{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T08:20:14Z","timestamp":1772698814273,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":5673,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Von Recklinghausen neurofibromatosis (NFI) is a common autosomal dominant disorder mapped to 17q 11.2 and typically characterized by the occurrence of neural crest\u2010derived tumors. The gene has recently been cloned using reverse genetics or \u201cpositional cloning\u201d approaches. Its function, however, remains unknown. We have performed cytogenetic and molecular analyses on 9 malignant tumors from NFI patients to look for loss of alleles or chromosome rearrangements involving chromosome 17 to test the hypothesis that the <jats:italic>NFI<\/jats:italic> gene acts as a recessive \u201ctumor suppressor\u201d gene. Loss of alleles on this chromosome was detected for 3 of 9 malignant tumors. Two peripheral nerve sheath tumors showed allele loss at informative loci on both the long and short arms of chromosome 17. In contrast, a glioblastoma with focal gliosarcoma showed loss of heterozygosity on the short arm of chromosome 17 only, and not at loci on the long arm. One nerve sheath tumor was previously shown by direct sequence analysis to have a point mutation at the <jats:italic>TP53<\/jats:italic> locus at 17p 13. These data support a role for the TP53 gene or other genes on the short arm of chromosome 17 in at least some malignancies in NFI. Six other neurofibrosarcomas showed no allele loss at informative loci on chromosome 17. Cytogenetic analysis was performed on 7 tumors, including 2 with allele loss. The two tumors with allele loss showed abnormal karyotypes while all others were normal. Southern blot and pulsed\u2010field gel analysis using probes within or closely linked to the <jats:italic>NFI<\/jats:italic> locus detected no gross deletions or rearrangements in the tumors studied. These data, together with those of others, show that loss of alleles on chromosome 17 in malignant tumors from NF I patients occurs in some tumors, but is not a consistent finding. Possible explanations for these findings in relation to <jats:italic>NFI<\/jats:italic> gene function are discussed.<\/jats:p>","DOI":"10.1002\/gcc.2870030111","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T22:52:17Z","timestamp":1172098337000},"page":"62-70","source":"Crossref","is-referenced-by-count":121,"title":["Molecular and cytogenetic analysis of tumors in von recklinghausen neurofibromatosis"],"prefix":"10.1002","volume":"3","author":[{"given":"Thomas W.","family":"Glover","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance K.","family":"Stein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Legius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lone B.","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Brereton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,14]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","unstructured":"AndersenLB WallaceMR MarchukDA CawthonRM OdehHM LetcherR WhiteRL CollinsFS(1991)A polymorphic cDNA probe on 17qll.2 located within the NF1 gene (D17S356) Nuc Acid Res(in press).","DOI":"10.1093\/nar\/19.1.197-a"},{"key":"e_1_2_1_3_1","first-page":"576","article-title":"Thirty new chromosome 17 DNA markers","volume":"46","author":"Barker D","year":"1987","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3107130"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(84)90081-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(88)90196-5"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90253-B"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"CawthonRM AndersenLB BuchbergAM XuG O'ConnellP ViscochilD WeissRB WallaceMR MarchukDA CulverM StevensJ JenkinsNA CopelandNG CollinsFS WhiteR(1991)cDNA sequence and genomic structure of EVI2B a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics(in press).","DOI":"10.1016\/0888-7543(91)90410-G"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00208923"},{"key":"e_1_2_1_10_1","first-page":"176","volume-title":"A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis","author":"Crowe FW","year":"1956"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.18.7186"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(87)90034-6"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2543076"},{"key":"e_1_2_1_14_1","unstructured":"FultsD TippetsRH ThomasGA NakamuraY WhiteR(1989) Loss of heterozygosity for loci on chromosome 17p in human malignant astrocytoma.Cancer Res6572\u20136577"},{"key":"e_1_2_1_15_1","first-page":"265","article-title":"Chromosome breakage and recombi nation at fragile sites","volume":"43","author":"Glover TW","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","first-page":"6","article-title":"Multipoint linkage analysis in neurofibromatosis type 1: An international collaboration","volume":"44","author":"Goldgar DE","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.2.781"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/343558a0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.8.2858"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.14.5435"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.12.5707"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.8.3598"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/342705a0"},{"key":"e_1_2_1_24_1","first-page":"51","article-title":"Fine structure DNA map ping studies of the chromosomal region harboring the genetic defect in neurofibromatosis Type I","volume":"44","author":"O'Connell P","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2543077"},{"key":"e_1_2_1_26_1","volume-title":"Phenotype, Natural History and Pathogenesis","author":"Riccardi VM","year":"1986"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280333"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90534-4"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(82)90100-3"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870010107"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198604173141603"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90252-A"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.15.5611"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.2870030111","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.2870030111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T22:06:29Z","timestamp":1698012389000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.2870030111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/gcc.2870030111"],"URL":"https:\/\/doi.org\/10.1002\/gcc.2870030111","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}