Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.

Retinoblastoma is the most common primary intraocular malignancy in children. Two step inactivation of RB1 (M1-M2) represents the key event in the pathogenesis of retinoblastoma but additional genetic and epigenetic events (M3-Mn) are required for tumor development. In the present study, we employed Methylation Specific Multiplex Ligation Probe Assay to investigate methylation status and copy number changes of 25 and 39 oncosuppressor genes, respectively.

Superselective ophthalmic artery infusion of melphalan for intraocular retinoblastoma: preliminary results from 140 treatments.

Purpose: To report our experience in superselective ophthalmic artery infusion of melphalan (SOAIM) for intraocular retinoblastoma.

Methods:   From June 2008 to October 2010, 38 patients (18 women, 20 men; age range at first treatment, 7 months to 22 years) with 41 eyes with retinoblastoma were scheduled for SOAIM, for 17 newly diagnosed retinoblastomas Tumour, Node and Metastasis (TNM) 7th Edition 1a (n = 1), 1b (n = 1), 2a (n = 7), 2b (n = 4) and 3a (n = 4) and 24 retinoblastomas with partial remission/relapse TNM 7th Edition 1b (n = 13), 2a (n = 1) and 2b (n = 10). Eight patients (ten eyes) have been treated by SOAIM alone.

Neurological presentation of Hodgkin lymphoma in the Italian Association of Pediatric Hematology and Oncology LH-2004 protocol.

Neurological symptoms can represent the first clinical manifestation of central nervous system (CNS) involvement in Hodgkin lymphoma (HL). Because of its rarity, it is often misunderstood for other pathological processes. We report two cases of pediatric CNS HL, presenting with neurological symptoms at diagnosis.

Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.

We report the case of a child with clinical and haematological features indicative of juvenile myelomonocytic leukaemia (JMML). The patient showed dysmorphic features: high forehead, bilateral epicanthal folds, long eyebrows, low nasal bridge and slightly low-set ears. A 38G>A (G13D) mutation in exon 1 of the NRAS gene was first demonstrated on peripheral blood cells, and then confirmed on granulocyte-macrophage colony-forming units.

Hypereosinophilic syndrome in childhood: clinical and molecular features of two cases.

Hypereosinophilic syndrome (HES) represents a heterogeneous group of diseases, some of which are being clarified by recent advances in molecular genetics. It is very rare in children. Uncertainties in classification and lack of prospective studies make therapeutic decisions difficult.

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.

Objective: Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently expressed and combined symptoms, as well as a subtle skin defect.

Materials And Methods: A 6-year-old male with apparently isolated mental delay, speech delay, attention deficit/hyperactivity disorder, epilepsy, and subtle and insignificant skin dyschromias. The patient underwent a systematic evaluation, including clinical history; medical, neurological and ophthalmologic examinations.

Polydactyly with ectodermal defect, osteopenia, and mental delay.

Five members from 3 generations, including a 35-year-old woman and her 2 sons, both mentally impaired to a different degree, were studied in a tertiary care hospital. Anamnestic, clinical, neurological, and radiological evaluations were used to describe phenotypes. A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail-teeth dysplasia, (3) osteopenia, and (4) mental delay.

Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration.

Background: Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration, occurs usually as a sporadic disorder with onset in childhood. The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations.