BACKGROUND: Conventional karyotype has an established role in myelodysplastic syndrome (MDS) and is included in the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Although some chromosomal abnormalities have been well characterized, the significance of several miscellaneous, infrequent, single chromosomal abnormalities remains to be defined. In addition, the emerging therapeutic agents may change the natural course of disease in patients with MDS and the cytogenetic impact on risk stratification. METHODS: Clinicopathologic data were retrieved on 1029 patients who had a diagnosis of primary MDS and had available cytogenetic data (karyotype) on file. RESULTS: Cytogenetic abnormalities were identified in 458 patients (45%) and occurred most frequently in patients who had refractory anemia with excess blasts (62%). Overall, the 3 cytogenetic risk groups defined by the IPSS -- good, intermediate, and poor -- effectively stratified the patients' overall survival (OS) (64 months, 31 months, and 12 months, respectively; P < .001). With the exception of gain of chromosome 8, single cytogenetic abnormalities within the intermediate group were extremely infrequent in the series but demonstrated variable OS ranging from 10 months for patients who had isochromosome (17q) to 69 months for patients who had deletion of 12p [del(12p)], suggesting different prognostic significance. In the poor cytogenetic risk group, patients with isolated del(7q) and derivative (1;7)(q10;p10) had a significantly better median OS than patients who had either loss of chromosome 7 or a complex karyotype (P < .05). CONCLUSIONS: The current data generated from a large cohort of patients with primary MDS indicated that some specific cytogenetic abnormalities carry different risk than their IPSS cytogenetic risk-group assignment, especially in the new treatment era. Because of the extreme low frequency, additional combined studies are needed to better categorize some rare single cytogenetic abnormalities within the intermediate cytogenetic risk group.
BACKGROUND: Conventional karyotype has an established role in myelodysplastic syndrome (MDS) and is included in the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Although some chromosomal abnormalities have been well characterized, the significance of several miscellaneous, infrequent, single chromosomal abnormalities remains to be defined. In addition, the emerging therapeutic agents may change the natural course of disease in patients with MDS and the cytogenetic impact on risk stratification. METHODS: Clinicopathologic data were retrieved on 1029 patients who had a diagnosis of primary MDS and had available cytogenetic data (karyotype) on file. RESULTS: Cytogenetic abnormalities were identified in 458 patients (45%) and occurred most frequently in patients who had refractory anemia with excess blasts (62%). Overall, the 3 cytogenetic risk groups defined by the IPSS -- good, intermediate, and poor -- effectively stratified the patients' overall survival (OS) (64 months, 31 months, and 12 months, respectively; P < .001). With the exception of gain of chromosome 8, single cytogenetic abnormalities within the intermediate group were extremely infrequent in the series but demonstrated variable OS ranging from 10 months for patients who had isochromosome (17q) to 69 months for patients who had deletion of 12p [del(12p)], suggesting different prognostic significance. In the poor cytogenetic risk group, patients with isolated del(7q) and derivative (1;7)(q10;p10) had a significantly better median OS than patients who had either loss of chromosome 7 or a complex karyotype (P < .05). CONCLUSIONS: The current data generated from a large cohort of patients with primary MDS indicated that some specific cytogenetic abnormalities carry different risk than their IPSS cytogenetic risk-group assignment, especially in the new treatment era. Because of the extreme low frequency, additional combined studies are needed to better categorize some rare single cytogenetic abnormalities within the intermediate cytogenetic risk group.
Authors: Ramon V Tiu; Lukasz P Gondek; Christine L O'Keefe; Paul Elson; Jungwon Huh; Azim Mohamedali; Austin Kulasekararaj; Anjali S Advani; Ronald Paquette; Alan F List; Mikkael A Sekeres; Michael A McDevitt; Ghulam J Mufti; Jaroslaw P Maciejewski Journal: Blood Date: 2011-02-01 Impact factor: 22.113
Authors: Guilin Tang; Liping Zhang; Bin Fu; Jianhua Hu; Xinyan Lu; Shimin Hu; Ankita Patel; Maitrayee Goswami; Joseph D Khoury; Guillermo Garcia-Manero; L Jeffrey Medeiros; Sa A Wang Journal: Am J Hematol Date: 2014-05-16 Impact factor: 10.047
Authors: Emilia J Kozyra; Gudrun Göhring; Dennis D Hickstein; Katherine R Calvo; Courtney D DiNardo; Michael Dworzak; Valerie de Haas; Jan Starý; Henrik Hasle; Akiko Shimamura; Mark D Fleming; Hiroto Inaba; Sara Lewis; Amy P Hsu; Steven M Holland; Danielle E Arnold; Cristina Mecucci; Siobán B Keel; Alison A Bertuch; Kiran Tawana; Shlomit Barzilai; Shinsuke Hirabayashi; Masahiro Onozawa; Shaohua Lei; Helena Alaiz; Hajnalka Andrikovics; David Betts; Berna H Beverloo; Jochen Buechner; Martin Čermák; José Cervera; Olga Haus; Kirsi Jahnukainen; Kalliopi N Manola; Karin Nebral; Francesco Pasquali; Joelle Tchinda; Dominik Turkiewicz; Nadine Van Roy; Zuzana Zemanova; Victor B Pastor; Brigitte Strahm; Peter Noellke; Charlotte M Niemeyer; Brigitte Schlegelberger; Ayami Yoshimi; Marcin W Wlodarski Journal: Blood Date: 2021-12-09 Impact factor: 22.113
Authors: Julie Schanz; Heinz Tüchler; Francesc Solé; Mar Mallo; Elisa Luño; José Cervera; Isabel Granada; Barbara Hildebrandt; Marilyn L Slovak; Kazuma Ohyashiki; Christian Steidl; Christa Fonatsch; Michael Pfeilstöcker; Thomas Nösslinger; Peter Valent; Aristoteles Giagounidis; Carlo Aul; Michael Lübbert; Reinhard Stauder; Otto Krieger; Guillermo Garcia-Manero; Stefan Faderl; Sherry Pierce; Michelle M Le Beau; John M Bennett; Peter Greenberg; Ulrich Germing; Detlef Haase Journal: J Clin Oncol Date: 2012-02-13 Impact factor: 44.544
Authors: Syed A Mian; Alexander E Smith; Austin G Kulasekararaj; Aytug Kizilors; Azim M Mohamedali; Nicholas C Lea; Konstantinos Mitsopoulos; Kevin Ford; Erick Nasser; Thomas Seidl; Ghulam J Mufti Journal: Haematologica Date: 2013-01-08 Impact factor: 9.941