title: Enzyme replacement therapy for Gaucher's disease in patient treated for non-small cell lung cancer.
abstract: 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.
authors.affiliation: Division of Hematology, Oncology and Transplantation, University of Minnesota Medical School, MMC 480, 420 Delaware Street SE, Minneapolis, MN 55455, USA.
authors.forename: Jose Pablo
authors.initials: JP
authors.lastname: Leone
authors.forename: Arkadiusz Zbigniew
authors.initials: AZ
authors.lastname: Dudek
mesh_terms: D000230:Adenocarcinoma / Q000150:complications* / Q000188:drug therapy / Q000532:radiotherapy / Q000628:therapy*; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects / Q000627:therapeutic use; D002945:Cisplatin / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D003131:Combined Modality Therapy; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000188:drug therapy* / Q000201:enzymology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D005971:Glutamates / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D006147:Guanine / Q000008:administration & dosage / Q000009:adverse effects / Q000031:analogs & derivatives / Q000627:therapeutic use; D006801:Humans; D008175:Lung Neoplasms / Q000150:complications* / Q000188:drug therapy / Q000532:radiotherapy / Q000628:therapy*; D008875:Middle Aged; D000068437:Pemetrexed; D011804:Quinolines / Q000009:adverse effects / Q000627:therapeutic use
chemical_list: D005971:Glutamates; D011804:Quinolines; D000068437:Pemetrexed; D006147:Guanine; D005962:Glucosylceramidase; C487932:neratinib; D002945:Cisplatin; C090568:imiglucerase