ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry.

作者信息

Donadieu Jean, Bou Mitri Fares, Beaupain Blandine, Alajidi Nathalie, Viallard Jean Francois, Paih Jean-Philippe Le, Yacoub Mokrane, Leblanc Thierry, Quero Laurent, Rouland Alexia, Labbe Louis, Deback Claire, Bellanne-Chantelot Christine, Emile Jean-François

机构信息

French Registry for Severe Chronic Neutropenia, Armand-Trousseau Hospital, APHP, Paris, France.

Onco-hematology Unit, Pediatic Department, Children Hospital, Groupe Hospitalier Pellegrin, Bordeaux, France.

出版信息

Pediatr Blood Cancer. 2022 Nov;69(11):e29923. doi: 10.1002/pbc.29923. Epub 2022 Aug 15.

DOI:10.1002/pbc.29923

PMID:35969146

Abstract

Neutropenia related to ELANE gene mutations predisposes patients to infection and leukemia/myelodysplasia, but little is known about the predisposition to cancer. Among a cohort of 147 patients, we identified four with malignant solid tumors (papillary thyroid cancer, anal squamous cell cancer, papillary renal cell carcinoma, and adrenocortical carcinoma), all aged 25-50 years. Three occurred with cyclic neutropenia, and one occurred with severe chronic neutropenia. Previous radiotherapy was identified as a risk factor in one patient. No genetic predisposition was identified in the three other patients.

摘要