Trisomy 8, a cytogenetic abnormality in myelodysplastic syndromes, is constitutional or not?

Sílvia Saumell, Francesc Solé, Leonor Arenillas, Julia Montoro, David Valcárcel, Carme Pedro, Carmen Sanzo, Elisa Luño, Teresa Giménez, Montserrat Arnan, Helena Pomares, Raquel De Paz, Beatriz Arrizabalaga, Andrés Jerez, Ana B. Martínez, Judith Sánchez-Castro, Juan D. Rodríguez-Gambarte, José M. Raya, Eduardo Ríos, María Rodríguez-RiveraBlanca Espinet, Lourdes Florensa

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)


© 2015 Saumell et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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.
Original languageEnglish
Article number0129375
JournalPLoS ONE
Issue number6
Publication statusPublished - 12 Jun 2015


Dive into the research topics of 'Trisomy 8, a cytogenetic abnormality in myelodysplastic syndromes, is constitutional or not?'. Together they form a unique fingerprint.

Cite this