Giant cell tumor and Paget's disease of bone in one family: geographic clustering (353 views)
Clinical Orthopaedics And Related Research (ISSN: 0009-921x), 2004 Apr; (421): 218-224.
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Paper type: Journal Article,
Impact factor: 1.403, 5-year impact factor: 3.189
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-2342476513&partnerID=40&md5=c29a1705e97b375f44e32bc48c948c07
Keywords: Bisphosphonic Acid Derivative, Clodronic Acid, Cobalt 60, Dexamethasone, Pamidronic Acid, Salcatonin, Adult, Aged, Article, Benign Tumor, Bone Biopsy, Clinical Article, Computer Assisted Tomography, Environmental Factor, Family Study, Female, Genetic Linkage, Giant Cell Tumor, Human, Human Tissue, Italy, Paget Bone Disease, Pedigree Analysis, Priority Journal, Tumor Classification, Tumor Diagnosis, Bone Neoplasms, Giant Cell Tumor Of Bone, Middle Aged, Osteitis Deformans,
Affiliations:
*** IBB - CNR ***
Dept. of Clin. and Exp. Medicine, Federico II Univ. Medical School, Naples, Italy
Dept. of Biomorphol. and Funct. Sci., Dept. of Diagn. Imaging/Radiother., Federico II Univ. Medical School, Naples, Italy
National Research Council (CNR), Biostruct. and Bioimaging Institute, Federico II Univ. Medical School, Naples, Italy
Dept. of Funct. and Morphol. Sci., Section of Pathology, Federico II Univ. Medical School, Naples, Italy
Dipto. di Med. Clin. e Sperimentale, Universitá Federico II, via S. Pansini, 5, 80131, Naples, Italy
References:
Altman, R.D., Paget's Disease of Bone (2002) Disorders of Bone and Mineral Metabolism. Ed 2, pp. 985-1020. , Coe FL, Favus MJ (eds). Philadelphia, Lippincott Williams & Wilkin
Bertoni, F., Unni, K.K., Beabout, J.W., Giant cell tumor of the skull (1992) Cancer, 70, pp. 1124-1132
Cummins, C.A., Scarborough, M.T., Enneking, W.F., Multicentric giant cell tumor of bone (1996) Clin Orthop, 322, pp. 245-252
Gebhart, M., Vandeweyer, E., Nemec, E., Paget's disease of bone complicated by giant cell tumor (1998) Clin Orthop, 352, pp. 187-193
Good, D.A., Busfield, F., Fletcher, B.H., Linkage of Paget disease of bone to a novel region on human chromosome 18q23 (2002) Am J Hum Genet, 70, pp. 517-525
Grimer, R.J., Cannon, S.R., Taminiau, A.M., Osteosarcoma over the age of forty (2003) Eur J Cancer, 39, pp. 157-163
Hadjipavlou, A., Lander, P., Srolovitz, H., Malignant transformation in Paget disease of bone (1992) Cancer, 70, pp. 2802-2808
Haibach, H., Farrell, C., Dittrich, F.J., Neoplasm arising in Paget's disease of bone: A study of 82 cases (1985) Am J Clin Pathol, 83, pp. 594-600
Hocking, L.J., Herbert, C.A., Nicholls, R.K., Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p 13, and 5q35 (2001) Am J Hum Genet, 69, pp. 1055-1061
Hughes, A.E., Ralston, S.H., Marken, J., Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis (2000) Nat Genet, 24, pp. 45-48
Jacobs, T.P., Michelsen, J., Polay, J.S., Giant cell tumor in Paget's disease of bone: Familial and geographic clustering (1979) Cancer, 44, pp. 742-747
Laurin, N., Brown, J.P., Lemainque, A., Paget disease of bone: Mapping of two loci at 5q35-qter and 5q31 (2001) Am J Hum Genet, 69, pp. 528-543
Leach, R.J., Singer, F.R., Roodman, G.D., The genetics of Paget's disease of the bone (2001) J Clin Endocrinol Metab, 86, pp. 24-28
Leonard, J., Gokden, M., Kyriakos, M., Malignant giant-cell tumor of the parietal bone: Case report and review of the literature (2001) Neurosurgery, 48, pp. 424-429
Pathak, H.J., Nardi, P.M., Thornhill, B., Multiple giant cell tumors complicating Paget's disease (1999) AJR Am J Roentgenol, 172, pp. 1696-1697
Potter, H.G., Schneider, R., Ghelman, B., Multiple giant cell tumors and Paget disease of bone: Radiographic and clinical correlations (1991) Radiology, 180, pp. 261-264
Reddy, S.V., Kurihara, N., Menaa, C., Paget's disease of bone: A disease of the osteoclast (2001) Rev Endocr Metab Disord, 2, pp. 195-201
Ronca, M., Vuotto, P., Rendina, D., Effects of glucocorticoid therapy in giant cell tumor associated with Paget's bone disease: A possible role of the Pai-Pa system (1999) Ital J Miner Elect M, 13, pp. 45-47
Roux, S., Amazit, L., Meduri, G., RANK (receptor activator of nuclear factor kappa B) and RANK ligand are expressed in giant cell tumors of bone (2002) Am J Clin Pathol, 117, pp. 210-216
