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cc by (c) Saumell et al., 2015
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/125709

Trisomy 8, A Cytogenetic Abnormality In Myelodysplastic Syndromes, Is Constitutional Or Not?

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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.

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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 maría, RÍOS, Eduardo, RODRÍGUEZ RIVERA, María, ESPINET SOLÀ, Blanca, FLORENSA, Lourdes. Trisomy 8, A Cytogenetic Abnormality In Myelodysplastic Syndromes, Is Constitutional Or Not?. _PLoS One_. 2015. Vol. 10, núm. 6, pàgs. e0129375. [consulta: 23 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/125709]

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