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ELANE neutropenia and solid tumors: 4 cases from the French severe chronic neutropenia registry
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  • Jean Donadieu,
  • Fares BOU MITRI,
  • Blandine BEAUPAIN,
  • nathalie Aladjidi,
  • jean-françois VIALLARD,
  • jean-Philippe LE PAIH,
  • mokrane yacoub,
  • Thierry Leblanc,
  • laurent quero,
  • alexia rouland,
  • louis LABBE,
  • claire deback,
  • Christine Bellanné-Chantelot,
  • Jean-Francois EMILE
Jean Donadieu
CHU Trousseau

Corresponding Author:jean.donadieu@aphp.fr

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Armand-Trousseau Childrens Hospital
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Armand-Trousseau Childrens Hospital
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nathalie Aladjidi
University hospital of Bordeaux
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jean-françois VIALLARD
CHU de Bordeaux
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jean-Philippe LE PAIH
CHU Bordeaux GH Pellegrin
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mokrane yacoub
CHU Bordeaux GH Pellegrin
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Thierry Leblanc
Assistance Publique - Hôpitaux de Paris
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laurent quero
Hopital Saint-Louis
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alexia rouland
CHU Dijon
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louis LABBE
hotel dieu Le creusot
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claire deback
Universite Paris-Saclay Faculte des Sciences d'Orsay
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Christine Bellanné-Chantelot
Hopital Universitaire Pitie Salpetriere
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Jean-Francois EMILE
Ambroise Pare Hospital Group
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Neutropenia related to ELANE gene mutations predisposes to infection and leukemia/ myelodysplasia, but little is known about the predisposition to cancer. Among a cohort of 149 patients, we identified four with malignant solid tumors (papillary thyroid cancer, anal squamous cell cancer, papillary renal cell carcinoma, and adrenocortical carcinoma), all after the age of 25 years. Three occurred in cyclic neutropenia while 1 occurred in severe chronic neutropenia (among 49 and 100 patients, respectively). A previous radiotherapy was identified as risk factor in one patient. Moreover, among 18 other patients that underwent hematopoietic stem-cell transplantations, none developed a cancer.