Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation

American Journal of Pathology

Volumn 155, Issue 6, 1999, Pages 1879-1884

  Nielsen, Gunnlaugur P ^a   Stemmer Rachamimov, Anat O ^a   Ino, Yasushi ^a   Moøller, Michael B ^b   Rosenberg, Andrew E ^a   Louis, David N ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BENIGN TUMOR; GENE DELETION; GENE EXPRESSION; GENE INACTIVATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALIGNANT NEOPLASTIC DISEASE; MALIGNANT TRANSFORMATION; NERVE SHEATH TUMOR; NEUROFIBROMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

EID: 0032762784     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65507-1     Document Type: Article

References (49)

1. Karnes PS: Neurofibromatosis: a common neurocutaneous disorder. Mayo Clin Proc 1998, 73:1071-1076
2. Zöller MET, Rembeck B, Odén A, Samuelsson M, Angervall L: Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 1997, 79:2125-2131
3. National Institutes of Health Consensus Development Conference Neurofibromatosis Conference Statement. Arch Neurol 1988, 45:575-578
4. Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM, Ilstrup DM: Malignant peripheral nerve sheath tumors. A clinicopathlogic study of 120 cases. Cancer 1986, 57:2006-2021
5. von Deimling A, Krone W, Menon AG: Neurofibromatosis type 1: pathology, clinical features and molecular genetics. Brain Pathol 1995, 5:153-162
6. Colman SD, Williams CA, Wallace MR: Benign neurofibroma in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nature Genet 1995, 11:90-92
7. Jhanwar SC, Chen Q, Li FP, Brennan MF, Woodruff JM: Cytogenetic analysis of soft tissue sarcomas. Cancer Genet Cytogenet 1994, 78:138-144
8. Mertens F, Rydholm A, Bauer HFC, Limon J, Nedoszytko B, Szadowska A, Willén H, Heim S, Mitelman F, Mandahl N: Cytogenetic findings in malignant peripheral nerve sheath tumors. Int J Cancer 1995, 61:793-798
9. Fletcher JA, Kozakewich HP, Hoffer FA, Lage JM, Weidner N, Tepper R, Pinkus GS, Morton CC, Corson JM: Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med 1991, 324:436-443
10. Menon AG, Anderson KM, Riccardi VM, Chung RY, Whaley JM, Yandell DW, Farmer GE, Freiman RN, Lee JK, Li FP, Barker DF, Ledbetter DH, Kleider A, Martuza RL, Gusella JF, Seizinger BR: Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc Natl Acad Sci USA 1990, 87:5435-5439
11. Halling KC, Scheithauer BW, Halling AC, Nascimento AG, Ziesmer SC, Roche PC, Wollan PC: p53 expression in neurofibroma and malignant peripheral nerve sheath tumor: an immunohistochemical study of sporadic and NF1-associated tumors. Am J Clin Pathol 1996, 106:282-288
12. Skuse GR, Kosciolek BA, Rowley RT: Molecular genetic analysis of tumors in von Reckiinghausen neurofibromatosis. Loss of heterozygosity for chromosome 17. Genes Chromosom Cancer 1989, 1:36-41
13. Rey JA, Bello MJ, Kusak ME, de Campos JM, Pestaña A: Involvement of 22q12 in a neurofibrosarcoma in neurofibromatosis type 1. Cancer Genet Cytogenet 1993, 66:28-32
14. Donner LR: Cytogenetics of tumors of soft tissue and bone. Implication for pathology. Cancer Genet Cytogenet 1994, 78:115-126
15. Lothe RA, Sæter G, Danielsen HE, Stenwig AE, Hayheim B, O'Connell PO, Børresen AL: Gentetic alterations in a malignant schwannoma from a patient with neurofibromatosis (NF1). Pathol Res Pract 1993, 189:465-471
16. McCarron KF, Goldblum JR: Plexiform neurofibroma with and without associated malignant peripheral nerve sheath tumor. A clinicopathologic and immunohistochemical analysis of 54 cases. Mod Pathol 1998, 11:612-617
