Our experiences with organ saving procedures of the spleen in childhood are presented. In 9 out of 12 children (75%) with traumatic rupture we preserved the organ partially or completely. In 4 patients a partial splenectomy was performed, in three cases of splenorrhaphy was done, and once the organ was repaired with fibrin adhesive. One child was treated conservatively. Another patient underwent splenectomy followed by autotransplantation. Two out of twelve died intra- or postoperatively from severe concomitant injuries. Out of 11 patients with Hodgkin's disease we performed partial splenectomy in five. Only in macroscopically involved cases the organ was removed. In one patient a huge epidermoid cyst of the spleen was enucleated. In another child with a big twisted wandering spleen a splenopexy after partial resection was carried out. In children the spleen should be preserved if ever possible.
Familial juvenile polyposis (FJP) is a hamartomatous polyposis syndrome characterized by the appearance of juvenile polyps in the gastrointestinal tract. Patients with this syndrome are at an increased risk for cancer of the colon, stomach, and pancreas. Recently, germline mutations in the SMAD4/DPC4 gene (official symbol MADH4) have been found in the majority of patients suffering from FJP. We have examined 11 unrelated patients with FJP for MADH4 germline mutations by direct sequencing of genomic DNA encompassing all 11 exons of the gene. Besides a novel mutation (959-960delAC at codon 277, exon 6) in one patient, we observed a 4-bp deletion (1372-1375delACAG) in exon 9 in two unrelated patients. Examination with microsatellite markers flanking MADH4 supports an independent origin of the mutation in these two families. The same 4-bp deletion in exon 9 has previously been described in three out of nine patients examined for MADH4 mutations. Our results combined with these previous data demonstrate that a unique 4-bp deletion in exon 9 of MADH4 accounts for about 25% of all FJP cases and that other MADH4 mutations occur in an additional 15% of patients. Genes Chromosomes Cancer 25:403-406, 1999.
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