Enzyme replacement therapy for Gaucher's disease in patient treated for non-small cell lung cancer

Gaucher's disease (GD) is an autosomal recessive lysosomal storage disease resulting in an abnormal accumulation of glucocerebrosides in macrophages. Recent studies have reported that patients with GD are at an increased risk of developing malignancies. Here, a rare case of a patient with Type I GD who developed adenocarcinoma of the lung that was treated with chemotherapy, radiotherapy and biological agents inhibiting receptor tyrosine kinases is presented. The patient developed unusually severe hematological toxicity to chemotherapy as compared to nonsmall cell lung cancer patients without the GD defect. Pancytopenia is already present in GD patients and it is reasonable to expect an increased risk of hematological toxicity in treating solid tumors in these patients. Therefore, it is advisable to consider early glucocerebrosidase replacement therapy in GD patients receiving cytotoxic or targeted therapy for cancer.