At-risk populations for osteosarcoma: The syndromes and beyond

Sarcoma

Volumn 2012, Issue , 2012, Pages

  Calvert, George T ^a,b   Randall, R Lor ^a,b   Jones, Kevin B ^a,b   Cannon Albright, Lisa ^a   Lessnick, Stephen ^a,b   Schiffman, Joshua D ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; RECQ HELICASE;

BLACKFAN DIAMOND ANEMIA; BLOOM SYNDROME; CANCER CHEMOTHERAPY; CANCER RISK; CLINICAL FEATURE; DISEASE PREDISPOSITION; FAMILIAL CANCER; FAMILY; GENETIC PREDISPOSITION; GENETIC SCREENING; HEREDITY; HUMAN; OSTEOSARCOMA; PATHOGENESIS; PRACTICE GUIDELINE; PRIORITY JOURNAL; RETINOBLASTOMA; REVIEW; ROTHMUND THOMSON SYNDROME; SCREENING; WERNER SYNDROME;

EID: 84859706280     PISSN: 1357714X     EISSN: 13691643     Source Type: Journal    
DOI: 10.1155/2012/152382     Document Type: Review

References (78)

1. Mirabello L., Troisi R. J., Savage S. A., International osteosarcoma incidence patterns in children and adolescents, middle ages and elderly persons International Journal of Cancer 2009 125 1 229 234
2. Savage S. A., Mirabello L., Using epidemiology and genomics to understand osteosarcoma etiology Sarcoma 2011 2011 13
3. Hauben E. I., Arends J., Vandenbroucke J. P., van Asperen C. J., Van Marck E., Hogendoorn P. C. W., Multiple primary malignancies in osteosarcoma patients. Incidence and predictive value of osteosarcoma subtype for cancer syndromes related with osteosarcoma European Journal of Human Genetics 2003 11 8 611 618 (Pubitemid 37038776)
4. Ji J., Hemminki K., Familial risk for histology-specific bone cancers: an updated study in Sweden European Journal of Cancer 2006 42 14 2343 2349 (Pubitemid 44307613)
5. Li F. P., Fraumeni J. F., Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Annals of Internal Medicine 1969 71 4 747 752
6. Srivastava S., Zou Z., Pirollo K., Blattner W., Chang E. H., Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome Nature 1990 348 6303 747 749 (Pubitemid 120015153)
7. Malkin D., Li F. P., Strong L. C., Fraumeni J. F., Nelson C. E., Kim D. H., Kassel J., Gryka M. A., Bischoff F. Z., Tainsky M. A., Friend S. H., Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms Science 1990 250 4985 1233 1238 (Pubitemid 120031831)
8. Royds J. A., Iacopetta B., p53 and disease: when the guardian angel fails Cell Death and Differentiation 2006 13 6 1017 1026
9. Birch J. M., Hartley A. L., Tricker K. J., Prosser J., Condie A., Kelsey A. M., Harris M., Jones P. H. M., Binchy A., Crowther D., Craft A. W., Eden O. B., Evans D. G. R., Thompson E., Mann J. R., Martin J., Mitchell E. L. D., Santibanez-Koref M. F., Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families Cancer Research 1994 54 5 1298 1304 (Pubitemid 24108072)
10. Garber J. E., Goldstein A. M., Kantor A. F., Dreyfus M. G., Fraumeni J. F., Li F. P., Follow-up study of twenty-four families with Li-Fraumeni syndrome Cancer Research 1991 51 22 6094 6097
11. Evans D. G., Birch J. M., Narod S. A., Is CHEK2 a cause of the Li-Fraumeni syndrome? Journal of Medical Genetics 2008 45 1 63 64
12. Ruijs M. W. G., Broeks A., Menko F. H., Ausems M. G. E. M., Wagner A., Oldenburg R., Meijers-Heijboer H., van't Veer L. J., Verhoef S., The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype Hereditary Cancer in Clinical Practice 2009 7 1, article 4
13. Li F. P., Fraumeni J. F., Mulvihill J. J., Blattner W. A., Dreyfus M. G., Tucker M. A., Miller R. W., A cancer family syndrome in twenty-four kindreds Cancer Research 1988 48 18 5358 5362
14. Birch J. M., Hartley A. L., Tricker K. J., Prosser J., Condie A., Kelsey A. M., Harris M., Jones P. H. M., Binchy A., Crowther D., Craft A. W., Eden O. B., Evans D. G. R., Thompson E., Mann J. R., Martin J., Mitchell E. L. D., Santibanez-Koref M. F., Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families Cancer Research 1994 54 5 1298 1304 (Pubitemid 24108072)
15. Olivier M., Goldgar D. E., Sodha N., Ohgaki H., Kleihues P., Hainaut P., Eeles R. A., Li-fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype Cancer Research 2003 63 20 6643 6650 (Pubitemid 37322942)
16. Ognjanovic S., Oliver M., Bergemann T. L., Hainaut P., Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database. Cancer. In press
17. Tabori U., Malkin D., Risk stratification in cancer predisposition syndromes: lessons learned from novel molecular developments in Li-Fraumeni syndrome Cancer Research 2008 68 7 2053 2057 (Pubitemid 351521773)
18. Choong P. F. M., Broadhead M. L., Clark J. C. M., Myers D. E., Dass C. R., The molecular pathogenesis of osteosarcoma: a review Sarcoma 2011 2011 12
19. Wang L. L., Biology of osteogenic sarcoma Cancer Journal 2005 11 4 294 305 (Pubitemid 44698796)
20. Evans D. G. R., Birch J. M., Ramsden R. T., Sharif S., Baser M. E., Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes Journal of Medical Genetics 2006 43 4 289 294
21. Heymann S., Delaloge S., Rahal A., Caron O., Frebourg T., Barreau L., Pachet C., Mathieu M.-C., Marsiglia H., Bourgier C., Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome Radiation Oncology 2010 5 1, article 104
22. Monsalve J., Kapur J., Malkin D., Babyn P. S., Imaging of cancer predisposition syndromes in children Radiographics 2011 31 1 263 280
23. Villani A., Tabori U., Schiffman J., Shlien A., Beyene J., Druker H., Novokmet A., Finlay J., Malkin D., Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study The Lancet Oncology 2011 12 6 559 567
24. Chompret A., Abel A., Stoppa-Lyonnet D., Brugires L., Pags S., Feunteun J., Bonati-Pellié C., Sensitivity and predictive value of criteria for p53 germline mutation screening Journal of Medical Genetics 2001 38 1 43 47 (Pubitemid 32102322)
25. Tinat J., Bougeard G., Baert-Desurmont S., Vasseur S., Martin C., Bouvignies E., Caron O., BrigitteBressac-De Paillerets B., Berthet P., Dugast C., Bonati-Pellié C., Stoppa-Lyonnet D., Frébourg T., 2009 version of the Chompret criteria for Li Fraumeni syndrome Journal of Clinical Oncology 2009 27 26 e108 e109
26. Weitzel J. N., Gonzalez K. D., Noltner K. A., Buzin C. H., Gu D., Wen-Fong C. Y., Nguyen V. Q., Han J. H., Lowstuter K., Longmate J., Sommer S. S., Beyond li fraumeni syndrome: clinical characteristics of families with p53 germline mutations Journal of Clinical Oncology 2009 27 8 1250 1256
27. Dyer M. A., Bremner R., The search for the retinoblastoma cell of origin Nature Reviews Cancer 2005 5 2 91 101 (Pubitemid 40215858)
28. Kivel T., The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death British Journal of Ophthalmology 2009 93 9 1129 1131
29. Broaddus E., Topham A., Singh A. D., Survival with retinoblastoma in the USA: 19752004 British Journal of Ophthalmology 2009 93 1 24 27
30. Shields C. L., Shields J. A., Retinoblastoma management: advances in enucleation, intravenous chemoreduction, and intra-arterial chemotherapy Current Opinion in Ophthalmology 2010 21 3 203 212
31. Knudson A. G., Mutation and cancer: statistical study of retinoblastoma Proceedings of the National Academy of Sciences of the United States of America 1971 68 4 820 823
