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Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases

1996; Wiley; Volume: 17; Issue: 2 Linguagem: Inglês

10.1002/(sici)1098-2264(199610)17

1098-2264

Laura Seghezzi, Emanuela Maserati, Antonella Minelli, Claudia Dellavecchia, Paola Addis, Franco Locatelli, Adriano Angioni, Pietro Balloni, C Miano, Pietro Cavalli, Cesare Danesino, Francesco Pasquali,

Cancer Genomics and Diagnostics

Genes, Chromosomes and CancerVolume 17, Issue 2 p. 94-101 Research Article Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases Laura Seghezzi, Laura Seghezzi Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorEmanuela Maserati, Emanuela Maserati Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy Centro di Genetica Clinica, Università di Sassari, Sassari, ItalySearch for more papers by this authorAntonella Minelli, Antonella Minelli Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorClaudia Dellavecchia, Claudia Dellavecchia Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorPaola Addis, Paola Addis Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorFranco Locatelli, Franco Locatelli Clinica Pediatrica, Università di Pavia, Pavia, ItalySearch for more papers by this authorAdriano Angioni, Adriano Angioni Servizio Immunotrasfusionale, Ospedale Pediatrico del Bambin Gesù, Roma, ItalySearch for more papers by this authorPietro Balloni, Pietro Balloni Servizio Immunotrasfusionale, Ospedale Pediatrico del Bambin Gesù, Roma, ItalySearch for more papers by this authorCrescenzo Miano, Crescenzo Miano Ematologia, Ospedale Pediatrico del Bambin Gesù, Roma, ItalySearch for more papers by this authorPietro Cavalli, Pietro Cavalli Servizio Trasfusionale, Ospedale di Cremona, Cremona, ItalySearch for more papers by this authorCesare Danesino, Cesare Danesino Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorFrancesco Pasquali, Corresponding Author Francesco Pasquali Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalyC.P. 217, I-27100 Pavia, ItalySearch for more papers by this author Laura Seghezzi, Laura Seghezzi Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorEmanuela Maserati, Emanuela Maserati Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy Centro di Genetica Clinica, Università di Sassari, Sassari, ItalySearch for more papers by this authorAntonella Minelli, Antonella Minelli Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorClaudia Dellavecchia, Claudia Dellavecchia Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorPaola Addis, Paola Addis Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorFranco Locatelli, Franco Locatelli Clinica Pediatrica, Università di Pavia, Pavia, ItalySearch for more papers by this authorAdriano Angioni, Adriano Angioni Servizio Immunotrasfusionale, Ospedale Pediatrico del Bambin Gesù, Roma, ItalySearch for more papers by this authorPietro Balloni, Pietro Balloni Servizio Immunotrasfusionale, Ospedale Pediatrico del Bambin Gesù, Roma, ItalySearch for more papers by this authorCrescenzo Miano, Crescenzo Miano Ematologia, Ospedale Pediatrico del Bambin Gesù, Roma, ItalySearch for more papers by this authorPietro Cavalli, Pietro Cavalli Servizio Trasfusionale, Ospedale di Cremona, Cremona, ItalySearch for more papers by this authorCesare Danesino, Cesare Danesino Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorFrancesco Pasquali, Corresponding Author Francesco Pasquali Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalyC.P. 217, I-27100 Pavia, ItalySearch for more papers by this author First published: October 1996 https://doi.org/10.1002/(SICI)1098-2264(199610)17:2 3.0.CO;2-WCitations: 45AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Three patients, with constitutional trisomy 8 mosaicism (CT8M), who developed a malignancy are reported. The diagnoses were refractory anaemia, acute lymphoblastic leukaemia, and idiopathic myelofibrosis. In the child with acute leukaemia, the CT8M was diagnosed at birth due to severe dysmorphisms and malformations; the other two patients showed a milder phenotype, and the CT8M was diagnosed only after the finding of trisomy 8 in neoplastic cells. The review of eight similar, previously reported cases and the clinical, cytogenetic, and molecular studies performed in our patients led us to make the following observations: (1) CT8M predisposes to neoplasms, preferentially to myelo- or lymphoproliferative diseases; (2) a gene dosage effect for glutathione reductase in red blood cells was seen in two of our patients; (3) the wide phenotypic variation of CT8M was confirmed: trisomy 8 in neoplastic cells of phenotypically near-normal cases may be misinterpreted as acquired; and (4) molecular studies suggested a postzygotic origin of the trisomy in our three cases, with the supernumerary chromosome being of paternal origin in one case and of maternal origin in the other two. We postulate that the trisomy 8 in neoplasms may often occur by mitotic nondisjunction in an early embryonic multipotent cell and that what is usually interpreted as an acquired trisomy 8 may in fact be CT8M. The constitutional trisomy 8 would act as a pathogenetically important first mutation in multistep carcinogenesis. Whenever trisomy 8 is found in malignancies, the patient should be reevaluated clinically to exclude CT8M, and CT8M patients should be monitored for the possible development of malignancies. Genes Chromosom Cancer 17:94–101 (1996). © 1996 Wiley-Liss, Inc. Citing Literature Volume17, Issue2October 1996Pages 94-101 RelatedInformation