PMID- 26066831 OWN - NLM STAT- MEDLINE DCOM- 20160413 LR - 20181113 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 10 IP - 6 DP - 2015 TI - Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not? PG - e0129375 LID - 10.1371/journal.pone.0129375 [doi] LID - e0129375 AB - 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. FAU - Saumell, Silvia AU - Saumell S AD - Laboratori de Citologia Hematologica i Citogenetica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain; Department of Medicine, Medicine Faculty, Universitat Autonoma de Barcelona, Bellaterra, Spain. FAU - Sole, Francesc AU - Sole F AD - Institut de Recerca Contra la Leucemia Josep Carreras, Cytogenetics Platform, Badalona, Spain. FAU - Arenillas, Leonor AU - Arenillas L AD - Laboratori de Citologia Hematologica i Citogenetica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain. FAU - Montoro, Julia AU - Montoro J AD - Servicio de Hematologia, Hospital Vall d'Hebron, Barcelona, Spain. FAU - Valcarcel, David AU - Valcarcel D AD - Servicio de Hematologia, Hospital Vall d'Hebron, Barcelona, Spain. FAU - Pedro, Carme AU - Pedro C AD - GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain; Servei de Hematologia Clinica, Hospital del Mar, Barcelona, Spain. FAU - Sanzo, Carmen AU - Sanzo C AD - Servicio de Hematologia, Hospital Central de Asturias, Oviedo, Spain. FAU - Luno, Elisa AU - Luno E AD - Servicio de Hematologia, Hospital Central de Asturias, Oviedo, Spain. FAU - Gimenez, Teresa AU - Gimenez T AD - Servei d'Hematologia, Hospital Universitari Joan XXIII, Tarragona, Spain. FAU - Arnan, Montserrat AU - Arnan M AD - Servei d'Hematologia, Hospital Duran i Reynals, Institut Catala d'Oncologia, L'Hospitalet del Llobregat, Spain. FAU - Pomares, Helena AU - Pomares H AD - Servei d'Hematologia, Hospital Duran i Reynals, Institut Catala d'Oncologia, L'Hospitalet del Llobregat, Spain. FAU - De Paz, Raquel AU - De Paz R AD - Servicio de Hematologia, Hospital Universitario de La Paz, Madrid, Spain. FAU - Arrizabalaga, Beatriz AU - Arrizabalaga B AD - Servicio de Hematologia, Hospital Universitario de Cruces, Baracaldo, Spain. FAU - Jerez, Andres AU - Jerez A AD - Servicio de Hematologia, Hospital Morales Meseguer, Murcia, Spain. FAU - Martinez, Ana B AU - Martinez AB AD - Servicio de Hematologia, Hospital Morales Meseguer, Murcia, Spain. FAU - Sanchez-Castro, Judith AU - Sanchez-Castro J AD - Servei d' Hematologia, Hospital Universitari Arnau de Vilanova, Lleida, Spain. FAU - Rodriguez-Gambarte, Juan D AU - Rodriguez-Gambarte JD AD - Servicio de Hematologia, Hospital Universitario Ramon y Cajal, Madrid, Spain. FAU - Raya, Jose M AU - Raya JM AD - Servicio de Hematologia, Hospital Universitario de Canarias, La Laguna,Tenerife, Spain. FAU - Rios, Eduardo AU - Rios E AD - Sevicio de Hematologia, Hospital Universitario de Valme, Sevilla, Spain. FAU - Rodriguez-Rivera, Maria AU - Rodriguez-Rivera M AD - Laboratori de Citologia Hematologica i Citogenetica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain. FAU - Espinet, Blanca AU - Espinet B AD - Laboratori de Citologia Hematologica i Citogenetica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain. FAU - Florensa, Lourdes AU - Florensa L AD - Laboratori de Citologia Hematologica i Citogenetica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20150612 PL - United States TA - PLoS One JT - PloS one JID - 101285081 RN - Chromosome 8, trisomy SB - IM MH - Case-Control Studies MH - Chromosomes, Human, Pair 8/genetics MH - Humans MH - Myelodysplastic Syndromes/*genetics MH - Trisomy/*genetics PMC - PMC4466575 COIS- Competing Interests: The authors have declared that no competing interests exist. EDAT- 2015/06/13 06:00 MHDA- 2016/04/14 06:00 PMCR- 2015/06/12 CRDT- 2015/06/13 06:00 PHST- 2015/02/20 00:00 [received] PHST- 2015/05/07 00:00 [accepted] PHST- 2015/06/13 06:00 [entrez] PHST- 2015/06/13 06:00 [pubmed] PHST- 2016/04/14 06:00 [medline] PHST- 2015/06/12 00:00 [pmc-release] AID - PONE-D-15-06673 [pii] AID - 10.1371/journal.pone.0129375 [doi] PST - epublish SO - PLoS One. 2015 Jun 12;10(6):e0129375. doi: 10.1371/journal.pone.0129375. eCollection 2015.