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Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?
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, spec...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466575/ https://www.ncbi.nlm.nih.gov/pubmed/26066831 http://dx.doi.org/10.1371/journal.pone.0129375 |
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author | Saumell, Sílvia Solé, Francesc Arenillas, Leonor Montoro, Julia Valcárcel, David Pedro, Carme Sanzo, Carmen Luño, Elisa Giménez, Teresa Arnan, Montserrat Pomares, Helena De Paz, Raquel Arrizabalaga, Beatriz Jerez, Andrés Martínez, Ana B. Sánchez-Castro, Judith Rodríguez-Gambarte, Juan D. Raya, José M. Ríos, Eduardo Rodríguez-Rivera, María Espinet, Blanca Florensa, Lourdes |
author_facet | Saumell, Sílvia Solé, Francesc Arenillas, Leonor Montoro, Julia Valcárcel, David Pedro, Carme Sanzo, Carmen Luño, Elisa Giménez, Teresa Arnan, Montserrat Pomares, Helena De Paz, Raquel Arrizabalaga, Beatriz Jerez, Andrés Martínez, Ana B. Sánchez-Castro, Judith Rodríguez-Gambarte, Juan D. Raya, José M. Ríos, Eduardo Rodríguez-Rivera, María Espinet, Blanca Florensa, Lourdes |
author_sort | Saumell, Sílvia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4466575 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-44665752015-06-22 Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? Saumell, Sílvia Solé, Francesc Arenillas, Leonor Montoro, Julia Valcárcel, David Pedro, Carme Sanzo, Carmen Luño, Elisa Giménez, Teresa Arnan, Montserrat Pomares, Helena De Paz, Raquel Arrizabalaga, Beatriz Jerez, Andrés Martínez, Ana B. Sánchez-Castro, Judith Rodríguez-Gambarte, Juan D. Raya, José M. Ríos, Eduardo Rodríguez-Rivera, María Espinet, Blanca Florensa, Lourdes PLoS One Research Article 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. Public Library of Science 2015-06-12 /pmc/articles/PMC4466575/ /pubmed/26066831 http://dx.doi.org/10.1371/journal.pone.0129375 Text en © 2015 Saumell et al http://creativecommons.org/licenses/by/4.0/ 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 properly credited. |
spellingShingle | Research Article Saumell, Sílvia Solé, Francesc Arenillas, Leonor Montoro, Julia Valcárcel, David Pedro, Carme Sanzo, Carmen Luño, Elisa Giménez, Teresa Arnan, Montserrat Pomares, Helena De Paz, Raquel Arrizabalaga, Beatriz Jerez, Andrés Martínez, Ana B. Sánchez-Castro, Judith Rodríguez-Gambarte, Juan D. Raya, José M. Ríos, Eduardo Rodríguez-Rivera, María Espinet, Blanca Florensa, Lourdes Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? |
title | Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? |
title_full | Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? |
title_fullStr | Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? |
title_full_unstemmed | Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? |
title_short | Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? |
title_sort | trisomy 8, a cytogenetic abnormality in myelodysplastic syndromes, is constitutional or not? |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466575/ https://www.ncbi.nlm.nih.gov/pubmed/26066831 http://dx.doi.org/10.1371/journal.pone.0129375 |
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