Singer, F.R., Paget's Disease of Bone (2001) Endocrinology. Ed 4, pp. 1258-1267. , DeGroot LJ, Jameson JL (eds). Philadelphia, WB Saunders Company
Siris, E.S., Epidemiological aspects of Paget's disease: Family history and relationship to other medical conditions (1994) Semin Arthritis Rheum, 23, pp. 222-225
Ueda, T., Healey, J.H., Huvos, A.G., Panicek, D.M., Scapular pain and swelling in a 60-year-old man with Paget's disease (1996) Clin Orthop, 326, pp. 284-286
Upchurch, K.S., Simon, L.S., Schiller, A.L., Giant cell reparative granuloma of Paget's disease of bone: A unique clinical entity (1983) Ann Intern Med, 98, pp. 35-40
Ward Sr., W.G., Kilpatrick, S., Fine needle aspiration biopsy of primary bone tumors (2000) Clin Orthop, 373, pp. 80-87
Wu, R.K., Trumble, T.E., Ruwe, P.A., Familial incidence of Paget's disease and secondary osteogenic sarcoma: A report of three cases from a single family (1991) Clin Orthop, 265, pp. 306-309
Ziambaras, K., Totty, W.A., Teitelbaum, S.L., Extraskeletal osteoclastomas responsive to dexamethasone treatment in Paget bone disease (1997) J Clin Endocrinol Metab, 82, pp. 3826-3834
Clinical Orthopaedics And Related Research (ISSN: 0009-921x), 2004 Apr; (421): 218-224.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 1.403, 5-year impact factor: 3.189
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-2342476513&partnerID=40&md5=c29a1705e97b375f44e32bc48c948c07
Keywords: Bisphosphonic Acid Derivative, Clodronic Acid, Cobalt 60, Dexamethasone, Pamidronic Acid, Salcatonin, Adult, Aged, Article, Benign Tumor, Bone Biopsy, Clinical Article, Computer Assisted Tomography, Environmental Factor, Family Study, Female, Genetic Linkage, Giant Cell Tumor, Human, Human Tissue, Italy, Paget Bone Disease, Pedigree Analysis, Priority Journal, Tumor Classification, Tumor Diagnosis, Bone Neoplasms, Giant Cell Tumor Of Bone, Middle Aged, Osteitis Deformans,
Affiliations:
*** IBB - CNR ***
Dept. of Clin. and Exp. Medicine, Federico II Univ. Medical School, Naples, Italy
Dept. of Biomorphol. and Funct. Sci., Dept. of Diagn. Imaging/Radiother., Federico II Univ. Medical School, Naples, Italy
National Research Council (CNR), Biostruct. and Bioimaging Institute, Federico II Univ. Medical School, Naples, Italy
Dept. of Funct. and Morphol. Sci., Section of Pathology, Federico II Univ. Medical School, Naples, Italy
Dipto. di Med. Clin. e Sperimentale, Universitá Federico II, via S. Pansini, 5, 80131, Naples, Italy
References:
Altman, R.D., Paget's Disease of Bone (2002) Disorders of Bone and Mineral Metabolism. Ed 2, pp. 985-1020. , Coe FL, Favus MJ (eds). Philadelphia, Lippincott Williams & Wilkin
Bertoni, F., Unni, K.K., Beabout, J.W., Giant cell tumor of the skull (1992) Cancer, 70, pp. 1124-1132
Cummins, C.A., Scarborough, M.T., Enneking, W.F., Multicentric giant cell tumor of bone (1996) Clin Orthop, 322, pp. 245-252
Gebhart, M., Vandeweyer, E., Nemec, E., Paget's disease of bone complicated by giant cell tumor (1998) Clin Orthop, 352, pp. 187-193
Good, D.A., Busfield, F., Fletcher, B.H., Linkage of Paget disease of bone to a novel region on human chromosome 18q23 (2002) Am J Hum Genet, 70, pp. 517-525
Grimer, R.J., Cannon, S.R., Taminiau, A.M., Osteosarcoma over the age of forty (2003) Eur J Cancer, 39, pp. 157-163
Hadjipavlou, A., Lander, P., Srolovitz, H., Malignant transformation in Paget disease of bone (1992) Cancer, 70, pp. 2802-2808
Haibach, H., Farrell, C., Dittrich, F.J., Neoplasm arising in Paget's disease of bone: A study of 82 cases (1985) Am J Clin Pathol, 83, pp. 594-600
Hocking, L.J., Herbert, C.A., Nicholls, R.K., Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p 13, and 5q35 (2001) Am J Hum Genet, 69, pp. 1055-1061
Hughes, A.E., Ralston, S.H., Marken, J., Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis (2000) Nat Genet, 24, pp. 45-48
Jacobs, T.P., Michelsen, J., Polay, J.S., Giant cell tumor in Paget's disease of bone: Familial and geographic clustering (1979) Cancer, 44, pp. 742-747
Laurin, N., Brown, J.P., Lemainque, A., Paget disease of bone: Mapping of two loci at 5q35-qter and 5q31 (2001) Am J Hum Genet, 69, pp. 528-543
Leach, R.J., Singer, F.R., Roodman, G.D., The genetics of Paget's disease of the bone (2001) J Clin Endocrinol Metab, 86, pp. 24-28
