Update on the cytogenetics and molecular genetics of chordoma

Hereditary Cancer in Clinical Practice

Volumn 3, Issue 1, 2005, Pages 29-41

  Larizza, Lidia ^a   Mortini, Pietro ^b   Riva, Paola ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

Author keywords

1p36 LOH; 7q33 linkage; Chordoma; TSC association

Indexed keywords

BIOLOGICAL MARKER;

ADOLESCENT; ADULT; CHORDOMA; CHROMOSOME 1P; CHROMOSOME 7Q; CHROMOSOME ABERRATION; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE TARGETING; GENETIC LINKAGE; GENOME ANALYSIS; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KARYOTYPE; MALE; MESENCHYME; MOLECULAR GENETICS; ONCOGENE; PROGNOSIS; REVIEW; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS;

EID: 16344389776     PISSN: 17312302     EISSN: None     Source Type: Journal    
DOI: 10.1186/1897-4287-3-1-29     Document Type: Review

References (95)

1. Batsakis JG. Tumors of the Head and Neck. Williams and Wilkins, Baltimore, 1979.
2. McMaster ML, Goldstein AM, Bromley CM, Ishibe N and Parry DM. Chordoma: incidence and survival patterns in the United States, 1973-1995. Cancer Causes Control 2001; 12: 1-11.
3. Weber AL, Brown EW, Hug EB and Liebsch NJ. Cartilaginous tumors and chordomas of the cranial base. Otolaryngol Clin North Am 1995; 28: 453-471.
4. Mirra JM, Nelson SD, Della Rocca C and Mertens F. Chordoma. In: Fletcher CDM, Unni KK and Mertens F. editors. Pathology and Genetics of Tumors of Soft Tissue and Bone. World Health Organization Classification of Tumors. Lyon: IARC press 2002, pp 315-317.
5. Harrison DF and Lund VJ. Tumours of the Upper Jaw. Churchill Livingstone, Edinburgh, 1995.
6. Binkhorst CD, Schierbeek P and Petten GJW. Neoplasms of the notochord. Acta Otolaryngol 1957; 47: 10-20.
7. Shugar JM, Som PM, Krespi YP, Arnold LM and Som ML. Primary chordoma of the maxillary sinus. Laryngoscope 1980; 90: 1825-1830.
8. Perzin KH and Pushparaj N. Nonepithelial tumors of the nasal cavity, paranasal sinuses, and nasopharynx. A clinicopathologic study. XIV: Chordomas. Cancer 1986; 57: 784-796.
9. Stepanek J, Cataldo SA, Ebersold MJ, Lindor NM, Jenkins RB, Unni K, Weinshenker BG and Rubenstein RL. Familial chordoma with probable autosomal dominant inheritance. Am J Med Genet 1998; 75: 335-336.
10. Dalprà L, Malgara R, Mozzo M, Riva P, Volonte M, Larizza L and Fuhrman Conti AM. First cytogenetic study of a recurrent familial chordoma of the clivus. Int J Cancer 1999; 81 (1): 24-30.
11. Miozzo M, Dalprà L, Riva P, Volonté M, Macciardi F, Pericotti S, Tibiletti MG, Cerati M, Rhode K, Larizzo L and Fuhrman Conti AM. A tumor suppressor locus in familial and sporadic chordoma maps to 1p36. Int J Cancer 2000; 7 (1): 68-72.
12. Kelley MJ, Korczak JF, Sheridan E, Yang X, Goldstein AM and Parry DM. Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. Am J Hum Genet 2001; 69: 454-460.
13. Lee-Jones L, Aligianis I, Davies PA, Puga A, Farndon PA, Stemmer-Rachamomov A, Ramesh V and Sampson JR. Sacrococcygeal chordomas in patients with Tuberous Sclerosis Complex show somatic loss of TSC1 or TSC2. Genes Chrom Cancer 2004; 41: 80-85.
14. Oikawa S, Kyoshima K, Goto T, Iwashita T, Takizawa T, Kobayashi S and Ito M. Histological study on local invasiveness of clival chordoma. Case report of autopsy. Acta Neurochir (Wien) 2001; 143: 1065-1069.
15. Higinbotham NL, Phillips RF, Farr HW and Hustu HO. Chordoma: thirty-five year study at the Memorial Hospital. Cancer 1967; 20: 1841-1850.
16. Gay E, Sekhar LN, Rubinstein E, Wright DC, Sen C, Janecka IP and Snyderman CH. Chordomas and chondrosarcomas of the cranial base: results and follow-up of 60 patients. Neurosurgery 1995; 36: 887-897.
