title: Clinicopathologic evaluation of cytopenic patients with isolated trisomy 8: a detailed comparison between idiopathic cytopenia of unknown significance and low-grade myelodysplastic syndrome.
abstract: The significance of an isolated trisomy 8 (+8) in the diagnosis of myelodysplastic syndrome (MDS) is not well established. It is common in MDS, but is not considered as an MDS-defining abnormality in the absence of morphologic dysplasia. We evaluated two groups of patients with isolated +8 and either low-grade MDS (LG-MDS) or idiopathic cytopenia of undetermined significance (ICUS). At presentation, ICUS patients had a lower platelet count (85.0 vs 163.5 × 109cells/L; p = 0.02), while MDS patients had more frequent incidence of isolated anemia (64% vs 0%, p = 0.007). A subset (36%) of ICUS patients progressed to MDS or AML. These patients presented with more severe neutropenia (0.9 vs 3.1 × 103/μL, p = 0.01) and a trend toward a higher proportion (>50%) of +8 metaphases compared to those that did not progress (p = 0.05). Thus, ICUS patients with isolated +8 may progress to MDS and AML and deserve close clinical follow-up.
authors.affiliation: a Department of Pathology and Laboratory Medicine , New York Presbyterian Hospital - Weill Cornell Medicine , New York , NY , USA.
authors.forename: Kseniya
authors.initials: K
authors.lastname: Petrova-Drus
authors.affiliation: b Department of Pathology , Massachusetts General Hospital , Boston , MA , USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Hasserjian
authors.affiliation: c Department of Pathology , Brigham and Women's Hospital , Boston , MA , USA.
authors.forename: Olga
authors.initials: O
authors.lastname: Pozdnyakova
authors.affiliation: d Center of Advanced Molecular Diagnostics , Brigham & Women's Hospital , Boston , MA , USA.
authors.forename: Paola
authors.initials: P
authors.lastname: Dal Cin
authors.affiliation: a Department of Pathology and Laboratory Medicine , New York Presbyterian Hospital - Weill Cornell Medicine , New York , NY , USA.
authors.forename: Susan
authors.initials: S
authors.lastname: Mathew
authors.affiliation: a Department of Pathology and Laboratory Medicine , New York Presbyterian Hospital - Weill Cornell Medicine , New York , NY , USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Margolskee
authors.affiliation: a Department of Pathology and Laboratory Medicine , New York Presbyterian Hospital - Weill Cornell Medicine , New York , NY , USA.
authors.forename: Attilio
authors.initials: A
authors.lastname: Orazi
authors.affiliation: a Department of Pathology and Laboratory Medicine , New York Presbyterian Hospital - Weill Cornell Medicine , New York , NY , USA.
authors.forename: Julia T
authors.initials: JT
authors.lastname: Geyer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D001772:Blood Cell Count; D001853:Bone Marrow / Q000378:metabolism; D002898:Chromosomes, Human, Pair 8; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000628:therapy; D010198:Pancytopenia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D014314:Trisomy; D055815:Young Adult
keywords: Idiopathic cytopenia of undetermined significance; isolated trisomy 8 (+8); myelodysplastic syndrome; myeloid neoplasms