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1.
Pediatr Blood Cancer ; 67(2): e28089, 2020 02.
Article in English | MEDLINE | ID: mdl-31724795

ABSTRACT

Intracranial germ cell tumors (GCT) account for less than 5% of all central nervous system tumors in children in Western countries. Approximately 40% are nongerminomatous GCT (NGGCT). Despite correct treatment, 16% to 47% of the patients will relapse. There are no standard approaches in case of recurrence, and treatment in this situation remains a challenge. We report three patients diagnosed with relapsed intracranial NGGCT treated with gemcitabine, paclitaxel, and oxaliplatin, in whom the tumor showed a remarkable response with normalization of tumor markers.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Brain Neoplasms/drug therapy , Drug Resistance, Neoplasm/drug effects , Neoplasm Recurrence, Local/drug therapy , Neoplasms, Germ Cell and Embryonal/drug therapy , Salvage Therapy , Testicular Neoplasms/drug therapy , Adolescent , Brain Neoplasms/pathology , Child , Deoxycytidine/administration & dosage , Deoxycytidine/analogs & derivatives , Humans , Male , Neoplasm Recurrence, Local/pathology , Neoplasms, Germ Cell and Embryonal/pathology , Oxaliplatin/administration & dosage , Paclitaxel/administration & dosage , Prognosis , Testicular Neoplasms/pathology , Gemcitabine
2.
Eur J Med Genet ; 51(3): 268-71, 2008.
Article in English | MEDLINE | ID: mdl-18396123

ABSTRACT

We present a 3-year-old boy affected with Hunter syndrome. When we first evaluated the patient glycosaminoglycans (GAG) in urine were elevated (94.6 ng/nmol/creatinine); the enzyme activity determined in serum was decreased (3.9 nmol/hxml) and the mutation found was N350H, exon 8. His clinical signs were coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbow stiffness and hypospadias; dilatation of the perivascular spaces and white matter abnormalities, mitral regurgitation. After two weeks on enzyme replacement therapy (ERT) with idursulfase (IDS), the excretion of GAG was decreased to 36.2 ng/nmol/creatinine and the liver and spleen volumes were reduced to normal limits. He was subsequently noted to have a softer, finer skin, he had no further bouts of bronchitis, and his physical activity improved. This indicates that IDS in young children is well tolerated and that it has several effects which may confer clinical benefits with long-term therapy.


Subject(s)
Iduronate Sulfatase/therapeutic use , Mucopolysaccharidosis II/drug therapy , Child, Preschool , Humans , Male
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