32. Friend S. H., Bernards R., Rogelj S., A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma Nature 1986 323 6089 643 646 (Pubitemid 16008560)
33. MacCarthy A., Bayne A. M., Draper G. J., Eatock E. M., Kroll M. E., Stiller C. A., Vincent T. J., Hawkins M. M., Jenkinson H. C., Kingston J. E., Neale R., Murphy M. F. G., Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004 British Journal of Ophthalmology 2009 93 9 1159 1162
34. Jones K. B., Osteosarcomagenesis: modeling cancer initiation in the mouse Sarcoma 2011 2011 10
35. Ottaviani G., Jaffe N., The etiology of osteosarcoma Cancer Treatment and Research 2009 152 15 32
36. Nielsen G. P., Burns K. L., Rosenberg A. E., Louis D. N., CDKN2A gene deletions and loss of p16 expression occur in osteosarcomas that lack RB alterations American Journal of Pathology 1998 153 1 159 163 (Pubitemid 28317518)
37. Serena Benassi M., Molendini L., Gamberi G., Ragazzini P., Rosa Sollazzo M., Merli M., Asp J., Magagnoli G., Alteration of prb/p16/cdk4 regulation in human osteosarcoma International Journal of Cancer 1999 84 5 489 493
38. Wei G., Lonardo F., Ueda T., Kim T., Huvos A. G., Healey J. H., Ladanyi M., CDK4 gene amplification in osteosarcoma: reciprocal relationship with INK4A gene alterations and mapping of 12q13 amplicons International Journal of Cancer 1999 80 2 199 204 (Pubitemid 29001722)
39. MacCarthy A., Bayne A. M., Draper G. J., Eatock E. M., Kroll M. E., Stiller C. A., Vincent T. J., Hawkins M. M., Jenkinson H. C., Kingston J. E., Neale R., Murphy M. F. G., Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004 British Journal of Ophthalmology 2009 93 9 1159 1162
40. Wong F. L., Boice J. D., Abramson D. H., Tarone R. E., Kleinerman R. A., Stovall M., Goldman M. B., Seddon J. M., Tarbell N., Fraumeni J. F., Li F. P., Cancer incidence after retinoblastoma: radiation dose and sarcoma risk JAMA 1997 278 15 1262 1267 (Pubitemid 27435614)
41. Fletcher O., Easton D., Anderson K., Gilham C., Jay M., Peto J., Lifetime risks of common cancers among retinoblastoma survivors Journal of the National Cancer Institute 2004 96 5 357 363 (Pubitemid 38401013)
42. Fletcher O., Easton D., Anderson K., Gilham C., Jay M., Peto J., Lifetime risks of common cancers among retinoblastoma survivors Journal of the National Cancer Institute 2004 96 5 357 363 (Pubitemid 38401013)
43. MacCarthy A., Bayne A. M., Draper G. J., Eatock E. M., Kroll M. E., Stiller C. A., Vincent T. J., Hawkins M. M., Jenkinson H. C., Kingston J. E., Neale R., Murphy M. F. G., Non-ocular tumours following retinoblastoma in Great Britain 1951 to 2004 British Journal of Ophthalmology 2009 93 9 1159 1162
44. Shields C. L., Shields J. A., Retinoblastoma management: advances in enucleation, intravenous chemoreduction, and intra-arterial chemotherapy Current Opinion in Ophthalmology 2010 21 3 203 212
45. Patio-Garca A., Sotillo Pieiro E., Zalacan Dez M., Grate Iturriagagoitia L., Antilln Klssmann F., Sierrasesmaga Ariznabarreta L., Genetic and epigenetic alterations of the cell cycle regulators and tumor suppressor genes in pediatric osteosarcomas Journal of Pediatric Hematology/Oncology 2003 25 5 362 367
46. Parulekar M. V., Retinoblastomacurrent treatment and future direction Early Human Development 2010 86 10 619 625
47. Sheen V., Tucker M. A., Abramson D. H., Seddon J. M., Kleinerman R. A., Cancer screening practices of adult survivors of retinoblastoma at risk of second cancers Cancer 2008 113 2 434 441
