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Journal articles
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.
Jean Donadieu
1
Odile Fenneteau
2
Blandine Beaupain
1
Sandrine Beaufils
3
Florence Bellanger
3
Nizar Mahlaoui
4
Anne Lambilliotte
5
Nathalie Aladjidi
6
Yves Bertrand
7
Valerie Mialou
7
Christine Perot
8
Gerard Michel
9
Fanny Fouyssac
10
Catherine Paillard
11
Virginie Gandemer
12, *
Patrick Boutard
13
Jacques Schmitz
14
Alain Morali
15
Thierry Leblanc
16
Christine Bellanne-Chantelot
3
*
Corresponding author
Jean Donadieu 1
Author
Odile Fenneteau 2
Author
Blandine Beaupain 1
Author
Sandrine Beaufils 3
Author
Florence Bellanger 3
Author
Nizar Mahlaoui 4
Author
Anne Lambilliotte 5
Author
Nathalie Aladjidi 6
Author
Fanny Fouyssac 10
Author
Catherine Paillard 11
Author
Virginie Gandemer 12
Correspondent author
Patrick Boutard 13
Author
Jacques Schmitz 14
Author
Alain Morali 15
Author
Thierry Leblanc 16
Author
Christine Bellanne-Chantelot 3
Author
1
Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau] (26, avenue du Docteur Arnold-Netter 75571 PARIS Cedex 12 - France)
- UPMC - Université Pierre et Marie Curie - Paris 6 (4 place Jussieu - 75005 Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Trousseau [APHP] (26 Avenue du Dr Arnold Netter, 75012 Paris - France)
2
Service d'Hématologie Biologique (Paris - France)
3
Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière] (47-83, boulevard de l'Hôpital 75651 PARIS Cedex 13 - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- CHU Pitié-Salpêtrière [AP-HP] (47-83 Boulevard de l'Hôpital, 75013 Paris - France)
4
IRNEM - IFR Necker-Enfants Malades (GH Necker - Enfants Malades 149, Rue de Sevres 75743 PARIS CEDEX 15 - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- UPD5 - Université Paris Descartes - Paris 5 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : IFR94 (101, rue de Tolbiac, 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : IFR94 (France)
5
Service d'hématologie pédiatrique-oncologie (Lille - France)
- Hôpital Jeanne de Flandre [Lille] (France)
- CHRU Lille - Centre Hospitalier Régional Universitaire [Lille] (2, avenue Oscar Lambret - 59037 Lille Cedex - France)
6
Service d'Hémato-oncologie Pédiatrique (Bordeaux - France)
- CHU Bordeaux [Bordeaux] (place Amélie Raba Léon 33076 BORDEAUX CEDEX - France)
- Hôpital Pellegrin (France)
7
Service de pédiatrie (Lyon - France)
- HCL - Hospices Civils de Lyon (3 Quai des Célestins 69002 Lyon - France)
- Hôpital Debrousse (29 Rue Soeur Bouvier,
69005 Lyon - France)
- HCL - Hospices Civils de Lyon (3 Quai des Célestins 69002 Lyon - France)
- IHOPe - Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (1 place Professeur Joseph Renault
69008 Lyon - France)
- HCL - Hospices Civils de Lyon (3 Quai des Célestins 69002 Lyon - France)
8
CR Saint-Antoine - Centre de Recherche Saint-Antoine (France)
- UPMC - Université Pierre et Marie Curie - Paris 6 (4 place Jussieu - 75005 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U938 (101, rue de Tolbiac, 75013 Paris - France)
9
TIMONE - Hôpital de la Timone [CHU - APHM] (France)
10
Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy] (Rue du Morvan, 54500 Vandœuvre-lès-Nancy. - France)
- CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy (Siège social : 29 avenue du Maréchal de Lattre de Tassigny, CO 60034, 54035 NANCY CEDEX Hôpital Central : 29 Avenue du Maréchal de Lattre de Tassigny, 54035 Nancy Hôpitaux de Brabois / Enfants : Rue du Morvan, 54500 Vandœuvre-lès-Nancy Maternité régionale :10 Avenue Dr Heydenreich, 54000 Nancy - France)
12
Service d'hématologie-oncologie pédiatrique (Rennes - France)
- CHU Pontchaillou [Rennes] (2 Rue Henri le Guilloux, 35000 Rennes - France)
13
Unité d'hémato-immuno-oncologie pédiatrique [CHU Caen] (Centre Hospitalier Universitaire
Avenue de la Côte de Nacre
14033 CAEN Cedex 9 - France)
- CHU Caen (Avenue de la Côte de Nacre 14000 Caen - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- TCBN - Tumorothèque de Caen Basse-Normandie (3 avenue du Général Harris 14076 Caen cedex 5 - France)
