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Title: Trisomy 8, A Cytogenetic Abnormality In Myelodysplastic Syndromes, Is Constitutional Or Not?
Author: Saumell, Sílvia
Solé Ristol, Francesc
Arenillas Rocha, Leonor
Montoro, Julia
Valcárcel, David
Pedro, Carme
Sanzo, Carmen
Luño, Elisa
Giménez, Teresa
Arnan, Montserrat
Pomares, Helena
Paz, Raquel de
Arrizabalaga, Beatriz
Jerez, Andrés
Marténez, Ana B.
Sánchez Castro, Judith
Rodríguez Gambarte, Juan D.
Raya, José Maria
Ríos, Eduardo
Rodríguez Rivera, María
Espinet Solà, Blanca
Florensa, Lourdes
Keywords: Leucèmia mieloide
Myeloid leukemia
Issue Date: 12-Jun-2015
Publisher: Public Library of Science (PLoS)
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.
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It is part of: PLoS One, 2015, vol. 10, num. 6, p. e0129375
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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