48. Serrano C., Alonso J., Gmez-Mariano G., Aguirre E., Diez O., Gadea N., Bosch N., Balmaa J., Graa B., Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up? Familial Cancer 2011 10 3 617 621
49. Bruinooge S. S., American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility Journal of Clinical Oncology 2003 21 12 2397 2406 (Pubitemid 46908372)
50. Abramson D. H., Beaverson K., Sangani P., Vora R. A., Lee T. C., Hochberg H. M., Kirszrot J., Ranjithan M., Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival Pediatrics 2003 112 6 1248 1255 (Pubitemid 37523403)
51. Sippel K. C., Fraioli R. E., Smith G. D., Schalkoff M. E., Sutherland J., Gallie B. L., Dryja T. P., Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling American Journal of Human Genetics 1998 62 3 610 619 (Pubitemid 28164618)
52. Bohr V. A., Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance Trends in Biochemical Sciences 2008 33 12 609 620
53. Monnat R. J. Jr., Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology Seminars in Cancer Biology 2010 20 5 329 339
54. Wang L. L., Levy M. L., Lewis R. A., Chintagumpala M. M., Lev D., Rogers M., Plon S. E., Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients American Journal of Medical Genetics 2001 102 1 11 17 (Pubitemid 32623258)
55. Kitao S., Shimamoto A., Goto M., Miller R. W., Smithson W. A., Lindor N. M., Furuichi Y., Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome Nature Genetics 1999 22 1 82 84 (Pubitemid 29214810)
56. Larizza L., Roversi G., Volpi L., Rothmund-thomson syndrome Orphanet Journal of Rare Diseases 2010 5 1, article 2
57. Macris M. A., Krejci L., Bussen W., Shimamoto A., Sung P., Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome DNA Repair 2006 5 2 172 180 (Pubitemid 43069518)
58. Stinco G., Governatori G., Mattighello P., Patrone P., Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review The Journal of Dermatology 2008 35 3 154 161 (Pubitemid 351421276)
59. Wang L. L., Gannavarapu A., Kozinetz C. A., Levy M. L., Lewis R. A., Chintagumpala M. M., Ruiz-Maldanado R., Contreras-Ruiz J., Cunniff C., Erickson R. P., Lev D., Rogers M., Zackai E. H., Plon S. E., Association between osteosarcoma and deleterious mutations in the RECQL4 gene Rothmund-Thomson syndrome Journal of the National Cancer Institute 2003 95 9 669 674 (Pubitemid 36603723)
60. Kriinen H., Ryoppy S., Norio R., RAPADILIMO syndrome with radial and patellar aplasia/hypoplasia as main manifestations American Journal of Medical Genetics 1989 33 3 346 351 (Pubitemid 19216875)
61. Siitonen H. A., Kopra O., Kriinen H., Haravuori H., Winter R. M., Smnen A. M., Peltonen L., Kestil M., Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases Human Molecular Genetics 2003 12 21 2837 2844 (Pubitemid 37407120)
62. Siitonen A. H., Sotkasiira J., Biervliet M., Benmansour A., Capri Y., Cormier-Daire V., Crandall B., Hannula-Jouppi K., Hennekam R., Herzog D., Keymolen K., Lipsanen-Nyman M., Miny P., Plon S. E., Riedl S., Sarkar A., Vargas F. R., Verloes A., Wang L. L., Kriinen H., Kestil M., The mutation spectrum in RECQL4 diseases European Journal of Human Genetics 2009 17 2 151 158
63. Nakura J., Wijsman E. M., Miki T., Kamino K., Yu C. E., Oshima J., Fukuchi K. I., Weber J. L., Piussan C., Melaragno M. I., Epstein C. J., Scappaticci S., Fraccaro M., Matsumura T., Murano S., Yoshida S., Fujiwara Y., Saida T., Schellenberg G. D., Homozygosity mapping of the Werner syndrome locus (WRN) Genomics 1994 23 3 600 608 (Pubitemid 24338647)
