Browsing by Author "Solar, A."
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- ItemCarcinoma familiar del tiroides no medular (CFTNM): características de presentación en 17 casos(2007) Mosso, G. L.; Velasco, S.; Cardona, B.; Fardella, C.; González, G.; López, J.M.; Rodríguez, J.A.; Arteaga, E.; Salazar, I.; Solar, A.; González, H.; Cruz, F.; NCD Risk Factor Collaboration (NCD-RisC)Background: Papillary thyroid carcinoma can have familial aggregation. Aim: To compare retrospectively familial non medullary thyroid carcinoma (FNMTC) with sporadic papillary thyroid carcinoma (PTC). Material and methods: Retrospective analysis of medical records of patients with thyroid carcinoma. An index case was defined as a subject with the diagnosis of differentiated thyroid carcinoma with one or more first degree relatives with the same type of cancer. Seventeen such patients were identified and were compared with 352 subjects with PTC. Results: The most common affected relatives were sisters. Patients with FNMTC were younger than those with PTC. No differences were observed in gender, single or multiple foci, thyroid capsule involvement, surgical border involvement, number of affected lymph nodes and coexistence of follicular hyperplasia. Patients with FNMTC had smaller tumors and had a nine times more common association with lymphocytic thyroiditis. Five patients with FNMTC had local recurrence during 4.8 years of follow up. Conclusions: Patients with FNMTC commonly have an associated chronic thyroiditis, are younger and have smaller tumors than patients with PTC.
- ItemDiseño de una escala ecográfica predictora de malignidad en nódulos tiroideos: Comunicación preliminar(2009) Domínguez, J.M.; Baudrand, R.; Arteaga, E.; Campusano, C.; González, G.; Mosso, L.; Fardella, C.; Arias, T.; Pizarro, A.; Gómez, M.; Cruz, F.; Torres, J.; Solar, A.; Cavada, G.; NCD Risk Factor Collaboration (NCD-RisC)Background: Thyroid nodules are common and associated to a low risk of malignancy. Their clinical assessment usually includes a fine neddle aspiration biopsy (FNAB). Aim: To identify ultrasonographic characteristics associated to papillary thyroid carcinoma (PTC) and generate a score that predicts the risk of PTC. Material and methods: Retrospective review of all fine needle aspiration biopsies of the thyroid performed in a lapse of two years. Biopsies that were conclusive for PTC were selected and compared with an equal amount of randomly selected biopsies that disclosed a benign diagnosis. Results: One hundred twenty two biopsies of a total of 1,498 were conclusive for PTC. Univariate analysis showed associations with PTC for the presence of micro-calcifications (Odds ratio (OR) 49.2: 95% confidence intervals (CI) 18.7-140.9), solid predominance (OR 25.1; 95% CI 6-220), hypoechogenicity (OR 23.5, 95% CI 6.5-122.6), irregular borders (OR 17, 95% CI 7.2-42.9), lymph node involvement (OR 12.3, 95% CI 2.7-112), central vascularization (OR 12.2, 95% CI 4.8-33.3), local invasion and hyperechogenicity (OR 0.2; CI 95% CI 0.03-0.6). Multivariate analysis disclosed microcalcifications (OR 28.1; CI 95% 8.9-89), hypoechogenicity (OR 9.4; 95% CI 1.5-59.5) and irregular borders (OR 4.7; CI 95% 1.5-15) as the variables independently associated with the presence of PTC. The prevalence of PTC in the presence of the three variables was 97.6% (Likelihood ratio (LR) 45) and 5.4% in their absence (LR 0.06). Conclusions: This scale predicts the presence or absence of PTC using simple ultrasound characteristics.
- ItemMicrocarcinoma tiroideo de evolución agresiva(2005) Mosso, L.; Jimenez, M.; Gonzalez, H.; Solar, A.; Torres, J.; Fardella, C.; NCD Risk Factor Collaboration (NCD-RisC)The treatment of papillary thyroid carcinoma of less than 10 mm diameter is a matter of controversy. The incidental finding of papillary microcarcinomas in autopsies is frequent and some authors postulate that these tumors are biologically inactive and should only be observed. We report a 21 years old woman with a papillary thyroid cancer of 6x5x5 mm and bilateral paratracheal metastases, that leas subjected to a total thyroidectomy. She received 200 mCi of radioiodine. Two years after surgery, a new nodule of 9.6 Mm diameter was detected by ultrasound, that was treated with a new dose of 200 1,170 of radioiodine. One year later a suprasternal mass of 2 cm diameter and 3 enlarged lymph nodes were detected. She was subjected to a surgical lymph node dissection of the neck and the biopsy confirmed the presence of cancer. She received a new dose of 300 mCi of radioiodine. The mother of the patient had a 7 mm thyroid nodule that was also a papillary carcinoma.
- ItemNew splicing mutation of MEN1 gene affecting the translocation of menin to the nucleous(2006) Tala, H. P.; Carvajal, C. A.; Gonzalez, A. A.; Garrido, J. L.; Tobar, J.; Solar, A.; Campino, C.; Arteaga, E.; Fardella, C. E.Multiple endocrine neoplasia type 1 (MEN1) is a syndrome inherited in an autosomal dominant trait caused by the inactivation of the tumor suppressor gene MEN1. Objective: To communicate a family with a new heterozygous germ line mutation in the intronic region of MEN1 gene and to study its influence in the menin expression. Patients and Methods: We studied 5 members of a family with symptomatic hyperparathyroidism (HIPT). One of them had also a neuroendocrine pancreatic tumor, and 2 had non-functional multinodular cortical adrenal hyperplasia compatible with the diagnosis of MEN1. After the mutation was identified, HSP9211 restriction enzyme was used to determine both zygosity and segregation of the mutation. RT-PCR from leukocyte's isolated mRNA and western blot from pancreatic tumor tissue were performed. In vitro studies were done in Chinese hamster ovary (CHO) cells transfected with reporter minigenes carrying the coding regions spanning exon (EX)-intron 9 and EX10 with the mutant and the wild type sequences. Results: We identified a heterozygous G-to-T substitution in the intron-EX junction (IVS9-1 G > T) of MEN1 gene in the index case and the family members. The mRNA from patient's leukocytes was larger (934 bp) in comparison to the normal transcript (717 bp). Immunoblot analysis demonstrated that wild type (67 kDa) and two additional mutant proteins (similar to 55 and similar to 90 kDa) were expressed in the pancreatic tissue. The in vitro study showed a 45% nuclear localization of the mutated menin signal and a 95% in the wild type protein. Conclusions: We identified a new intronic heterozygous germ line mutation (IVS9-1G > T) of MEN1 gene in a family affected by MEN1 syndrome. This mutation alters the splice acceptor site of intron 9 that promotes an incorrect splicing, generating aberrant proteins without the nuclear localization signals necessary for the normal menin translocation to the nucleus.
- ItemProlonged survival of a woman with lung cancer diagnosed and treated with chemotherapy during pregnancy - Review of cases reported(ELSEVIER IRELAND LTD, 2008) Garrido, M.; Clavero, J.; Huete, A.; Sanchez, C.; Solar, A.; Alvarez, M.; Orellana, E.Lung cancer is the most common cause of cancer death in women in the US, diagnosis during pregnancy is rare and has been reported 34 times. We report a case of a 34-year-old woman with stage III locally advanced lung cancer diagnosed during the 27th week of pregnancy. Chest X-ray and thorax MRI revealed a 9 cm x 7 cm mass in the upper right lung lobe. CT guided FNA biopsy indicated adenocarcinoma. Neoadjuvant chemotherapy was administered with vinorelvine (Navetbine (R)) and cisplatin for three cycles with partial response. At 39 weeks, she delivered a healthy baby. Right upper lobectomy with complete lymphadenectomy was performed 3 weeks later. Final pathology was reported as an adenocarcinoma of 7.5 cm x 6.2 cm with involvement of 16/30 lymph nodes. She received three additional cycles of chemotherapy and radiotherapy. Follow-up with CT scan after 11 months did not show recurrence. (C) 2007 Elsevier Ireland Ltd. Ail rights reserved.
