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Myelodysplastic syndrome ( MDS ) with isolated trisomy 8: a type of MDS frequently associated with myeloproliferative features? A report by the Groupe Francophone des Myélodysplasies
Author(s) -
Drevon Louis,
Marceau Alice,
Maarek Odile,
Cuccuini Wendy,
Clappier Emmanuelle,
Eclache Virginie,
Cluzeau Thomas,
Richez Valentine,
Berkaoui Inès,
DimicoliSalazar Sophie,
Bidet Audrey,
Vial JeanPhilippe,
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
Publication year - 2018
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.15490
Subject(s) - medicine , trisomy , myelodysplastic syndromes , trisomy 8 , gastroenterology , myeloproliferative neoplasm , myelofibrosis , bone marrow , cytogenetics , biology , chromosome , gene , genetics , biochemistry
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 EZH 2 (33·3% vs. 12·0% in non‐ MP , P = 0·047), ASXL 1 (66·7% vs. 42·3%, P = 0·048) and STAG 2 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 EZH 2 , ASXL 1 and STAG 2 mutations, responded poorly to HMA , and tended to have poorer survival than non‐ MP forms.