64. Goto M., Hierarchical deterioration of body systems in Werner's syndrome: implications for normal ageing Mechanisms of Ageing and Development 1997 98 3 239 254 (Pubitemid 27466061)
65. Yu C. E., Oshima J., Fu Y. H., Wijsman E. M., Hisama F., Alisch R., Matthews S., Nakura J., Miki T., Ouais S., Martin G. M., Mulligan J., Schellenberg G. D., Positional cloning of the Werner's syndrome gene Science 1996 272 5259 258 262 (Pubitemid 26119137)
66. Goto M., Miller R. W., Ishikawa Y., Sugano H., Excess of rare cancers in Werner syndrome (adult progeria) Cancer Epidemiology, Biomarkers Prevention 1996 5 4 239 246
67. Ishikawa Y., Miller R. W., Machinami R., Sugano H., Goto M., Atypical osteosarcomas in Werner Syndrome (Adult Progeria) Japanese Journal of Cancer Research 2000 91 12 1345 1349 (Pubitemid 32042371)
68. Ellis N. A., Groden J., Ye T. Z., Straughen J., Lennon D. J., Ciocci S., Proytcheva M., German J., The Bloom's syndrome gene product is homologous to RecQ helicases Cell 1995 83 4 655 666
69. Ellis N. A., Ciocci S., Proytcheva M., Lennon D., Groden J., German J., The Ashkenazic Jewish bloom syndrome mutation blm(Ash) is present in non-Jewish Americans of Spanish ancestry American Journal of Human Genetics 1998 63 6 1685 1693 (Pubitemid 30415731)
70. German J., Bloom's syndrome. XX. The first 100 cancers Cancer Genetics and Cytogenetics 1997 93 1 100 106 (Pubitemid 27102494)
71. Li L., Eng C., Desnick R. J., German J., Ellis N. A., Carrier frequency of the Bloom syndrome blm(Ash) mutation in the Ashkenazi Jewish population Molecular Genetics and Metabolism 1998 64 4 286 290 (Pubitemid 28460228)
72. Lipton J. M., Atsidaftos E., Zyskind I., Vlachos A., Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry Pediatric Blood and Cancer 2006 46 5 558 564
73. Vlachos A., Ball S., Dahl N., Alter B. P., Sheth S., Ramenghi U., Meerpohl J., Karlsson S., Liu J. M., Leblanc T., Paley C., Kang E. M., Leder E. J., Atsidaftos E., Shimamura A., Bessler M., Glader B., Lipton J. M., Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference British Journal of Haematology 2008 142 6 859 876
74. Doherty L., Sheen M. R., Vlachos A., Choesmel V., O'Donohue M. F., Clinton C., Schneider H. E., Sieff C. A., Newburger P. E., Ball S. E., Niewiadomska E., Matysiak M., Glader B., Arceci R. J., Farrar J. E., Atsidaftos E., Lipton J. M., Gleizes P. E., Gazda H. T., Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia American Journal of Human Genetics 2010 86 2 222 228
75. Draptchinskaia N., Gustavsson P., Andersson B., Pettersson M., Willig T. N., Dianzani I., Ball S., Tchernia G., Klar J., Matsson H., Tentler D., Mohandas N., Carlsson B., Dahl N., The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia Nature Genetics 1999 21 2 169 175 (Pubitemid 29070361)
76. Lee R. S., Higgs D., Haddo O., Pringle J., Briggs T. W. R., Osteosarcoma associated with Diamond-Blackfan anaemia: a case of a child receiving growth hormone therapy Sarcoma 2004 8 1 47 49 (Pubitemid 38429263)
77. Merks J. H. M., Caron H. N., Hennekam R. C. M., High incidence of malformation syndromes in a series of 1,073 children with cancer American Journal of Medical Genetics 2005 134 2 132 143 (Pubitemid 40446208)
78. Villani A., Tabori U., Schiffman J., Shlien A., Beyene J., Druker H., Novokmet A., Finlay J., Malkin D., Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study The Lancet Oncology 2011 12 6 559 567