title: Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?
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.
authors.affiliation: Laboratori de Citologia Hematològica i Citogenètica 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 Autònoma de Barcelona, Bellaterra, Spain.
authors.forename: Sílvia
authors.initials: S
authors.lastname: Saumell
authors.affiliation: Institut de Recerca Contra la Leucèmia Josep Carreras, Cytogenetics Platform, Badalona, Spain.
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.affiliation: Laboratori de Citologia Hematològica i Citogenètica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain.
authors.forename: Leonor
authors.initials: L
authors.lastname: Arenillas
authors.affiliation: Servicio de Hematología, Hospital Vall d'Hebrón, Barcelona, Spain.
authors.forename: Julia
authors.initials: J
authors.lastname: Montoro
authors.affiliation: Servicio de Hematología, Hospital Vall d'Hebrón, Barcelona, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Valcárcel
authors.affiliation: GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain; Servei de Hematologia Clínica, Hospital del Mar, Barcelona, Spain.
authors.forename: Carme
authors.initials: C
authors.lastname: Pedro
authors.affiliation: Servicio de Hematología, Hospital Central de Asturias, Oviedo, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Sanzo
authors.affiliation: Servicio de Hematología, Hospital Central de Asturias, Oviedo, Spain.
authors.forename: Elisa
authors.initials: E
authors.lastname: Luño
authors.affiliation: Servei d'Hematologia, Hospital Universitari Joan XXIII, Tarragona, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Giménez
authors.affiliation: Servei d'Hematologia, Hospital Duran i Reynals, Institut Català d'Oncologia, L'Hospitalet del Llobregat, Spain.
authors.forename: Montserrat
authors.initials: M
authors.lastname: Arnan
authors.affiliation: Servei d'Hematologia, Hospital Duran i Reynals, Institut Català d'Oncologia, L'Hospitalet del Llobregat, Spain.
authors.forename: Helena
authors.initials: H
authors.lastname: Pomares
authors.affiliation: Servicio de Hematología, Hospital Universitario de La Paz, Madrid, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: De Paz
authors.affiliation: Servicio de Hematologia, Hospital Universitario de Cruces, Baracaldo, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Arrizabalaga
authors.affiliation: Servicio de Hematología, Hospital Morales Meseguer, Murcia, Spain.
authors.forename: Andrés
authors.initials: A
authors.lastname: Jerez
authors.affiliation: Servicio de Hematología, Hospital Morales Meseguer, Murcia, Spain.
authors.forename: Ana B
authors.initials: AB
authors.lastname: Martínez
authors.affiliation: Servei d' Hematologia, Hospital Universitari Arnau de Vilanova, Lleida, Spain.
authors.forename: Judith
authors.initials: J
authors.lastname: Sánchez-Castro
authors.affiliation: Servicio de Hematología, Hospital Universitario Ramon y Cajal, Madrid, Spain.
authors.forename: Juan D
authors.initials: JD
authors.lastname: Rodríguez-Gambarte
authors.affiliation: Servicio de Hematología, Hospital Universitario de Canarias, La Laguna,Tenerife, Spain.
authors.forename: José M
authors.initials: JM
authors.lastname: Raya
authors.affiliation: Sevicio de Hematologia, Hospital Universitario de Valme, Sevilla, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ríos
authors.affiliation: Laboratori de Citologia Hematològica i Citogenètica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Rodríguez-Rivera
authors.affiliation: Laboratori de Citologia Hematològica i Citogenètica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain.
authors.forename: Blanca
authors.initials: B
authors.lastname: Espinet
authors.affiliation: Laboratori de Citologia Hematològica i Citogenètica Molecular, Servei de Patologia, Hospital del Mar, Barcelona, Spain; GRETNHE, Cancer Research Program, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain.
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
mesh_terms: D016022:Case-Control Studies; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*