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We have treated six children with recurrent high-grade glioma after surgery, radiotherapy and chemotherapy, and one child with progressive teratoid/rhabdoid tumor with the combination of liposomal daunorubicin and carboplatin plus etoposide. Five out of seven children showed a major response and the 29 month progression-free survival was 38%.

Familial erythrophagocytic lymphohistiocytosis (FEL) is a rare disorder of the monocyte-macrophage system, for which an autosomal recessive mode of inheritance has been postulated. It is characterized by a dismal prognosis and is peculiar of early infancy. Three new cases of infants affected by FEL are reported. All three patients were diagnosed about three months after the onset of symptoms, and all three died shortly after diagnosis. The need for early diagnosis and prompt, intensive cytotoxic chemotherapy is emphasized.

We performed a retrospective study on clinical assessment, tumor location, radiological imaging, histopathological characteristics, and therapeutic management of 7 patients affected by choroid plexus carcinoma (CPC) or atypical choroid plexus papilloma (ACPP) who have been observed in the last 12 years.Four patients fulfilled the criteria for classification as ACPP and three cases as CPC. The median age of the patients at the diagnosis was 42 months (range 3-190 months). Except one older patient (15 years old), all patients were younger than 3 years of age. In all patients affected by ACPP, a total surgical resection was achieved. Two children relapsed 12 and 8 months following radical removal. Both of them underwent adjuvant chemotherapy (carboplatin, cyclophosphamide, etoposide, doxorubicin, and methotrexate); a complete remission was maintained in all cases. In all three patients with CPC, it was impossible to achieve complete resection at first surgery. The response to chemotherapy was variable: in one case, it was complete with complete remission following 6 months; in one case, it was partial with reduction on volume (the patient underwent second-look surgery with complete resection); in the third case, there was no response and the patient progressed and finally died with metastatic disease, 8 months after chemotherapy was started. For children with CPC, the OS was 75% at 6 years.In our series, surgery associated with chemotherapy led to long-term survival in 4/4 patients affected by ACPP and 2/3 patients affected by CPC. Clinical results achieved in our series confirm that our therapeutic regimen is feasible and efficient as a possible adjuvant treatment for both CPC and ACPP. It also suggests that surgery has a pivotal role in the management of most children affected by CPTs.

Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed.

Southern anal. of the MLL Locus in DNA from bone marrow cells samples from a 5-mo old child with acute lymphoblastic leukemiasampled at diagnosis revealed a rearrangement at locus MLL of chromosome 11q23. Panhandle PCR amplification of the fragment comprising the der(11) translocation breakpoints yielded a 4.6 kb fragment corresponding to the bamHI-rearranged fragment detected by Southern anal. The new fusion gene lacks both the AF4-derived and the MLL-derived (nucleotide 2772-3579) transactivating domain. The resulting fusion protein is able to bind DNA through the MLL-derived AT hook domain, and through the AF4-derived nuclear targeting sequence domain but could lose its capacity to activate the expression of these genes.