Leonard, J., Gokden, M., Kyriakos, M., Malignant giant-cell tumor of the parietal bone: Case report and review of the literature (2001) Neurosurgery, 48, pp. 424-429
Pathak, H.J., Nardi, P.M., Thornhill, B., Multiple giant cell tumors complicating Paget's disease (1999) AJR Am J Roentgenol, 172, pp. 1696-1697
Potter, H.G., Schneider, R., Ghelman, B., Multiple giant cell tumors and Paget disease of bone: Radiographic and clinical correlations (1991) Radiology, 180, pp. 261-264
Reddy, S.V., Kurihara, N., Menaa, C., Paget's disease of bone: A disease of the osteoclast (2001) Rev Endocr Metab Disord, 2, pp. 195-201
Ronca, M., Vuotto, P., Rendina, D., Effects of glucocorticoid therapy in giant cell tumor associated with Paget's bone disease: A possible role of the Pai-Pa system (1999) Ital J Miner Elect M, 13, pp. 45-47
Roux, S., Amazit, L., Meduri, G., RANK (receptor activator of nuclear factor kappa B) and RANK ligand are expressed in giant cell tumors of bone (2002) Am J Clin Pathol, 117, pp. 210-216
Singer, F.R., Paget's Disease of Bone (2001) Endocrinology. Ed 4, pp. 1258-1267. , DeGroot LJ, Jameson JL (eds). Philadelphia, WB Saunders Company
Siris, E.S., Epidemiological aspects of Paget's disease: Family history and relationship to other medical conditions (1994) Semin Arthritis Rheum, 23, pp. 222-225
Ueda, T., Healey, J.H., Huvos, A.G., Panicek, D.M., Scapular pain and swelling in a 60-year-old man with Paget's disease (1996) Clin Orthop, 326, pp. 284-286
Upchurch, K.S., Simon, L.S., Schiller, A.L., Giant cell reparative granuloma of Paget's disease of bone: A unique clinical entity (1983) Ann Intern Med, 98, pp. 35-40
Ward Sr., W.G., Kilpatrick, S., Fine needle aspiration biopsy of primary bone tumors (2000) Clin Orthop, 373, pp. 80-87
Wu, R.K., Trumble, T.E., Ruwe, P.A., Familial incidence of Paget's disease and secondary osteogenic sarcoma: A report of three cases from a single family (1991) Clin Orthop, 265, pp. 306-309
Ziambaras, K., Totty, W.A., Teitelbaum, S.L., Extraskeletal osteoclastomas responsive to dexamethasone treatment in Paget bone disease (1997) J Clin Endocrinol Metab, 82, pp. 3826-3834
Giant cell tumor and Paget's disease of bone in one family: geographic clustering
Giant cell tumor is a rare complication of Paget's disease of bone. Typically, this tumor occurs in the case of polyostotic disease and only in pagetic bones. This tumor rarely has been seen in multiple family members who have Paget's disease, although Paget's bone disease clearly has a hereditary component. Our report documents four cases of polyostotic Paget's bone disease complicated by benign giant cell tumor. In two patients, the giant cell tumor also was multifocal. All patients were from one family. They were born in Avellino and reside in Campania, a Southern Italian region. The ancestors of the patients with familial giant cell tumor in Paget's bone disease were born in the same geographic area. These data suggest that a combination of environmental and genetic factors could be responsible for linkage of the patients born in Avellino with this neoplasm that is highly unusual in patients with Paget's disease of bone.
Giant cell tumor is a rare complication of Paget's disease of bone. Typically, this tumor occurs in the case of polyostotic disease and only in pagetic bones. This tumor rarely has been seen in multiple family members who have Paget's disease, although Paget's bone disease clearly has a hereditary component. Our report documents four cases of polyostotic Paget's bone disease complicated by benign giant cell tumor. In two patients, the giant cell tumor also was multifocal. All patients were from one family. They were born in Avellino and reside in Campania, a Southern Italian region. The ancestors of the patients with familial giant cell tumor in Paget's bone disease were born in the same geographic area. These data suggest that a combination of environmental and genetic factors could be responsible for linkage of the patients born in Avellino with this neoplasm that is highly unusual in patients with Paget's disease of bone.
Giant cell tumor and Paget's disease of bone in one family: geographic clustering
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Giant cell tumor and Paget's disease of bone in one family: geographic clustering
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