- UNICAEN - Université de Caen Normandie (Esplanade de la Paix - CS 14032 - 14032 CAEN Cedex 5 - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
14
Service de Gastro-entérologie Pédiatrique (Paris - France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
- UPD5 - Université Paris Descartes - Paris 5 (12, rue de l'École de Médecine - 75270 Paris cedex 06 - France)
- CHU Necker - Enfants Malades [AP-HP] (149 Rue de Sèvres 75015 Paris - France)
15
Service de Gastro-Entérologie Pédiatrique [CHRU Nancy] (Nancy - France)
- CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy (Siège social : 29 avenue du Maréchal de Lattre de Tassigny, CO 60034, 54035 NANCY CEDEX Hôpital Central : 29 Avenue du Maréchal de Lattre de Tassigny, 54035 Nancy Hôpitaux de Brabois / Enfants : Rue du Morvan, 54500 Vandœuvre-lès-Nancy Maternité régionale :10 Avenue Dr Heydenreich, 54000 Nancy - France)
16
Service d'hématologie et immunologie pédiatrique (Paris - France)
- UPD7 - Université Paris Diderot - Paris 7 (5 rue Thomas-Mann - 75205 Paris cedex 13 - France)
- Hôpital Robert Debré (France)
- AP-HP - Assistance publique - Hôpitaux de Paris (AP-HP) (France)
Abstract : BACKGROUND: Patients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications. DESIGN AND METHODS: One hundred and two patients with Shwachman-Diamond syndrome, with a median follow-up of 11.6 years, were studied. Major hematologic complications were considered in the case of definitive severe cytopenia (i.e. anemia <7 g/dL or thrombocytopenia <20 × 10(9)/L), classified as malignant (myelodysplasia/leukemia) according to the 2008 World Health Organization classification or as non-malignant. RESULTS: Severe cytopenia was observed in 21 patients and classified as malignant severe cytopenia (n=9), non-malignant severe cytopenia (n=9) and malignant severe cytopenia preceded by non-malignant severe cytopenia (n=3). The 20-year cumulative risk of severe cytopenia was 24.3% (95% confidence interval: 15.3%-38.5%). Young age at first symptoms (<3 months) and low hematologic parameters both at diagnosis of the disease and during the follow-up were associated with severe hematologic complications (P<0.001). Fifteen novel SBDS mutations were identified. Genotype analysis showed no discernible prognostic value. CONCLUSIONS Patients with Shwachman-Diamond syndrome with very early symptoms or cytopenia at diagnosis (even mild anemia or thrombocytopenia) should be considered at a high risk of severe hematologic complications, malignant or non-malignant. Transient severe cytopenia or an indolent cytogenetic clone had no deleterious value.
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Journal articles
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https://www.hal.inserm.fr/inserm-00689125
Contributor : Hervé de Villemeur <>
Submitted on : Thursday, April 19, 2012 - 12:27:44 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:03 AM
Long-term archiving on: : Friday, July 20, 2012 - 2:34:59 AM
Contributor : Hervé de Villemeur <>
Submitted on : Thursday, April 19, 2012 - 12:27:44 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:03 AM
Long-term archiving on: : Friday, July 20, 2012 - 2:34:59 AM
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haematol.2011.057489.full.pdf
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Identifiers
- HAL Id : inserm-00689125, version 1
- DOI : 10.3324/haematol.2011.057489
- PUBMED : 22491737
Collections
UPMC | HCL | CNRS | U938 | UNIV-RENNES1 | IGDR | UNIV-PARIS5 | BIOSIT | UR1-UFR-SVE | USPC | UNIV-RENNES | SORBONNE-UNIVERSITE | SU-MEDECINE | UNIV-PARIS7 | COMUE-NORMANDIE | UNICAEN
Citation
Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Sandrine Beaufils, Florence Bellanger, et al.. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.. Haematologica, Ferrata Storti Foundation, 2012, 97 (9), pp.1312-9. ⟨10.3324/haematol.2011.057489⟩. ⟨inserm-00689125⟩
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