TY - JOUR
T1 - Bone marrow morphology predicts additional chromosomal abnormalities in patients with myelodysplastic syndrome with del(5q)
AU - Geyer, Julia Turbiner
AU - Verma, Shalini
AU - Mathew, Susan
AU - Wang, Y. Lynn
AU - Racchumi, Joelle
AU - Espinal-Witter, Rosanny
AU - Subramaniyam, Shivakumar
AU - Knowles, Daniel M.
AU - Orazi, Attilio
N1 - Copyright © 2013 Elsevier Inc. All rights reserved.
PY - 2013/3
Y1 - 2013/3
N2 - The current World Health Organization classification considers myelodysplastic syndrome with isolated del(5q) a distinct entity owing to its characteristic clinical and pathologic features. Recently, several studies have examined survival, leukemic transformation, and various prognostic factors in these patients. However, there is a lack of detailed comparative pathologic analysis of myelodysplastic syndrome cases in which del(5q) is present in association with additional cytogenetic abnormalities. We studied 26 cases of myelodysplastic syndrome at initial diagnosis with 5q - alone, 5q - plus 1 additional abnormality, and 5q - as part of a complex karyotype. Four of 17 patients had evidence of JAK2 V617F mutation. In contrast to cases of myelodysplastic syndrome with isolated 5q-, patients with additional abnormalities had normal mean corpuscular volume and decreased platelet counts (P <.001). Based on bone marrow examination, they were significantly more likely to have increased cellularity, trilineage dysplasia, lower proportion of small hypolobated megakaryocytes, higher number of blasts, and fibrosis. The presence of these morphologic features can be used to distinguish these more aggressive cases from those with myelodysplastic syndrome with isolated 5q - and a more benign clinical course.
AB - The current World Health Organization classification considers myelodysplastic syndrome with isolated del(5q) a distinct entity owing to its characteristic clinical and pathologic features. Recently, several studies have examined survival, leukemic transformation, and various prognostic factors in these patients. However, there is a lack of detailed comparative pathologic analysis of myelodysplastic syndrome cases in which del(5q) is present in association with additional cytogenetic abnormalities. We studied 26 cases of myelodysplastic syndrome at initial diagnosis with 5q - alone, 5q - plus 1 additional abnormality, and 5q - as part of a complex karyotype. Four of 17 patients had evidence of JAK2 V617F mutation. In contrast to cases of myelodysplastic syndrome with isolated 5q-, patients with additional abnormalities had normal mean corpuscular volume and decreased platelet counts (P <.001). Based on bone marrow examination, they were significantly more likely to have increased cellularity, trilineage dysplasia, lower proportion of small hypolobated megakaryocytes, higher number of blasts, and fibrosis. The presence of these morphologic features can be used to distinguish these more aggressive cases from those with myelodysplastic syndrome with isolated 5q - and a more benign clinical course.
KW - Adult
KW - Aged
KW - Aged, 80 and over
KW - Antineoplastic Agents/therapeutic use
KW - Bone Marrow/pathology
KW - Cell Transformation, Neoplastic/genetics
KW - Chromosome Aberrations
KW - Chromosomes, Human, Pair 5/genetics
KW - Female
KW - Humans
KW - Immunohistochemistry
KW - In Situ Hybridization, Fluorescence
KW - Janus Kinase 2/genetics
KW - Kaplan-Meier Estimate
KW - Karyotyping
KW - Lenalidomide
KW - Male
KW - Middle Aged
KW - Myelodysplastic Syndromes/drug therapy
KW - Prognosis
KW - Sequence Deletion
KW - Thalidomide/analogs & derivatives
UR - http://www.scopus.com/inward/record.url?scp=84873711387&partnerID=8YFLogxK
UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=purepublist2023&SrcAuth=WosAPI&KeyUT=WOS:000315126300006&DestLinkType=FullRecord&DestApp=WOS
U2 - 10.1016/j.humpath.2012.05.022
DO - 10.1016/j.humpath.2012.05.022
M3 - Article
C2 - 22995330
SN - 0046-8177
VL - 44
SP - 346
EP - 356
JO - Human Pathology
JF - Human Pathology
IS - 3
ER -