17. Hug EB, Loredo LN, Slater JD, DeVries A, Grove RI, Schaefer RA, Rosenberg AE and Slater JM. Proton radiation therapy for chordomas and chondrosarcomas of the skull base. J Neurosurg 1999; 91: 432-439.
18. Volpe NJ, Liebsch NJ, Munzenrider JE and Lessell S. Neuro-ophthalmologic findings in chordoma and chondrosarcoma of the skull base. Am J Ophthalmol 1993; 115: 97-104.
19. Rosenberg AE, Nielsen GP, Keel SB, Renard LG, Fitzek MM, Munzenrider JE and Liebsch NJ. Chondrosarcoma of the base of the skull: a clinicopathologic study of 200 cases with emphasis on its distinction from chordoma. Am J Surg Pathol 1999; 23: 1370-1378.
20. Crockard HA, Steel T, Plowman N, Singh A, Crossman J, Revesz T, Holton JL and Cheeseman A. A multidisciplinary team approach to skull base chordomas. J Neurosurg 2001; 95: 175-183.
21. Zorlu F, Gurkaynak M, Yildiz F, Oge K and Atahan IL. Conventional external radiotherapy in the management of clivus chordomas with overt residual disease. Neurol Sci 2000; 21: 203-207.
22. Colli B and Al-Mefty O. Chordomas of the craniocervical junction: follow-up review and prognostic factors. J Neurosurg 2001; 95: 933-943.
23. Forsith PA, Cascino TL, Shaw EG, Scheithauer BW, O'Fallon JR, Dozier JC and Piepgras DG. Intracranial chordomas: a clinicopathological and prognostic study of 51 cases. J Neurosurg 1993; 78: 741-747.
24. O'Connell JX, Renard LG and Liebsch NJ. Base of skull chordoma: a correlative study of histologic and clinical features of 62 cases. Cancer 1994; 74: 2261-2267.
25. Heffelfinger MJ, Dahlin DC, MacCarty CS and Beabout JW. Chordomas and cartilagineous tumors at the skull base. Cancer 1973; 32: 410-420.
26. Moriki T, Takahashi T, Wada M, Ueda S, Ichien M and Miyazaki E. Chondroid chordoma: fine-needle aspiration cytology with histopathological, immunohistochemical, and ultrastructural study of two cases. Diagn Cytopathol 1999; 21: 335-339.
27. Saito A, Hasegawa T, Shimoda T, Toda G, Hirobashi S, Tajima G and Moriya Y. Dedifferentiated chordoma: a case report. Jpn J Clin Oncol 1998; 28: 766-771.
28. Bottles K and Beckstead JH. Enzyme histochemical characterization of chordomas. Am J Surg Pathol 1984; 8: 443-447.
29. Walker WP, Landas SK, Bromley CM and Sturm MT. Immunohistochemical distinction of classic and chondroid chordomas. Mod Pathol 1991; 4: 661-666.
30. Wojino KJ, Hruban RH, Garin-Chesa P and Huvos AG. Chondroid chordomas and low grade chondrosarcomas of the craniospinal axis. Am J Surg Pathol 1992; 16: 1144-1152.
31. Bouropoulou V, Bosse A, Roessner A, Vollmer E, Edel G, Wuisman P and Harle A. Immunohistochemical investigation of chordomas: histogenetic and differential diagnostic aspects. Current Topics in Pathology 1989; 80: 183-203.
32. Salisbury JR. Embryology and pathology of the human notochord. Ann Pathol 2001; 21: 479-488.
33. Zavala G and Vazquez-Nin GH. Analysis of nuclear ribonucleoproteic structures during notochordal cell differentiation and maturation in chick embryos. Anat Rec 2000; 259: 113-123.
34. Aguiar DJ, Johnson SL and Oegema TR. Notochordal cells interact with nucleus pulposus cells: regulation of proteoglycan synthesis. Exp Cell Res 1999 Jan 10; 246 (1): 129-137.
35. Ulich TR and Mirra JM. Ecchordosis physaliphora vertebralis. Clin Orthop 1982; 163: 282-289.
36. Jaffe HL. Tumors and Tumorous Conditions of the Bone and Joints. Philadelphia: Lea and Febiger, 1958; pp. 451-461.
37. Darby AJ, Cassar-Pullicino VN, McCall IW and Jaffray DC. Vertebral intra-osseous chordoma or giant notochordal rest? Skeletal Radiol 1999; 28: 342-346.
