Myelodysplastic syndrome (MDS) with isolated trisomy 8: a type of MDS frequently associated with myeloproliferative features? A report by the Groupe Francophone des Myélodysplasies. (13th July 2018)

• Record Type: Journal Article
• Authors: Drevon, Louis; Marceau, Alice; Maarek, Odile; Cuccuini, Wendy; Clappier, Emmanuelle; Eclache, Virginie; Cluzeau, Thomas; Richez, Valentine; Berkaoui, Inès; Dimicoli‐Salazar, Sophie; Bidet, Audrey; Vial, Jean‐Philippe; Park, Sophie; Vieira Dos Santos, Christina; Kaphan, Eléonore; Berthon, Céline; Stamatoullas, Aspasia; Delhommeau, François; Abermil, Nassera; Braun, Thorsten; Sapena, Rosa; Lusina, Daniel; Renneville, Aline; Adès, Lionel; Raynaud, Sophie; Fenaux, Pierre
• Is Part Of: British journal of haematology. Volume 182:Number 6(2018)
• Page Start: 843
• Page End: 850
• Publication Date: 2018-07-13
• Subjects: myelodysplastic syndromes -- myelodysplastic‐myeloproliferative diseases -- trisomy 8; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.15490
• Languages: English
• ISSNs: 0007-1048

Abstract

Summary: Isolated trisomy 8 (+8) is a frequent cytogenetic abnormality in the myelodysplastic syndromes (MDS), but its characteristics are poorly reported. We performed a retrospective study of 138 MDS patients with isolated +8, classified or reclassified as MDS (excluding MDS/myeloproliferative neoplasm). Myeloproliferative (MP) features were defined by the repeated presence of one of the following: white blood cell count >10 × 10 9 /l, myelemia (presence of circulating immature granulocytes with a predominance of more mature forms) >2%, palpable splenomegaly. Fifty‐four patients (39·1%) had MP features: 28 at diagnosis, 26 were acquired during evolution. MP forms had more EZH2 (33·3% vs. 12·0% in non‐MP, P = 0·047), ASXL1 (66·7% vs. 42·3%, P = 0·048) and STAG2 mutations (77·8% vs. 21·7%, P = 0·006). Median event‐free survival (EFS) and overall survival (OS) were 25 and 27 months for patients with MP features at diagnosis, versus 28 ( P = 0·15) and 39 months ( P = 0·085) for those without MP features, respectively. Among the 57 patients who received hypomethylating agent (HMA), OS was lower in MP cases (13 months vs. 23 months in non‐MP cases, P = 0.02). In conclusion, MP features are frequent in MDS with isolated +8. MP forms had more EZH2, ASXL1 and STAG2 mutations, responded poorly to HMA, and tended to have poorer survival than non‐MP forms.