Saumell, SilviaSolé Ristol, FrancescArenillas Rocha, LeonorMontoro, JuliaValcárcel, DavidPedro Olive, CarmeSanzo, CarmenLuño, ElisaGiménez, TeresaArnan, MontserratPomares, HelenaDe Paz, RaquelArrizabalaga, BeatrizJerez, AndrésMartínez, Ana B.Sánchez-Castro, JudithRodríguez-Gambarte, Juan D.Raya, José M.Ríos, EduardoRodríguez-Rivera, MaríaEspinet Solà, BlancaFlorensa Brichs, Lourdes2015-10-062015-10-062015Saumell 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.0129375.1932-6203http://hdl.handle.net/10230/24804Isolated 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.application/pdfeng: © 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.TumorsLeucèmiainfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1371/journal.pone.0129375info:eu-repo/semantics/openAccess