A Case of Fanconi Anemia Diagnosed by a Chromosome Breakage Test with Skin Fibroblasts

Fanconi anemia is an autosomal recessive disease that's characterized by congenital anomalies, defective hematopoiesis and a high risk of developing acute myeloid leukemia and certain solid tumors. The clinical phenotype is extremely variable; therefore, the diagnosis is frequently delayed until the pancytopenia appears. Chromosomal instability, especially on exposure to an alkylating agent, may be seen in affected patients and it is the basis for a diagnostic test. This cellular phenotype can be demonstrated in cultured T cells, B cells, fibroblasts and fetal cells cultured from both amniotic fluid and chorionic villi. But somatic mosaicism may make the diagnosis of Fanconi anemia difficult because of inconclusive chromosome breakage studies. If the test is negative in lymphocytes and yet the clinical setting is highly suspicious, then the skin fibroblasts must be assessed. Because skin fibroblasts are somatic cells, a definitive test can be performed on primary skin fibroblasts. In this report we describe a case of Fanconi anemia that was diagnosed with the use of cultured skin fibroblasts, and this was despite the normal breakage studies in the peripheral blood.

A Case of Gastrointestinal Stromal Tumor in a Child / 대한소아소화기영양학회지

Gastrointestinal stromal tumors (GISTs) are the most common primary mesenchymal tumors of the digestive tract. They have been commonly observed in adults but have been rarely described in children. They arise typically from the intestinal wall and rarely in the mesentery, omentum, or retroperitoneum. GISTs originate from the interstitial cell of Cajal and are characterized by overexpression of the receptor tyrosine kinase c-kit. Up to 94% of these tumors express the CD117 on immunohistochemical stain. Surgery is the main modality of treatment for primary resectable GIST. Completely resectable GIST with low risk has excellent prognosis after primary surgical intervention, with over 90% of the 5-year survival. We report a case of 10-year-old girl presenting with an upper gastrointestinal bleeding caused by gastrointestinal stromal tumor.