{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:52:39Z","timestamp":1792788759802,"version":"4.5.0"},"reference-count":61,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,2,16]],"date-time":"2010-02-16T00:00:00Z","timestamp":1266278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In Gaucher disease (GD), inherited deficiency of lysosomal glucocerebrosidase due to mutations in GBA1 gene results in accumulation of glucosylceramide in tissue macrophages, systemic macrophage activation, and a complex multisystemic phenotype. We and others have reported an increased risk of multiple myeloma and other malignancies in non\u2010neuronopathic Type 1 GD (GD1). Here, we describe a subset of GD1 patients with multiple malignancies. In our cohort of 403 patients with GD1, nine patients (2.2%) developed two or three different types of cancers either consecutively or simultaneously. Patients were characterized by age at diagnosis of GD1, <jats:italic>GBA1<\/jats:italic> genotype, disease severity, age at cancer diagnosis, enzyme replacement therapy (ERT) status, and splenectomy status. Of the nine patients, six developed two types of malignancies and three had three cancers each. Overall, the hematologic malignancies comprised lymphoma\/leukemia (4) and multiple myeloma (4). Nonhematologic malignancies included colon (2), lung (2), thyroid (2), and prostate cancer (1). Of the seven patients who received ERT, the first cancer was diagnosed before initiation of ERT in all but one. Asplenic patients were more likely to have single or multiple cancers compared with patients with intact spleens (<jats:italic>P<\/jats:italic> &lt; 0.0072 and <jats:italic>P<\/jats:italic> &lt; 0.0203, respectively). Our data strengthen the association of GD1 and cancer and suggest that patients may be at risk of developing multiple malignancies. We found an association between splenectomy and multiple cancers in GD1. It will be of interest to determine whether timely ERT and declining rates of splenectomy will translate into declining rates of multiple and single cancers. Am. J. Hematol. 2010. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.21684","type":"journal-article","created":{"date-parts":[[2010,2,16]],"date-time":"2010-02-16T17:32:55Z","timestamp":1266341575000},"page":"340-345","source":"Crossref","is-referenced-by-count":52,"title":["Expanding spectrum of the association between Type 1 Gaucher disease and cancers: A series of patients with up to 3 sequential cancers of multiple types\u2014Correlation with genotype and phenotype"],"prefix":"10.1002","volume":"85","author":[{"given":"Sarah M.","family":"Lo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Stein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Mullaly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhanpat","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory M.","family":"Pastores","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pramod K.","family":"Mistry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,4,21]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61522-6"},{"key":"e_1_2_1_3_2","first-page":"42","article-title":"Analyses of variant acid beta glucosidases: Effects of Gaucher disease mutations","volume":"17","author":"Liou B","year":"2006","journal-title":"J Biol Chem"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.015"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20676"},{"issue":"2","key":"e_1_2_1_6_2","first-page":"106","article-title":"Gaucher disease: Understanding the molecular pathogenesis of sphingolipidoses","volume":"24","author":"Cox TM","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_7_2","first-page":"659","article-title":"Gaucher's disease: Clinical features and natural history","volume":"10","author":"Cox TM","year":"1997","journal-title":"Bailliere's Clin Haematol"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"e242","DOI":"10.5858\/2003-127-e242-SLAIAP","article-title":"Splenic lymphoma arising in a patient with Gaucher disease. 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