Belar O.,Cruces Hospital |
Belar O.,University of the Basque Country |
De La Hoz C.,University of the Basque Country |
Perez-Nanclares G.,Cruces Hospital |
And 42 more authors.
Clinical Endocrinology | Year: 2012
Context: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder mostly owing to a genetic defect in MEN1 gene. Not all patients with MEN1 phenotype present a defect in this gene. Thus, other genes like CDKN and AIP have been showed to be involved in MEN1-like patients. Objective: The aim of this study was to perform a genetic screening in our cohort or patients with suspected MEN1 syndrome by direct sequencing analysis of MEN1, CDKN1B and AIP, and dosage analysis of MEN1 and AIP. Results: A total of 79 different sporadic and familial cases with the MEN1 phenotype have been studied, in which 34 of them (48%) present a mutation in MEN1 gene. In two patients without a detectable mutation in MEN1 gene, we have identified a novel missense mutation (c.163G>A/p.Ala55Thr) in CDKN1B gene and a novel frameshift mutation (c.825-845delCGCGGCCGTGTGGAATGCC CA/p. His275GlnfsX49) in AIP gene, respectively. Conclusions: Our data support that MEN1 gene is the main target for genetic analysis in clinical MEN1 syndrome. We confirm that in those patients without MEN1 gene mutation, other genes such as CDKN1B/p27Kip, or AIP in those including pituitary tumours should also be tested. © 2012 Blackwell Publishing Ltd.
Girones R.,Hospital Lluis Alcanyis Xativa |
Aparicio J.,Hospital La FE Valencia |
Roure P.,Hospital Of Vic |
Germa-Lluch J.R.,Institute Catala Doncologia |
And 16 more authors.
Clinical and Translational Oncology | Year: 2014
Background: Brain metastases of testicular germ cell tumor (TGCT) are a rare event. Prognostic is poor and there is not much evidence on optimal management of these patients.Patients and methods: A review of case records of germ cell tumor patients within the Spanish Germ Cell Cancer Group data base from 1994 to 2012 was conducted.Results: Thirty-three out of 6,200 cases (0.5 %). Nineteen patients (57 %) group 1: synchronous, 13 (40 %) group 2: metachronous and only one developed brain metastasis during cisplatin-based chemotherapy (excluded from the analysis). Median serum BHCG levels at initial diagnosis was higher in group 1, whereas elevated AFP serum levels were more common in group 2. Histology in the primary tumor: chorionic carcinoma for group 1 versus embryonal carcinoma for group 2. Mainly solitary brain metastasis in group 2 (54 versus 21 %, respectively). The median overall survival from the diagnosis of central nervous system involvement was 16 months for group 1 (CI 95 % 13.9–18) and 23 months (95 % CI 0–165) for group 2 (log rank p = 0.84). Long-term survivors were practically identical in the two groups (38.9 % group 1 versus 38.5 % group 2). Regardless of the timing of brain metastasis, those patients that achieved complete response to the treatment had better survival (log rank p 0.003).Conclusion: Although some distinctive clinical characteristics have been found between patients with synchronous versus metachronous brain metastasis from TGCT, the timing of brain metastasis did not seem to have prognostic influence, but due to the retrospective nature of the analysis and the results should be interpreted with caution. © 2014, Federación de Sociedades Españolas de Oncología (FESEO).
PubMed | Hospital Doctor Peset and Hospital Doctor Peset Valencia
Type: Journal Article | Journal: Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva | Year: 2016
Asymptomatic giant hiatal hernia comprises a relatively common disease, mostly presented in women with 50 years onwards. The therapeutic approach remains controversial in recent years. Under the latest SAGES`revision, all the symptomatic hernias must be repaired, but the symptomatic hiatal hernia definition isn`t even now established. We present the case os a A 67 - year old woman with an asymptomatic hiatal hernia, that is admitted to our hospital owing to toracic and abdominal pain. This pain was related with food intake for 6 months. The patient presents a clear worsening in the last 24 hours, with no other asociated symptomatology. Suspecting an incarcerated hiatal hernia with stomach perforation, the patient is taken to theatre for a laparotomy during the early hours. An atypic gastrectomy of the greater curvature with a gastropexy is performed with fixation to the anterior abdominal wall. The surgery is completed with a feeding jejunostomy. The Manegement of giant paraesophagic hernias, still remains as one of the challenge of the esophageal surgeons.