A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma
| Autor: | Lauri A. Aaltonen, Tuija Hienonen, Heli Sammalkorpi, Rogier Versteeg, Pirjo Isohanni, R Karikoski |
|---|---|
| Přispěvatelé: | Faculteit der Geneeskunde, Cancer Center Amsterdam, Oncogenomics |
| Rok vydání: | 2005 |
| Předmět: |
Developmental Disabilities
Biology Germline Neuroblastoma 03 medical and health sciences 0302 clinical medicine Germline mutation Genetic linkage Intellectual Disability Genetics medicine Humans Abnormalities Multiple Family history Germ-Line Mutation Growth Disorders Genetics (clinical) Neoplasm Staging Sequence Deletion 030304 developmental biology 0303 health sciences Cancer Syndrome medicine.disease Smith–Magenis syndrome Penetrance 3. Good health Child Preschool 030220 oncology & carcinogenesis Cancer research Female Online Mutation Report sense organs Chromosomes Human Pair 17 |
| Zdroj: | Journal of Medical Genetics, 42(1). BMJ Publishing Group Journal of medical genetics, 42(1). BMJ Publishing Group |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmg.2004.022814 |
| Popis: | Neuroblastoma is the most frequently occurring extracranial tumour type in children. It arises from the undifferentiated neural crest derived cells destined to become the sympathetic nervous system, and primary tumours typically occur in the adrenal medulla and paraspinal location in the abdomen or chest. At diagnosis, most children of >1 year of age have metastases, commonly in lymph nodes, bones, or bone marrow. However, in addition to potential lethal progression, neuroblastomas occasionally mature into benign ganglioneuromas or spontaneously regress, even without treatment.1,2 Several acquired genetic changes have been described in neuroblastoma, the most frequent being MYCN oncogene amplification, 1p deletion, and 17q amplification.3 These alterations have been associated with aggressive forms of the disease; MYCN amplification in particular is used as a prognostic marker. In addition, chromosome number changes, translocations, and deletions in several other parts of the genome have been identified, but the significance of these changes needs further clarification. A small subset of neuroblastoma cases have a family history of the disease and are diagnosed at a younger age with multifocal primary tumours.4 Hence Knudson and Strong postulated that the two hit model of cancer initiation could be applied to neuroblastoma, and that the mode of inheritance was consistent with autosomal dominant Mendelian pattern with incomplete penetrance. Some linkage studies have been performed on familial neuroblastomas, and linkage to 4p16 and 16p12-13 has been suggested in families from Europe and North America, respectively.5,6 However, the chromosome 16p region was tested for linkage with negative results in Italian and British families.5–7 In addition, the known candidate neuroblastoma loci that are frequently altered sporadically have been excluded in some neuroblastoma families.5,7 Thus, despite extensive studies into neuroblastoma susceptibility, the putative predisposing genetic changes have remained unidentified, and additional analyses are … |
| Databáze: | OpenAIRE |
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