Autoamputation of a polypoid carcinoma of the rectum / Autoamputación de un carcinoma polipoide en el recto

No disponible

Características clínicas y moleculares de una familia con síndrome de neoplasia endocrina múltiple tipo 1 / Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome

INTRODUCCIÓN: Los rasgos clínicos del síndrome de neoplasia endocrina múltiple tipo 1 (NEM-1) son: hiperplasia o adenoma de las glándulas paratiroides, adenoma hipofisario y tumores endocrinos gastroenteropancreáticos. Se debe a mutaciones del gen MEN1, localizado en la región q13 del cromosoma 11. El pronóstico de los pacientes depende del crecimiento tumoral y de su potencial metastático.PACIENTES Y MÉTODO: Se revisan las historias clínicas de los miembros de esta familia (6 varones y 2 mujeres) con NEM-1 diagnosticados entre 1995 y 2007 en el Hospital Donostia de San Sebastián. El estudio familiar de todos los pacientes y familiares (19 casos de 2 generaciones) se hizo en dos fases. La primera, mediante técnica de cribado de mutaciones y la segunda, por multiplex ligation-dependent probe amplification (MLPA)para detectar deleciones del gen.RESULTADOS: El cribado de mutaciones no permitió identificar ninguna variante patogénica en el probando de esta familia. El estudio mediante MLPA reveló una deleción que afectaba al exón 1 y 2 del gen MEN1. De los 10 familiares con esta alteración molecular, 8 presentaron algún rasgo fenotipico del síndrome (8 con hiperparatiroidismo, 2 con prolactinomas y 3 con gastrinomas) tras 12 años de seguimiento.CONCLUSIÓN: Se comentan las formas clínicas del síndromeNEM-1 en esta familia y la alteración molecular encontrada. El estudio de deleciones del gen MEN1 debería incorporarse al cribado molecular sistemático

BACKGROUND: The clinical features of multiple endocrineneoplasia type-1 (MEN-1) syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma and gastroenteropancreatic endocrine tumors. This syndrome isdue to mutations in the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on tumoralgrowth and metastatic potential.PATIENTS AND METHOD: We reviewed the medical records ofthe members of a family (6 men and 2 women) with MEN-1syndrome diagnosed between 1995 and 2007 in Hospital Donostia, San Sebastian (Spain). Familial study of all patients and family members (19 cases from 2 generations) was performed in 2 phases. The first phase consisted of mutation screening and the second of multiplex ligation-dependent probe amplification (MLPA) to detect deletions.RESULTS: Screening of mutations identified no pathogenicvariants in the proband of this family. MLPA revealed a deletion affecting exons 1 and 2 of the MEN1 gene. Of the 10 family members with this molecular alteration, 8 had at least one phenotypic feature of this syndrome (hyperparathyroidism in 8, prolactinomas in 2, and gastrinomas in 3) after 12 years of follow-up.CONCLUSION: We discuss the clinical forms of MEN-1 syndrome in this family and the molecular alteration found. Study of MEN1 gene deletions should be incorporated into routine molecular screening

[Clinical and molecular features in a family with multiple endocrine neoplasia type-1 syndrome]. / Características clínicas y moleculares de una familia con síndrome de neoplasia endocrina múltiple tipo 1.

BACKGROUND: The clinical features of multiple endocrine neoplasia type-1 (MEN-1) syndrome are hyperplasia or adenoma of the parathyroid glands, pituitary adenoma and gastroenteropancreatic endocrine tumors. This syndrome is due to mutations in the MEN1 gene, located on the q13 region of chromosome 11. Prognosis depends on tumoral growth and metastatic potential. PATIENTS AND METHOD: We reviewed the medical records of the members of a family (6 men and 2 women) with MEN-1 syndrome diagnosed between 1995 and 2007 in Hospital Donostia, San Sebastian (Spain). Familial study of all patients and family members (19 cases from 2 generations) was performed in 2 phases. The first phase consisted of mutation screening and the second of multiplex ligation-dependent probe amplification (MLPA) to detect deletions. RESULTS: Screening of mutations identified no pathogenic variants in the proband of this family. MLPA revealed a deletion affecting exons 1 and 2 of the MEN1 gene. Of the 10 family members with this molecular alteration, 8 had at least one phenotypic feature of this syndrome (hyperparathyroidism in 8, prolactinomas in 2, and gastrinomas in 3) after 12 years of follow-up. CONCLUSION: We discuss the clinical forms of MEN-1 syndrome in this family and the molecular alteration found. Study of MEN1 gene deletions should be incorporated into routine molecular screening.

Littoral-cell angioma of the spleen: a case report.

Littoral-cell angioma (LCA) is a primary splenic vascular tumor that arises from the normal littoral cells lining the sinus channels of the splenic red pulp. We report a case of LCA of the spleen, which has been infrequently communicated in the literature. A 76-year-old man with a 2-wk history of weight loss, abdominal pain and changes in bowel habits was admitted to our hospital. Imaging studies (CT and MRI) showed multiple lesions in the spleen. Splenectomy was performed. Lining cells were positive for CD31/CD68 markers. Our case was associated with a serrated colonic adenoma. LCA is a benign vascular tumor of the spleen that needs to be included in the differential diagnosis of multiple splenic nodules.

Síndrome de Sweet y artritis en una paciente con colitis ulcerosa / Sweet’s syndrome and arthritis in a patient with ulcerative colitis

No disponible

Linfohistiocitosis hemofagocítica desencadenada por el virus de Epstein-Barr en adulto con enfermedad de Still / Hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus in an adult with Still disease

No disponible