ELANE neutropenia and solid tumors: 4 cases from the French severe
chronic neutropenia registry
Abstract
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.