Peritoneal metastasis of a pineoblastoma in a patient with a ventriculo-peritoneal shunt

A 12 years old child had an increase of intra cranial pressure secondary to a large pinealoblastoma. A ventriculo peritoneal shunt procedure was performed followed several days later by a partial resection of the pinealoblastoma. One year later, ultrasound and computed tomography examinations discovered a solid mass in the pelvis. At surgery it appeared to be a metastasis of the pinealoblastoma. It is a very seldom complication of the shunt and various mechanisms are discussed.     

Repair of a canalicular laceration in a neonate

A neonate with lower eyelid and corresponding canalicular laceration of the left eye was examined 2 hours after birth. The eyelid and canalicular laceration were repaired with a short, 24-gauge catheter as the stent. The laceration healed with minimal scarring, and the epiphora had disappeared by the 12-month follow-up visit.     

Embryogenesis of a sac containing a Meckel's diverticulum

The embryogenesis of a previously unreported mesothelial pouch containing a Meckel's diverticulum is presented.     

Hepatic localization of a fibrosarcoma in a child with a liver transplant.

Two years after an orthotopic liver transplantation, a multifocal hepatic tumor with lymphonodular metastases, identified as a fibrosarcoma, developed in a 4-year-old girl being treated with cyclosporine. On a needle biopsy sample, genetic typing of the HLA-DR group revealed that tumoral cells were from the recipient.     

Rupture of a sinus of Valsalva aneurysm in a neonate

A neonate with severe congestive heart failure due to rupture of the right sinus of Valsalva into the right ventricle is described. The initial diagnosis was made with colour Doppler echocardiography and confirmed by aortography. Patch closure of the sinus of Valsalva defect was performed successfully on the 3rd day of life.     

Primary observation of a congenital intracranial teratoma in a twin with a healthy brother

Primary intracranial teratomas are rare germ cell tumors arising from embryonic tissues, which contain cellular or tissue derivates from all three germ layers. Today the early intrauterine diagnosis by ultrasound is possible. We first describe a patient with such a tumor which was diagnosed by routine ultrasound in the 33rd week of gestational age in a twin-pregnancy, of which the 2nd twin developed normally. This must be considered in the obstetrical situation. In such a case the parents should be advised accordingly.     

Hypermethylation as a potential prognostic factor and a clue to a better understanding of the molecular pathogenesis of medulloblastoma--results of a genomewide methylation scan

BACKGROUND: The molecular mechanisms controlling initiation and progression of medulloblastomas are largely unclear. Changes in DNA methylation of promoter regions have been shown to disturb the expression of growth regulatory genes. PATIENTS AND METHODS: We evaluated DNA methylation patterns in 17 medulloblastomas, 5 stPNETs and 5 medulloblastoma cell lines using Restriction Landmark Genomic Scanning (RLGS), a method displaying up to 2.000 potential gene loci in a single gene. To test whether previously characterized tumor suppressor genes are affected by hypermethylation we performed MS-PCR for p15INK4B, p16INK4A, VHL, TP53 and E-cadherin. RESULTS: The analysis of RLGS profiles from tumors revealed an abundance of hypermethylation in primary tumors and cell lines. Extrapolated to the human genome with its approximately 36,000 genes a total of 420 loci become hypermethylated in the tumor genomes. The previously characterized medulloblastoma breakpoint cluster in 17p11.2 appears to be a hotspot for aberrant methylation. Cox regression analysis of survival data identified seven CpG islands for which hypermethylation is suggestive of a poor prognosis. MS-PCR analysis of known genes demonstrated hypermethylation of p16INK4A in a limited number of tumors. The pattern of DNA hypermethylation was similar in medulloblastomas and stPNETs. However, some CpG islands were shown to be specific for a tumor type, while others were shared targets. CONCLUSIONS: Hypermethylation is a common abnormality in primary medulloblastomas and supratentorial PNETs. Several hundreds of CpG islands are potential targets for methylation in medulloblastomas including the breakpoint cluster in 17p11.2. The methylation status of certain gene sequences appears to be associated with the clinical outcome. Promoter hypermethylation has an outstanding potential as a marker for the identification of novel tumor suppressors as well as diagnostic and therapeutic targets in medulloblastomas.     

Leukemia in a Child with a History of Medulloblastoma

Leukemia of mixed lineage, was diagnosed in a 6.5-year-old boy with a history of medulloblastoma, 38 months after his initial cancer diagnosis. Therapy had included craniospinal radiation and nitrosourea-based chemotherapy. In addition, onset of leukemia was preceded by therapy with recombinant growth hormone for short stature. Although rare, leukemia is a treatment-related complication for patients with past brain tumors whose follow-up should therefore include surveillance with complete blood counts.