Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?

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  • dc.contributor.author Saumell, Silviaca
  • dc.contributor.author Solé Ristol, Francescca
  • dc.contributor.author Arenillas Rocha, Leonorca
  • dc.contributor.author Montoro, Juliaca
  • dc.contributor.author Valcárcel, Davidca
  • dc.contributor.author Pedro Olive, Carmeca
  • dc.contributor.author Sanzo, Carmenca
  • dc.contributor.author Luño, Elisaca
  • dc.contributor.author Giménez, Teresaca
  • dc.contributor.author Arnan, Montserratca
  • dc.contributor.author Pomares, Helenaca
  • dc.contributor.author De Paz, Raquelca
  • dc.contributor.author Arrizabalaga, Beatrizca
  • dc.contributor.author Jerez, Andrésca
  • dc.contributor.author Martínez, Ana B.ca
  • dc.contributor.author Sánchez-Castro, Judithca
  • dc.contributor.author Rodríguez-Gambarte, Juan D.ca
  • dc.contributor.author Raya, José M.ca
  • dc.contributor.author Ríos, Eduardoca
  • dc.contributor.author Rodríguez-Rivera, Maríaca
  • dc.contributor.author Espinet Solà, Blancaca
  • dc.contributor.author Florensa Brichs, Lourdesca
  • dc.date.accessioned 2015-10-06T09:18:10Z
  • dc.date.available 2015-10-06T09:18:10Z
  • dc.date.issued 2015
  • dc.description.abstract Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.ca
  • dc.description.sponsorship This work was supported by Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Spain (FI07/00107, CA08/00141; PI07/1009 and PI 11/02010); Red Temática de InvestigaciónCooperativa en Cáncer (RTICC, FEDER) (RD06/0020/0031 and RD07/0020/2004; RD12/0036/0044); SGR 541/2009 (“Agència de Gestió d’Ajuts Universitaris i de Recerca”, Departament d’Innovació, Universitats i Empresa); Acción COST BM0801: European Genetic and Epigentic Study on AML and MDS; Sociedad Española de Hematología y Hemoterapia (SEHH) 2011 and 2012 fellowships.
  • dc.format.mimetype application/pdfca
  • dc.identifier.citation Saumell S, Solé F, Arenillas L, Montoro J, Valcárcel D, Pedro C. et al. Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? PLoS One. 2015 Jun 12;10(6):e0129375. doi: 10.1371/journal.pone.0129375.ca
  • dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0129375
  • dc.identifier.issn 1932-6203
  • dc.identifier.uri http://hdl.handle.net/10230/24804
  • dc.language.iso engca
  • dc.publisher Public Library of Scienceca
  • dc.relation.ispartof PLoS One. 2015 Jun 12;10(6):e0129375
  • dc.rights : © 2015 Saumell et al. This is an open access article distributed under the terms of the http://creativecommons.org/licenses/by/4.0/, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.ca
  • dc.rights.accessRights info:eu-repo/semantics/openAccessca
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/ca
  • dc.subject.other Tumorsca
  • dc.subject.other Leucèmiaca
  • dc.title Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?ca
  • dc.type info:eu-repo/semantics/articleca
  • dc.type.version info:eu-repo/semantics/publishedVersionca