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Volumn 18, Issue 3, 2013, Pages 235-246

Gaucher disease and malignancy: A model for cancer pathogenesis in an inborn error of metabolism

Author keywords

Cancer risk; Enzyme replacement therapy; Gaucher disease; Glucocerebroside; Modifier genes; Multiple cancers; Multiple myeloma; Substrate reduction therapy

Indexed keywords

ALGLUCERASE; GLUCOSYLCERAMIDE; IMIGLUCERASE;

EID: 84875283093     PISSN: 08939675     EISSN: 21626448     Source Type: Journal    
DOI: 10.1615/CritRevOncog.2013006145     Document Type: Article
Times cited : (97)

References (69)
  • 1
    • 79953696794 scopus 로고    scopus 로고
    • Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism
    • Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Gen. 2011;88:402-21.
    • (2011) Am J Hum Gen. , vol.88 , pp. 402-421
    • Erez, A.1    Shchelochkov, O.A.2    Plon, S.E.3    Scaglia, F.4    Lee, B.5
  • 3
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: Complexity in a "simple" disorder
    • Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mole Gen Metab. 2004;83:6-15.
    • (2004) Mole Gen Metab. , vol.83 , pp. 6-15
    • Sidransky, E.1
  • 4
    • 53049096591 scopus 로고    scopus 로고
    • Phenotype, diagnosis, and treatment of Gaucher's disease
    • Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008;372:1263-71.
    • (2008) Lancet. , vol.372 , pp. 1263-1271
    • Grabowski, G.A.1
  • 5
    • 79959798635 scopus 로고    scopus 로고
    • Pulmonary vascular disease in Gaucher disease: Clinical spectrum, determinants of phenotype and long-term outcomes of therapy
    • Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. J Inher Metab Dis. 2011;34:643-50.
    • (2011) J Inher Metab Dis. , vol.34 , pp. 643-650
    • Lo, S.M.1    Liu, J.2    Chen, F.3    Pastores, G.M.4    Knowles, J.5    Boxer, M.6    Aleck, K.7    Mistry, P.K.8
  • 10
    • 18844449947 scopus 로고    scopus 로고
    • Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic
    • Zimran A, Liphshitz I, Barchana M, Abrahamov A, Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cell Mol Dis. 2005;34:197-200.
    • (2005) Blood Cell Mol Dis. , vol.34 , pp. 197-200
    • Zimran, A.1    Liphshitz, I.2    Barchana, M.3    Abrahamov, A.4    Elstein, D.5
  • 15
    • 79959945443 scopus 로고    scopus 로고
    • Gaucher disease: Clinical profile and therapeutic developments
    • Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics: Targets & Therapy. 2010;4:299-313.
    • (2010) Biologics: Targets & Therapy. , vol.4 , pp. 299-313
    • Cox, T.M.1
  • 16
    • 41349085850 scopus 로고    scopus 로고
    • Treatment perspectives for the lysosomal storage diseases
    • Grabowski GA. Treatment perspectives for the lysosomal storage diseases. Expert Opin Emerging Drugs. 2008;13:197-211.
    • (2008) Expert Opin Emerging Drugs. , vol.13 , pp. 197-211
    • Grabowski, G.A.1
  • 17
    • 34547660165 scopus 로고    scopus 로고
    • Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention
    • Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007;82:697-701.
    • (2007) Am J Hematol. , vol.82 , pp. 697-701
    • Mistry, P.K.1    Sadan, S.2    Yang, R.3    Yee, J.4    Yang, M.5
  • 18
    • 0020020927 scopus 로고
    • Gaucher disease: A century of delineation and understanding
    • Desnick RJ. Gaucher disease: a century of delineation and understanding. Prog Clin Biol Res. 1982;95:1-30.
    • (1982) Prog Clin Biol Res. , vol.95 , pp. 1-30
    • Desnick, R.J.1
  • 19
    • 0029060711 scopus 로고
    • Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease. A case report
    • Pins MR, Mankin HJ, Xavier RJ, Rosenthal DI, Dickersin GR, Rosenberg AE. Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease. A case report. J Bone Joint Surg Am. 1995;77:777-81.
    • (1995) J Bone Joint Surg Am. , vol.77 , pp. 777-781
    • Pins, M.R.1    Mankin, H.J.2    Xavier, R.J.3    Rosenthal, D.I.4    Dickersin, G.R.5    Rosenberg, A.E.6
  • 20
    • 0032992099 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in a patient with Gaucher disease on enzyme supplementation therapy
    • Erjavec Z, Hollak CE, de Vries EG. Hepatocellular carcinoma in a patient with Gaucher disease on enzyme supplementation therapy. Ann Oncol ESMO. 1999;10:243.
    • (1999) Ann Oncol ESMO. , vol.10 , pp. 243