38. Kryakos M, Totty WG and Lenke LG. Giant vertebral notochordal rest. Am J Surg Pathol 2003; 27 (3): 396-406
39. Yamaguchi T, Yamato M and Saotome K. First histologically confirmed case of a classic chordoma arising in a precursor benign notochordal lesion: differential diagnosis of benign and malignant notochordal lesions. Skeletal Radiol 2002; 31: 413-418.
40. Yamaguchi T, Suzuki S, Ishiiwa H and Ueda Y. Intraosseous benign notochordal cell tumors: overlooked precursors of classic chordomas? Histopathology 2004; 44: 597-602.
41. Foote RF, Ablin G and Hall W. Chordoma in siblings. California Med 1958; 88: 383-386.
42. Enim IP. Khordoma nosoglotki u dvukh odnoi sem'l (Chordoma of the nasopharynx in two members of the same family). Westn Otorinolaringol 1963; 26: 88-90.
43. Kerr WA, Haynes DR and Sellars SL. Familial nasopharyngeal chordoma. S Afr Med 1975; 49: 1584.
44. Chetty R, Levin CV and Kalan MR. Chordoma: a 20-year clinicopathological review of the experience at Groote Schuur Hospital, Cape Town. J Surg Oncol 1991; 46: 261-264.
45. Korczak JF, Kelley MJ, Allikian KA, Shah AA, Goldstein AM and Parry DM. Genomic screening for linkage in a family with autosomal dominant chordoma. Am J Hum Genet 1997; 61: A400.
46. Riva P, Crosti F, Orzan F, Dalprà L, Mortini P, Parafioriti A, Pollo B, Fuhrman Conti AM, Miozzo M and Larizza L. Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis. Int J Cancer 2003; 107: 493-497.
47. Sawyers JR, Husain M and Al-Mefty O. Identification of isochromosome 1q as a recurring chromosome aberration in skull base chordomas: a new marker for aggressive tumors? Neurosurg Focus 2001; 10: 1-6.
48. Scheil S, Brüderlein S, Liehr T, Starke H, Herms J, Schulte M and Möller P. Genome-wide analysis of sixteen chordomas by comparative genomic hybridization and cytogenetics of the first human chordoma cell line, U-CH1. Genes Chromosomes Cancer 2001; 32: 203-211.
49. Van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R, van den Ouweland A, Reuser A, Sampson J, Halley D and van der Sluijs P. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998; 7: 1053-1057.
50. Hodges AK, Li S, Maynard J, Parry L, Braverman R, Cheadle JP, DeClue JE and Sampson JR. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Hum Mol Genet 2001; 10: 2899-2905.
51. Nellist M, Verhaaf B, Goedbloed MA, Reuser AJ, van den Ouweland AM and Halley DJ. TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. Hum Mol Genet 2001; 10: 2889-2898.
52. Dutton RV and Singleton EB. Tuberous sclerosis: a case report with aortic aneurysm and unusual rib changes. Pediatr Radiol 1975; 3: 184-186.
53. Schroeder BA, Wells RG, Starshak RJ and Sty JR. Clivus chordoma in a child with tuberous sclerosis: CT and MR demonstration. J Comput Assist Tomogr 1987; 11: 195-196.
54. Börgel J, Olschewski H, Reiter t, Miterski B and Epplen JT. Does the tuberous sclerosis complex include clivus chordoma? A case report. Eur J Pediatr 2001; 160: 138.
55. Sandberg AA and Bridge JA. Chordoma 1995. In: The Cytogenetics of Bone and Soft Tissue Tumors. Sandberg AA, Bridge JA (editors). RG Landers Co., Austin, pp. 251-255.
56. Butler MG, Dahir GA, Hedges LK, Juliao SF, Sciadini MF and Schwartz HS. Cytogenetic, telomere and telomerase studies in five surgically managed lumbosacral chordomas. Cancer Genet Cytogenet 1995; 85: 51-57.
57. Persons DL, Bridge JA and Neff JR. Cytogenetic analysis of two sacral chordomas. Cancer Genet Cytogenet 1991; 56: 197-201.
