PLoS ONE (Jan 2015)

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-Rivera,
  • Blanca Espinet,
  • Lourdes Florensa

DOI
https://doi.org/10.1371/journal.pone.0129375
Journal volume & issue
Vol. 10, no. 6
p. e0129375

Abstract

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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.