleciones podrían asociarse a pérdida de función de los genes supresores de tumores RB (cromosoma 13), pl6 (cromosoma 9), PTEN y DMBT1 (cromosoma 10). Por el contrario, p53, en el cromosoma 17, no se mostró afectado. Se discutirá el papel de la técnica de CGH en el análisis genético de los tumores cerebrales, su ayuda al diagnóstico y clasificación de los mismos, así como la obligada implicación de los neurocirujanos en el nuevo escenario molecular de la Neuro-Oncología.
[Show abstract][Hide abstract] ABSTRACT: A study is made of the main clinicopathological factors in squamous cell carcinoma (SCC) of the tongue and floor of the mouth in the province of Vizcaya (Biscay) (The Basque Country, Spain), and their relation to patient prognosis.
A retrospective study was made of 40 patients with early (clinical stage I/II) SCC of the tongue and floor of the mouth. A previously designed protocol was used to record the clinical and histopathological data, which were subjected to descriptive and comparative bi- and multivariate statistical and survival analyses.
There were 34 males and 6 females, with a mean age of 55.7 years (range 33-81). In 23 cases the SCC was located in the tongue, and in 17 cases in the floor of the mouth. The average tumor diameter was 2.6 cm; 65% of the neoplasms were ulcerated. The mean clinical course was 3.4 months, with an average tumor growth rate or velocity of 268 (Evans formula). Thirty-four patients were smokers and 33 consumed alcohol. All SCC of the floor of the mouth, and all regional recurrences, were diagnosed in smokers and drinkers. Survival at 5 years was 65%. Well differentiated SCC were diagnosed in 52.5% of cases. The average histological malignancy grade was 1.96, and was higher in males, tongue malignancies, T2 lesions, tumors with growth velocities above 200, and in recurrent neoplasms.
Early SCC of the tongue and floor of the mouth in Vizcaya affects mainly male smokers and drinkers of alcohol under the age of 60 years. A relationship is observed between the histopathological findings (particularly invasion mode and stage) and patient prognosis.
Medicina oral: organo oficial de la Sociedad Espanola de Medicina Oral y de la Academia Iberoamericana de Patologia y Medicina Bucal 01/2001; 6(2):87-94.
[Show abstract][Hide abstract] ABSTRACT: Warthin tumor is the second most common benign parenchymal salivary neoplasm. The purpose of this study was to evaluate the histopathologic features of Warthin tumor to determine whether a developmental pattern could be identified.
Seventy-nine Warthin tumors in 63 patients (62 male and 1 female; average age, 58.62 years) were examined. All cases were histopathologically classified and morphometrically analyzed with an Optomax system to measure the proportions of lymphoid tissue and cystic cavities.
The predominantly epithelial type (21% of all cases) of Warthin tumor was associated with a mean patient age at diagnosis of 53 years, a mean evolution time of 2.8 months, an average size of 1 cm, and a mean lymphoid component of 10%. In the case of the classical type (61% of all cases), the mean patient age at diagnosis was 58 years, the mean evolution time 9 months, the average size 2.4 cm, and the mean lymphoid component 40%. For the predominantly lymphoid type (18% of all cases), these values were, respectively, 62 years, 11 months, 2.8 cm, and 74%. The mean size of the classical and lymphoid tumors (79% of the Warthin tumors) was significantly greater (p < 0.0001) than the mean size of the epithelial type (21% of the Warthin tumors). A positive correlation between tumor size and evolution time was found.
Our results suggest that the Warthin tumor initially develops as an adenomatous epithelial proliferation followed by lymphocytic infiltration.
[Show abstract][Hide abstract] ABSTRACT: Cardiac transplantation has succeeded in improving the survival of the patients with terminal heart failure spectacularly. Nevertheless, in the transplant recipients the cardiac response to the effort is limited. In order to increase the cardiac output, the denervated heart needs an important increase of the precharge, since its chronotropic response is reduced. This rise of the precharge, in a restrictive heart in itself, leads to a disproportionate increase of the filling pressures. This limits the functional capacity of the patient due to the feeling of dyspnea. A program of cardiac rehabilitation, that includes a physical continued training, gets to improve the physiopathologic response to the exercise of the transplant heart.
Revista Espa de Cardiologia 02/1995; 48 Suppl 7:135-9. · 3.79 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We report a case of a 17-year-old woman with Kearns-Sayre Syndrome who developed a high degree atrioventricular block. She had intraventricular conduction disturbances with normal atrioventricular conduction in previous electrocardiograms. The diagnosis criteria of this rare syndrome are commented on, and we describe the electrophysiological features, prognostic and treatment that atrioventricular conduction disturbances produce in these patients. We emphasize the necessary collaboration between neurologists and cardiologists in the early recognition of the conduction disturbances for implanting a prophylactic pacemaker.
Revista Espa de Cardiologia 04/1990; 43(3):192-4. · 3.79 Impact Factor