[Postoperative long-term results in high-grade traumatic ruptures of the spleen in children]. / Postoperative Ergebnisse höhergradiger traumatischer Milzrupturen bei Kindern im Langzeitverlauf.

BACKGROUND: Splenic rupture is the most common injury in blunt abdominal trauma at any age. The grade of rupture, haemodynamic stability and, in the case of operative treatment, the experience of the surgeon all play an important role in preserving the spleen. Due to its important immunological function preservation of the spleen should be the goal. PATIENTS: From January 2000 to August 2009 five children (4 male/1 female) with isolated grade IV or V splenic rupture, according to the Organ Injury Score (OIS), were treated operatively. At the time of the trauma the patients were 8.8 ± 3.8 (mean ± standard deviation; range, 6­15) years old. Four patients with an OIS grade IV rupture were primarily treated with partially spleen-saving surgery: one resection of 2/3 of the spleen including the splenic vessels, one hemisplenectomy and two lower pole resections; in one patient with an OIS grade V rupture splenectomy was performed immediately. RESULTS: In one patient treated with a spleen-preserving approach (hemisplenectomy) the remainder of the spleen had to be removed due to acute bleeding on the first postoperative day. This patient needed two units of blood transfused following the second operation. There were no other complications. The two patients with splenectomy and resection of ⅔ of the spleen developed a transient thrombocytosis indicating impaired clearance of the spleen. In a follow-up involving ultrasonography (median 13, range 1-101 months) all patients managed with partially spleen-saving surgery showed a large remnant spleen with arterial perfusion. CONCLUSION: The majority of primarily partially spleen-preserving operations result from OIS grade IV ruptures of the spleen. Use of a partially spleen-saving surgical approach was successful in ¾ of these patients. Low morbidity and documented perfusion of the remnant spleen at long-term follow-up indicate that a spleen-preserving technique is warranted if an operative approach is required.

Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas.

Medulloblastoma (MB) represents the most frequent malignant brain tumor in children. Most MBs appear sporadically; however, their incidence is highly elevated in two inherited tumor predisposition syndromes, Gorlin's and Turcot's syndrome. The genetic defects responsible for these diseases have been identified. Whereas Gorlin's syndrome patients carry germ-line mutations in the patched (PTCH) gene, Turcot's syndrome patients with MBs carry germ-line mutations of the adenomatous polyposis coli (APC) gene. The APC gene product is a component of a multiprotein complex controlling beta-catenin degradation. In this complex, Axin plays a major role as scaffold protein. Whereas APC mutations are rare in sporadic MBs, a hot-spot region of beta-catenin (CTNNB1) mutations was identified in a subset of MBs. To find out if Axin is also involved in the pathogenesis of sporadic MBs, we analyzed 86 MBs and 11 MB cell lines for mutations in the AXIN1 gene. Using single-strand conformation polymorphism analysis, screening for large deletions by reverse transcription-PCR, and sequencing analysis, a single somatic point mutation in exon 1 (Pro255Ser) and seven large deletions (12%) of AXIN1 were detected. This indicates that AXIN1 may function as a tumor suppressor gene in MBs.