58. Kuzniacka A, Mertens F, Strombeck B, Wiegant J and Mandahl N. Combined binary ratio labeling fluorescence in situ hybridization analysis of chordoma. Cancer Genet Cytogenet 2004; 151: 178-181.
59. Gil Z, Fliss DM, Voskoboinik N, Leider-Trejo L, Spektor S, Yaron Y and Orr-Utreger A. Cytogenetic analysis of three variants of clival chordoma. Cancer Genet Cytogenet 2004; 154: 124-130.
60. Gibas Z, Miettinen M and Sabdberg AA. Chromosomal abnormalities in two chordomas. Cancer Genet Cytogenet 1992; 58: 169-173.
61. Chadduk WM, Boop FA and Sawyers JR. Cytogenetic studies of pediatric brain and spinal cord tumors. Pediatr Neurosurg 1992; 17: 57-65.
62. Mertens F, Kreicbergs A, Rydholm A, Willén H, Carlén B, Mitelman F and Mandhal N. Clonal chromosome aberrations in three sacral chordomas. Cancer Genet Cytogenet 1994; 73: 147-151.
63. Buonamici L, Roncaroli F, Fioravanti A, Losi L, Van den Berghe H, Calbucci F and Dal Cin P. Cytogenetic investigation of chordomas of the skull. Cancer Genet Cytogenet 1998; 112: 49-52.
64. Tallini G, Dorfman H, Brys P, Dal Cin P, De Wever I, Fletcher CDM, Jonson K, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Samson I, Sciot R, Van den Berghe H, Vanni R and Willén H. Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumors. A report from the Chromosome and Morphology (CHAMP) Collaborative Study Group. J Path 2002; 196: 194-203.
65. Brandal P, Bjerkehagen B, Danielsen H and Heim S. Chromosome 7 abnormalities are common in chordomas. Abstracts of the 9th European Workshop on Cytogenetics and Molecular Genetics of Human Solid Tumors, Brno, Czech Republic; September 16-19, 2004, p 52.
66. Hruban RH, Traganos F, Reuter VE and Huvos AG. A DNA flow cytometric and immunohistochemical study with histogenetic implications. Am J Pathol 1990; 137: 435-447.
67. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Ostarsvik KH, Monclair T, Robison S, Reardon W, Burn J, Scambler P and Strachan T. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 1998; 20: 358-361.
68. Eisenberg MB, Woloschak M, Sen C and Wolfe D. Loss of heterozygosity in the retinoblastoma tumor suppressor gene in skull base chordomas and chondrosarcomas. Surg Neurol 1997; 47: 156-160.
69. Klingler L, Shooks J, Fiedler PN, Marney A, Butler MG and Schwarte HS. Microsatellite instability in sacral chordoma. J Surg Oncol 2000; 73: 100-103.
70. Matsuno A, Sasaki T, Nagashima T, Matsuura R, Tanaka H, Hirakawa M, Murakami M and Kirino T. Immunohistochemical examination of proliferative potentials and the expression of cell cycle-related proteins of intracranial chordomas. Hum Pathol 1997; 28: 714-719.
71. Ragnarsson G, Eiriksdottir G, Johannsdottir JT, Jonasson JG, Egilsson V and Ingvarsson S. Loss of heterozygosity at chromosome 1p in different solid human tumours: association with survival. Br J Cancer 1999; 79: 1468-1474.
72. Maris JM, Guo C, Blake D, White PS, Hogarty MD, Thompson PM, Rajalingam V, Gerbing R, Stram DO, Matthay KK, Seeger RC and Brodeur GM. Comprehensive analysis of chromosome 1p deletions in neuroblastoma. Med Pediatr Oncol 2000; 36: 32-36.
73. Gastman BR, Johnson DE, Whiteside TL and Rabinowich H. Tumor-induced apoptosis of T lymphocytes: elucidation of intracellular apoptotic events. Blood 2000 15; 95: 2015-2023.
74. Naruse-Nakajima C, Asano M and Iwakura Y. Involvement of EphA2 in the formation of the tail notochord via interaction with ephrinA1. Mech Dev 2001; 102: 95-105.
75. Ogawa Y, Nishioka A, Inomata T, Kataoka S, Nakayama K, Kariya S, Terashima M, Kubonishi I and Yoshida S. Ionizing radiation-induced apoptosis in human lymphoma cell lines differing in p53 status. Int J Mol Med 2000; 5: 139-143.
