{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T09:35:04Z","timestamp":1779183304538,"version":"3.51.4"},"reference-count":44,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,7,1]]},"abstract":"<jats:sec>\n                  <jats:title>OBJECTIVES<\/jats:title>\n                  <jats:p>The pathological entity of primitive neuroectodermal tumour\/medulloblastoma (PNET\/MB) comprises a very heterogeneous group of neoplasms on a clinical as well as on a molecular level. We evaluated the importance of DNA amplification in medulloblastomas and other primitive neuroectodermal tumours (PNETs) of the CNS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec sec-type=\"methods\">\n                  <jats:title>METHOD<\/jats:title>\n                  <jats:p>Restriction landmark genomic scanning (RLGS), a method that allows the detection of low level amplification, was used. RLGS provides direct access to DNA sequences circumventing positional cloning efforts. Furthermore, we analysed several samples by CGH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>DESIGN<\/jats:title>\n                  <jats:p>Twenty primary medulloblastomas, five supratentorial PNETs, and five medulloblastoma cell lines were studied.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>Although our analysis confirms that gene amplification is generally a rare event in childhood PNET\/MB, we found a total of 17 DNA fragments that were amplified in seven different tumours. Cloning and sequencing of several of these fragments confirmed the previous finding of<jats:italic>MYC<\/jats:italic> amplification in the cell line D341 Med and identified novel DNA sequences amplified in PNET\/MB. We describe for the first time amplification of the novel gene,<jats:italic>NAG, <\/jats:italic>in a subset of PNET\/MB. Despite genomic amplification, <jats:italic>NAG<\/jats:italic> was not overexpressed in the tumours studied. We have determined that<jats:italic>NAG<\/jats:italic> maps less than 50 kb 5\u2032 of<jats:italic>DDX1<\/jats:italic> and approximately 400 kb telomeric of<jats:italic>MYCN<\/jats:italic> on chromosome 2p24.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSION<\/jats:title>\n                  <jats:p>We found a similar but slightly higher frequency of amplification than previously reported. We present several DNA fragments that may belong to the CpG islands of novel genes amplified in a small subset of PNET\/MB. As an example we describe for the first time the amplification of<jats:italic>NAG<\/jats:italic> in the <jats:italic>MYCN<\/jats:italic>amplicon in PNET\/MB.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.37.7.501","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"501-509","source":"Crossref","is-referenced-by-count":39,"title":["Gene amplification in PNETs\/medulloblastomas: mapping of a novel amplified gene within the <i>MYCN<\/i> amplicon"],"prefix":"10.1136","volume":"37","author":[{"given":"Michael C","family":"Fr\u00fchwald","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M Sue","family":"O'Dorisio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura J","family":"Rush","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill 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