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

Jean DonadieuFares Bou MitriBlandine BeaupainNathalie AladjidiJean Francois ViallardJean-Philippe Le PaihMokrane YacoubThierry LeblancLaurent QueroAlexia RoulandLouis LabbeClaire DebackChristine Bellanne-ChantelotJean-François Emile
Published in: Pediatric blood & cancer (2022)
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.
Keyphrases
  • end stage renal disease
  • squamous cell
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • gene expression
  • squamous cell carcinoma
  • papillary thyroid
  • early onset
  • lymph node metastasis