    • Erjavec, Z.1    Hollak, C.E.2    de Vries, E.G.3
  • 23
    • 0020014944 scopus 로고
    • The pathology of Gaucher disease
    • Lee RE. The pathology of Gaucher disease. Prog Clin Biol Res. 1982;95:177-217.
    • (1982) Prog Clin Biol Res. , vol.95 , pp. 177-217
    • Lee, R.E.1
  • 24
    • 0027277054 scopus 로고
    • Increased risk of cancer in patients with Gaucher disease
    • Shiran A, Brenner B, Laor A, Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer. 1993;72:219-24.
    • (1993) Cancer. , vol.72 , pp. 219-224
    • Shiran, A.1    Brenner, B.2    Laor, A.3    Tatarsky, I.4
  • 25
    • 77951523100 scopus 로고    scopus 로고
    • 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
    • Lo SM, Stein P, Mullaly S, Bar M, Jain D, Pastores GM, Mistry PK. 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. Am J Hematol. 2010;85:340-5.
    • (2010) Am J Hematol. , vol.85 , pp. 340-345
    • Lo, S.M.1    Stein, P.2    Mullaly, S.3    Bar, M.4    Jain, D.5    Pastores, G.M.6    Mistry, P.K.7
  • 26
    • 78650808636 scopus 로고    scopus 로고
    • JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease
    • Webb BD, Weinreb NJ, Botti AC, Kirmse BM, Balwani M. JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease. Blood Cell MolDis. 2011;46:103-4.
    • (2011) Blood Cell MolDis. , vol.46 , pp. 103-104
    • Webb, B.D.1    Weinreb, N.J.2    Botti, A.C.3    Kirmse, B.M.4    Balwani, M.5
  • 27
    • 34250312047 scopus 로고    scopus 로고
    • Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease
    • Landgren O, Turesson I, Gridley G, Caporaso NE. Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease. Arch Intern Med. 2007;167:1189-94.
    • (2007) Arch Intern Med. , vol.167 , pp. 1189-1194
    • Landgren, O.1    Turesson, I.2    Gridley, G.3    Caporaso, N.E.4
  • 29
    • 51449114507 scopus 로고    scopus 로고
    • Lipid composition of microdomains is altered in a cell model of Gaucher disease
    • Hein LK, Duplock S, Hopwood JJ, Fuller M. Lipid composition of microdomains is altered in a cell model of Gaucher disease. J Lipid Res. 2008;49:1725-34.
    • (2008) J Lipid Res. , vol.49 , pp. 1725-1734
    • Hein, L.K.1    Duplock, S.2    Hopwood, J.J.3    Fuller, M.4
  • 34
    • 38549152194 scopus 로고    scopus 로고
    • Principles of bioactive lipid signalling: Lessons from sphingolipids
    • Hannun YA, Obeid LM. Principles of bioactive lipid signalling: lessons from sphingolipids. Nature Rev Mole Cell Biol. 2008;9:139-50.
    • (2008) Nature Rev Mole Cell Biol. , vol.9 , pp. 139-150
    • Hannun, Y.A.1    Obeid, L.M.2
  • 35
    • 69449103951 scopus 로고    scopus 로고
    • Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
    • Hulkova H, Ledvinova J, Poupetova H, Kohout A, Malinova V, Elleder M. Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. J Inher Metab Dis. 2009;32:551-9.
    • (2009) J Inher Metab Dis. , vol.32 , pp. 551-559
    • Hulkova, H.1    Ledvinova, J.2    Poupetova, H.3    Kohout, A.4    Malinova, V.5    Elleder, M.6
  • 36
    • 77953232359 scopus 로고    scopus 로고
    • High incidence of cholesterol gallstone disease in type 1 Gaucher disease: Characterizing the biliary phenotype of type 1 Gaucher disease
    • Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease. J Inher Metab Dis. 2010;33:291-300.
    • (2010) J Inher Metab Dis. , vol.33 , pp. 291-300
    • Taddei, T.H.1    Dziura, J.2    Chen, S.3    Yang, R.4    Hyogo, H.5    Sullards, C.6    Cohen, D.E.7    Pastores, G.8    Mistry, P.K.9
  • 37
    • 4344593367 scopus 로고    scopus 로고
    • Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
    • Boven LA, van Meurs M, Boot RG, Mehta A, Boon L, Aerts JM, Laman JD. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol. 2004;122:359-69.
    • (2004) Am J Clin Pathol. , vol.122 , pp. 359-369
    • Boven, L.A.1    van Meurs, M.2    Boot, R.G.3    Mehta, A.4    Boon, L.5    Aerts, J.M.6    Laman, J.D.7
  • 43
    • 0031018508 scopus 로고    scopus 로고
    • Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: Increased release of interleukin-6 and interleukin-10
    • Allen MJ, Myer BJ, Khokher AM, Rushton N, Cox TM. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM: Mon J Assoc Physician. 1997;90:19-25.
    • (1997) QJM: Mon J Assoc Physician. , vol.90 , pp. 19-25
    • Allen, M.J.1    Myer, B.J.2    Khokher, A.M.3    Rushton, N.4    Cox, T.M.5
