Clinical and biological significance of isolated Y chromosome loss in myelodysplastic syndromes and chronic myelomonocytic leukemia. A report from the Spanish MDS Group. (December 2017)

• Record Type: Journal Article
• Authors: Nomdedeu, Meritxell; Pereira, Arturo; Calvo, Xavier; Colomer, Joan; Sole, Francesc; Arias, Amparo; Gomez, Candida; Luño, Elisa; Cervera, Jose; Arnan, Montserrat; Pomares, Helena; Ramos, Fernando; Oiartzabal, Itziar; Espinet, Blanca; Pedro, Carme; Arrizabalaga, Beatriz; Blanco, María Laura; Tormo, Mar; Hernandez-Rivas, Jesus Maria; Díez-Campelo, María; Ortega, Margarita; Valcárcel, David; Cedena, Maria-Teresa; Collado, Rosa; Grau, Javier; Granada, Isabel; Sanz, Guillermo; Campo, Elias; Esteve, Jordi; Costa, Dolors
• Is Part Of: Leukemia research. Volume 63(2017:Dec.)
• Page Start: 85
• Page End: 89
• Publication Date: 2017-12
• Subjects: Loss of chromosome Y -- Prognosis -- MDS -- Karyotype -- IPSS-R; Leukemia -- Periodicals; Leukemia -- Periodicals; Leucémie -- Périodiques; Leukemia; Periodicals; Electronic journals; Electronic journals; 616.9941905
• DOI: 10.1016/j.leukres.2017.10.011
• Languages: English
• ISSNs: 0145-2126

Abstract

Highlights: The clinical significance of chromosome Y loss (-Y) in MDS has been controversial. Our study analyzes the largest series of MDS with isolated −Y reported up to now. MDS patients with −Y are older and have less bone marrow blasts at diagnosis. A reduced risk of leukemic transformation has been observed in the −Y group. The reduced risk of leukemia does not translate into a survival advantage. Abstract: Isolate loss of chromosome Y (-Y) in myelodysplastic syndromes (MDS) is associated to a better outcome but it is also well described as an age-related phenomenon. In this study we aimed to analyze the prognostic impact of −Y in the context of the IPSS-R cytogenetic classification, evaluate the clinical significance of the percentage of metaphases with isolated −Y, and test whether finding −Y may predispose to over-diagnose MDS in patients with borderline morphological features. We evaluated 3581 male patients from the Spanish MDS Registry with a diagnosis of MDS or chronic myelomonocytic leukemia (CMML). −Y was identified in 177 patients (4.9%). Compared with the 2246 male patients with normal karyotype, −Y group showed a reduced risk of leukemic transformation that did not translate into a survival advantage. The overall survival and the risk of leukemic transformation were not influenced by the percentage of metaphases with −Y. The −Y group was not enriched in patients with minor morphologic traits of dysplasia, suggesting that the better outcome in the −Y group cannot be explained by enrichment in cases misdiagnosed as MDS. In conclusion, our results support the current recommendation of classifying patients with −Y within the very good risk category of the IPSS-R for MDS and rule out a selection bias as a possible explanation of this better outcome. An analysis of the molecular basis of MDS with isolated −Y would be of interest as it may provide a biological basis of protection against progression to acute leukemia.