ABSTRACT
Over a 12-month period, we diagnosed poorly differentiated infiltrative independent-cell gastric adenocarcinoma in two brothers and one sister aged 41 to 47 years. Their father had died from antral cancer at the age of 34 years. These cancers had two characteristic clinical features: rapid course and distant malignant dissemination. In all three patients, polymerase chain reaction-sequencing of the E-cadherin (CDH1) gene of white blood cells identified a heterozygous nonsense mutation of exon 3, producing a stop codon at position 95 (Q95X), resulting in a truncated protein. The alteration of this protein, which plays a crucial role in epithelial cell adhesion, probably explains the clinical expression in this type of familial diffuse gastric cancer.
Subject(s)
Cadherins/genetics , Linitis Plastica/diagnosis , Linitis Plastica/genetics , Mutation , Stomach Neoplasms/diagnosis , Stomach Neoplasms/genetics , Adult , Endosonography , Fatal Outcome , Female , Follow-Up Studies , Gastrectomy , Gastric Mucosa/pathology , Genetic Markers/genetics , Humans , Linitis Plastica/surgery , Male , Middle Aged , Neoplasm Invasiveness , Pedigree , Stomach Neoplasms/surgery , Treatment OutcomeABSTRACT
We report a case of multiple aseptic splenic abscesses occurring in a woman with Crohn's disease for three years. All microbiological samples were negative. The diagnosis was suspected on abdominal echography and CT scan and confirmed on histologic examination of the splenectomy specimen. The evolution was marked by recurrence of fever and inflammatory syndrome, associated to transitory morphological abnormalities of the accessory spleen. Aseptic splenic abscesses recurrence was suspected. This case allows us to consider aseptic splenic abscesses as an extra-intestinal manifestation and not as a splenic localisation of Crohn's disease.
