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

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

Jean Donadieu  1 , Fares Bou Mitri  1 , Blandine Beaupain  1 , Nathalie Alajidi  2 , Jean Francois Viallard  3 , Jean-Philippe Le Paih  4 , Mokrane Yacoub  5 , Thierry Leblanc  6 , Laurent Quero  7 , Alexia Rouland  8 , Louis Labbe  9 , Claire Deback  10 , Christine Bellanne-Chantelot  11 , Jean-François Emile  12
Affiliations

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

Jean Donadieu et al. Pediatr Blood Cancer. 2022 Nov.

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.

Keywords: ELANE neutropenia; SCN; registry; solid tumor.

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References

REFERENCES

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