76. Wehr R and Gruss P. Pax and vertebrate development. Int J Dev Biol 1996; 40: 369-377.
77. Ozaki T, Nakamura Y, Enomoto H, Hirose M and Sakiyama S. Overexpression of DAN gene product in normal rat fibroblasts causes a retardation of the entry into the S phase. Cancer Res 1995; 55: 895-900.
78. Pizzuti A, Amati F, Calabrese G, Mari A, Colosimo A, Silani V, Giardino L, Ratti A, Pesso D, Calza L, Palka G, Scarlato G, Novelli G and Dallapiccola B. cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity genes. Hum Mol Genet 1996; 5: 953-958.
79. Momose S, Kobayashi T, Mitani H, Hirabayashi M, Ito K, Ueda M, Nabeshima Y and Hino O. Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system. Hum Mol Genet 2002 (15); 11: 2997-3006.
80. Tapon N, Ito N, Dickson BJ, Treisman JE and Hariharan IK. The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation. Cell 2001; 105: 345-355.
81. Porter CJ, Huang H and Xu T. Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size. Cell 2001; 105: 357-368.
82. Hengstschlager M, Rodman DM, Miloloza A, Hengstschlager-Ottnad E, Rosner M and Kubista M. Tuberous sclerosis gene products in proliferation control. Mutat Res 2001; 488: 233-239.
83. Li Y, Corradetti MN, Inoki K and Guan KL. TSC2: filling the GAP in the mTOR signaling pathway. Trends Biochem Sci 2004; 29: 32-38.
84. Sassin JF and Chutorian AM. Intracranial chordoma in children. Arch Neurol 1967; 17: 89-92.
85. Maiorano E, Renzulli G, Favia G and Ricco R. Expression of intermediate filaments in chordomas. An immunocytochemical study of five cases. Pathol Res Pract 1992; 188: 901-907.
86. Naka T, Iwamoto Y, Shinohara N, Chuman H, Fukui M and Tsuneyoshi M. Cytokeratin subtyping in chordomas and the fetal notochord: an immunohistochemical analysis of aberrant expression. Mod Pathol 1997; 10: 545-551.
87. Gotz W, Kasper M, Miosge N and Hughes RC. Detection and distribution of the carbohydrate binding protein galectin-3 in human notochord, intervertebral cisc and chordoma. Differentiation 1997; 62: 149-157.
88. Juliao SF, Rand N and Schwartz HS. Galectin-3: a biologic marker and diagnostic aid for chordoma. Clin Orthop 2002; 397: 70-75.
89. Naka T, Oda Y, Shinohara N, Chuman H, Fukui M and Tsuneyoshi M. Immunohistochemical analysis of E-cadherin, alpha-catenin, beta-catenin, gamma-catenin, and neural cell adhesion molecule (NCAM) in chordoma. J Clin Pathol 2001; 54: 945-950.
90. Horiguchi H, Sano T, Quian ZR, Horokawa M, Kagawa N, Yamaguchi T, Hirose T and Nagahiro S. Expression of cell adhesion molecules in chordomas: an immunohistochemical study of 16 cases. Acta Neuropathol 2004; 107: 91-96.
91. Camacho-Arroyo I, Gonzalez-Aguero G, Gamboa-Dominguez A, Cerbon MA and Ondarza R. Progesterone receptor isoforms expression pattern in human chordomas. J Neurooncol 2000; 49: 1-7.
92. Deniz ML, Kilic T, Almaata I, Kurtkaya O, Sav A and Pamir MN. Expression of growth factors and structural proteins in chordomas: basic fibroblast growth factor, transforming growth factor alpha, and fibronectin are correlated with recurrence. Neurosurgery 2002; 51: 753-760.
93. Druker BJ. STI571 (Gleevec TM) as a paradigm for cancer therapy. Trends Mol Med 2002; 8 (Suppl): S14-18.
94. Pietras K, Sjöblom T, Rubin K, Heldin CH and Östman A. PDGF receptors as cancer drug targets. Cancer Cell 2003; 3: 439-443.
95. Casali PG, Messina M, Stacchiotti S, Tamborini E, Crippa F, Gronchi A, Orlandi R, Ripamonti C, Spreafico C, Bertieri R, Bertulli R, Colecchia M, Fumagalli E, Greco A, Grosso F, Olmi P, Pierotti MA and Pilotti S. Imatinib mesylate in chordoma. Cancer 2004; 101: 2086-2097.