ArticleAmerican journal of hematology2010
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--correlation with genotype and phenotype.
Article in American journal of hematology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 57 citations in OpenAlex.
- Thyroid involvement in lysosomal storage diseases: current evidence and clinical perspectives.Reviews in endocrine & metabolic disorders · 2026Review
- Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.International journal of molecular sciences · 2024Article
- Review
- Cancer Risk in Patients with Gaucher Disease Using Real-World Data.Journal of clinical medicine · 2023Article
- Review
- In-depth phenotyping for clinical stratification of Gaucher disease.Orphanet journal of rare diseases · 2021Article
- Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).Diagnostics (Basel, Switzerland) · 2021Article
- Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease.Journal of blood medicine · 2021Review
- Review
- Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.Orphanet journal of rare diseases · 2019Review
- Hepatocellular carcinoma in Gaucher disease: an international case series.Journal of inherited metabolic disease · 2018Article
- Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously.Clinical case reports · 2018Article
- Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.Molecular genetics and metabolism reports · 2017Article
- Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Pediatric endocrinology reviews : PER · 2014Review
- Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications.Orphanet journal of rare diseases · 2014Article
- Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.Critical reviews in oncogenesis · 2013Review
- Article
- Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.Journal of inherited metabolic disease · 2011Article
- Gaucher disease and cancer: concept and controversy.International journal of cell biology · 2011Article
- A second reported malignancy in a patient with Morquio syndrome.Autopsy & case reportsReview
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
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-neuronopathic 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, GBA1 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 (P < 0.0072 and P < 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.