| Popis: |
BackgroundGastric cancer is an extremely rare diagnosis in children and adolescents. Representing 5% of neoplasia’s in childhood. Gastric adenocarcinoma has a prevalence of below 0.05% of all childhood cancers. The objective of this clinical case report is to describe the clinical presentation of this rare cancer in children, including it as a differential diagnosis, and to look for genetic causes in order to perform genetic counseling. Case presentationA 10 year old girl, experience epigastric pain, vomit and weight loss in 2 months period. Previously treated with proton pump inhibitors (PPIs), however without improvement of symptoms. Physical exam revealed a slim appearance, and a firm, painful, palpable mass in the upper abdomen. Esophagogastroduodenoscopy revealed a mass with neoplastic appearance. Biopsy report described a poorly differentiated, diffuse pattern of signet ring cells, with positive immunohistochemical studies for the expression of MLH1, MSH6; PMS2. H. pylori was negative. Because this cancer presented during childhood, CDH1 gene was analyzed, however no findings of pathologic variants, point mutations, or duplications or deletions were found. The patient underwent hospice care and died 7 months after the initial diagnosis.Discussion/ConclusionThe majority of gastric tumors during childhood are benign. Gastric adenocarcinoma is a rare diagnosis in pediatric patients. Currently, there are few reports of children with this cancer. The rarity of gastric adenocarcinoma with signet ring cells in pediatric patients makes early diagnosis difficult to make with treatment options limited to the pediatric population due to rarity, and worse prognosis. Knowledge of this disease in children could help physicians to identify atypical clinical manifestations and warning signs in order to have this as a differential diagnosis. Currently, genetic studies are essential to guide the treatment plan and to make genetic counseling to the patient and family members. |
