Myelodysplastic syndrome (MDS) with isolated trisomy 8: a type of MDS frequently associated with myeloproliferative features? A report by the Groupe Francophone des Myélodysplasies
Louis Drevon
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorAlice Marceau
Centre Hospitalier Régional Universitaire (CHRU) de Lille, Lille, France
Search for more papers by this authorOdile Maarek
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorWendy Cuccuini
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorEmmanuelle Clappier
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorVirginie Eclache
Hôpital Avicenne, APHP, University Paris 13, Bobigny, France
Search for more papers by this authorThomas Cluzeau
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorValentine Richez
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorInès Berkaoui
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorChristina Vieira Dos Santos
CHU Grenoble Alpes, Grenoble, France
Search for more papers by this authorCéline Berthon
Centre Hospitalier Régional Universitaire (CHRU) de Lille, Lille, France
Search for more papers by this authorFrançois Delhommeau
Hôpital Saint-Antoine, APHP, University Pierre et Marie Curie (Paris 6), Paris, France
Search for more papers by this authorNassera Abermil
Hôpital Saint-Antoine, APHP, University Pierre et Marie Curie (Paris 6), Paris, France
Search for more papers by this authorThorsten Braun
Hôpital Avicenne, APHP, University Paris 13, Bobigny, France
Search for more papers by this authorRosa Sapena
GFM (Groupe Francophone des Myélodysplasies), Hôpital Saint-Louis, Paris, France
Search for more papers by this authorDaniel Lusina
Hôpital Avicenne, APHP, University Paris 13, Bobigny, France
Search for more papers by this authorAline Renneville
Centre Hospitalier Régional Universitaire (CHRU) de Lille, Lille, France
Search for more papers by this authorLionel Adès
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorSophie Raynaud
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorCorresponding Author
Pierre Fenaux
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Correspondence: Pierre Fenaux, Service d'Hématologie Clinique, Hôpital Saint-Louis/Université Paris Diderot, 1 Avenue Claude Vellefaux, 75475 Paris, France.
E-mail: [email protected]
Search for more papers by this authorLouis Drevon
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorAlice Marceau
Centre Hospitalier Régional Universitaire (CHRU) de Lille, Lille, France
Search for more papers by this authorOdile Maarek
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorWendy Cuccuini
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorEmmanuelle Clappier
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorVirginie Eclache
Hôpital Avicenne, APHP, University Paris 13, Bobigny, France
Search for more papers by this authorThomas Cluzeau
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorValentine Richez
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorInès Berkaoui
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorChristina Vieira Dos Santos
CHU Grenoble Alpes, Grenoble, France
Search for more papers by this authorCéline Berthon
Centre Hospitalier Régional Universitaire (CHRU) de Lille, Lille, France
Search for more papers by this authorFrançois Delhommeau
Hôpital Saint-Antoine, APHP, University Pierre et Marie Curie (Paris 6), Paris, France
Search for more papers by this authorNassera Abermil
Hôpital Saint-Antoine, APHP, University Pierre et Marie Curie (Paris 6), Paris, France
Search for more papers by this authorThorsten Braun
Hôpital Avicenne, APHP, University Paris 13, Bobigny, France
Search for more papers by this authorRosa Sapena
GFM (Groupe Francophone des Myélodysplasies), Hôpital Saint-Louis, Paris, France
Search for more papers by this authorDaniel Lusina
Hôpital Avicenne, APHP, University Paris 13, Bobigny, France
Search for more papers by this authorAline Renneville
Centre Hospitalier Régional Universitaire (CHRU) de Lille, Lille, France
Search for more papers by this authorLionel Adès
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Search for more papers by this authorSophie Raynaud
Centre Hospitalier Universitaire (CHU) de Nice, Nice, France
Search for more papers by this authorCorresponding Author
Pierre Fenaux
Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris (APHP), University Paris Diderot (Paris 7), Paris, France
Correspondence: Pierre Fenaux, Service d'Hématologie Clinique, Hôpital Saint-Louis/Université Paris Diderot, 1 Avenue Claude Vellefaux, 75475 Paris, France.
E-mail: [email protected]
Search for more papers by this authorSummary
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 × 109/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.
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