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

Pediatric blood & cancer - 1 Nov 2022

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

Abstract excerpt

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...

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PMID: 35969146
DOI: 10.1002/pbc.29923

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