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- W2033062009 abstract "Patients with type 1 Gaucher disease (GD1) have increased risk of developing myeloma, other hematological cancers, hepatocellular carcinoma, and other solid tumors. Patient awareness of the GD1-cancer association causes anxiety and fear. Little is known about cancer as a cause of death in GD1, especially in patients never treated with GD1-specific therapies. Consequently, the effect of treatment on cancer mortality in GD1 patients is difficult to evaluate. In this review, starting with a population of 184 GD1 cases never treated, we annotate and analyze the causes of death of 57 GD1 patients who died of cancer. The proportional mortality ratio (PMR) for all malignancies in patients with GD1 is 1.57 (p = 0.0002), but it is much higher for myeloma (PMR = 9.66) and other hematological cancers, hepatocellular carcinoma, and kidney cancer (PMR = ≍4). However, deaths from colorectal and pancreatic cancers were not more frequent than expected, and deaths from lung, breast, gynecological, and prostate cancer occurred less than anticipated. Herein, we discuss whether GD1 is truly a hereditary cancer syndrome and the problem of comorbidities and cancer risk assessment, and we speculate as to whether the variability in death by cancer type might be attributable to biochemical sequelae of tumor cell and macrophage/stromal cell GBA1 mutation affecting signals for metastasis, the process most closely associated with cancer mortality." @default.
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- W2033062009 date "2013-01-01" @default.
- W2033062009 modified "2023-09-25" @default.
- W2033062009 title "Causes of Death Due to Hematological and Non-Hematological Cancers in 57 US Patients with Type 1 Gaucher Disease Who Were Never Treated with Enzyme Replacement Therapy" @default.
- W2033062009 doi "https://doi.org/10.1615/critrevoncog.2013005921" @default.
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