  • 48
    • 77952541606 scopus 로고    scopus 로고
    • Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness
    • Balreira A, Cavallari M, Sa Miranda MC, Arosa FA. Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness. Immunobiology. 2010;215:505-13.
    • (2010) Immunobiology. , vol.215 , pp. 505-513
    • Balreira, A.1    Cavallari, M.2    Sa Miranda, M.C.3    Arosa, F.A.4
  • 50
    • 0021812883 scopus 로고
    • Interaction between a serum factor and T lymphocytes in Gaucher disease
    • Bassan R, Montanelli A, Barbui T. Interaction between a serum factor and T lymphocytes in Gaucher disease. Am J Hematol. 1985;18:381-4.
    • (1985) Am J Hematol. , vol.18 , pp. 381-384
    • Bassan, R.1    Montanelli, A.2    Barbui, T.3
  • 51
    • 77954910427 scopus 로고    scopus 로고
    • Hyperferritinemia and iron overload in type 1 Gaucher disease
    • Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol. 2010;85:472-6.
    • (2010) Am J Hematol. , vol.85 , pp. 472-476
    • Stein, P.1    Yu, H.2    Jain, D.3    Mistry, P.K.4
  • 56
    • 0027263071 scopus 로고
    • Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
    • Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Nat Acad Sci U S A. 1993;90:5384-90.
    • (1993) Proc Nat Acad Sci U S A. , vol.90 , pp. 5384-5390
    • Beutler, E.1
  • 58
    • 78650846536 scopus 로고    scopus 로고
    • Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease
    • Lieblich M, Altarescu G, Zimran A, Elstein D. Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease. Blood Cell Mole Dis. 2011;46:92-4.
    • (2011) Blood Cell Mole Dis. , vol.46 , pp. 92-94
    • Lieblich, M.1    Altarescu, G.2    Zimran, A.3    Elstein, D.4
  • 59
    • 84862776523 scopus 로고    scopus 로고
    • Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation in Gaucher disease
    • Philip Stein, Clarence Zhang, Jun Liu, Gregory M Pastores, Zuoheng Wang, Ruhua Yang, Judy Cho, Peter Gregersen, Hongyu Zhao, Pramod K. Mistry. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation in Gaucher disease. Am J Hematol. 2012. 87:377-83.
    • (2012) Am J Hematol. , vol.87 , pp. 377-383
    • Stein, P.1    Zhang, C.2    Liu, J.3    Pastores, G.M.4    Wang, Z.5    Yang, R.6    Cho, J.7    Gregersen, P.8    Zhao, H.9    Mistry, P.K.10
  • 60
    • 0026465017 scopus 로고
    • Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients
    • Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine. 1992;71:337-53.
    • (1992) Medicine. , vol.71 , pp. 337-353
    • Zimran, A.1    Kay, A.2    Gelbart, T.3    Garver, P.4    Thurston, D.5    Saven, A.6    Beutler, E.7
  • 62
    • 15244348524 scopus 로고    scopus 로고
    • Gaucher disease and parkinsonism
    • Sidransky E. Gaucher disease and parkinsonism. Mole Gen Metab. 2005;84:302-4.
    • (2005) Mole Gen Metab. , vol.84 , pp. 302-324
    • Sidransky, E.1
  • 66
    • 0033560130 scopus 로고    scopus 로고
    • Chemotherapy by slowing glucosphingolipid synthesis
    • Radin NS. Chemotherapy by slowing glucosphingolipid synthesis. Biochem Pharmacol. 1999;57:589-95.
    • (1999) Biochem Pharmacol. , vol.57 , pp. 589-595
    • Radin, N.S.1
  • 68
    • 77957605619 scopus 로고    scopus 로고
    • Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases
    • Cox TM. Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases. Curr Opin Investig Drugs. 2010;11:1169-81.
    • (2010) Curr Opin Investig Drugs. , vol.11 , pp. 1169-1181
    • Cox, T.M.1
  • 69
    • 84861217290 scopus 로고    scopus 로고
    • Phenotypic diversity in type 1 Gaucher disease: Discovering the Genetic Basis of Gaucher disease/hematological malignancy phenotype by whole exome capture and massively parallel sequencing
    • 2012 May 17
    • Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer G, Mane S, Lifton RP, Mistry PK. (2012) Phenotypic diversity in type 1 Gaucher disease: Discovering the Genetic Basis of Gaucher disease/hematological malignancy phenotype by whole exome capture and massively parallel sequencing. Blood, 2012 May 17;119(20):4731-40.
    • (2012) Blood , vol.119 , Issue.20 , pp. 4731-4740
    • Lo, S.M.1    Choi, M.2    Liu, J.3    Jain, D.4    Boot, R.G.5    Kallemeijn, W.W.6    Aerts, J.M.7    Pashankar, F.8    Kupfer, G.9    Mane, S.10    Lifton, R.P.11    Mistry, P.K.12


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.