17. Kindblom LG, Ahldén M, Meis-Kinbblom JM, Stenman G: Immunohistochemical and molecular analysis of p53, MDM2, proliferating cell nuclear antigen and Ki67 in benign and malignant peripheral nerve sheath tumors. Virchows Arch 1995, 427:19-26
18. Serrano M, Hannon GJ, Beach D: A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 1993, 366:704-707
19. Hall M, Peters G: Genetic alterations of cyclins, cyclin-dependent kinases, and Cdk inhibitors in human cancer. Adv Cancer Res 1996, 68:67-108
20. Medema RH, Herrera RE, Lam F, Weinberg RA: Growth suppression by p16ink4 requires functional retinoblastoma protein. Proc Natl Acad Sci USA 1995, 92:6289-6293
21. Mao L, Merlo A, Bedi G, Shapiro GI, Edwards CD, Rollins BJ, Sidransky D: A novel p16INK4A transcript. Cancer Res 1995, 55:2995-2997
22. Lukas J, Aagaard L, Strauss M, Bartek J: Oncogenic aberrations of p16INK4/CDKN2 and cyclin D1 cooperate to deregulate G1 control. Cancer Res 1995, 55:4818-4823
23. Tam SW, Shay JW, Pagano M: Differential express on and cell cycle regulation of cyclin-dependent kinase 4 inhibitor p16Ink4. Cancer Res 1994, 54:5816-5820
24. Wiman KG: The retinoblastoma gene: role in cell cycle control and cell differentiation. FASEB J 1993, 7:841-845
25. Li Y, Nichols MA, Shay JW, Xiong Y: Transcriptional repression of the D-type cyclin-dependent kinase inhibitor p16 by the retinoblastoma susceptibility gene product pRb. Cancer Res 1994, 54:6078-6082
26. Cordon-Cardo C Mutation of cell cycle regulators. Biological and clinical implications for human neoplasia. Am J Pathol 1995, 147:545-560
27. Ono Y, Tamiya T, Ichikawa T, Kunishio K, Matsumoto K, Furuta T, Ohmoto T, Ueki K, Louis DN: Malignant astrocytomas with homozygous CDKN2/p16 gene deletions have higher Ki-67 proliferation indices. J Neuropathol Exp Neurol 1996, 55:1026-1031
28. Ueki K, Ono Y, Henson JW, Efird JT, von Deimling A, Louis DN: CDKN2/p16 or RB alterations occur in the majority of glioblastomas and are inversely correlated. Cancer Res 1996, 56:150-153
29. Schutte M, Hruban RH, Geraots J, Maynard R, Hilgers W, Rabindran SK, Moskaluk CA, Hahn SA, Schwarte-Waldhoff I, Schmiegel W, Baylin SB, Kern SE, Herman JG: Abrogation of the Rb/p16 tumor-suppressive pathway in virtually all pancreatic carcinomas. Cancer Res 1997, 57:3125-3130
30. Liew CT, Li HM, Lo KW, Leow CK, Chan JY, Lau WY, Lai PB, Lim BK, Huang J, Leung WT, Wu S, Lee JC: High frequency of p16INK4A gene alterations in hepatocellular carcinoma. Oncogene 1999, 18: 789-795
31. Burns KL, Ueki K, Jhung SL, Koh J, Louis DN: Molecular genetic correlates of p16 cdk4 and pRb immunonistochemistry in glioblastomas. J Neuropathol Exp Neurol 1998, 57:122-130
32. Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, Clark WH, Tucker MA, Dracopoli NC: Germline p16 mutations in familial melanoma. Nature Genet 1994, 8:15-21
33. Mori T, Miura K, Aoki T, Nishihira T, Mori S, Nakamura Y: Frequent somatic mutation of the MTS1/CDK4I (multiple tumor suppressor/ cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma. Cancer Res 1994, 54:3396-3397
34. Caldas C, Hahn SA, da Costa LT, Redston MS, Schutte M, Seymour AB, Weinstein CL, Hruban RH, Yeo CJ, Kern SE: Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma. Nature Genet 1994, 8:27-32
35. Hebert J, Cayuela JM, Berkeley J, Sigaux F: Candidate tumor-suppressor genes MTS1 (p16INK4A) and MTS2 (p15INK4B) display frequent homozygous deletions in primary cells from T-but not from B-cell lineage acute lymphoblastic leukemias. Blood 1994, 84:4038-4044
36. Takeuchi S, Bartram CR, Seriu T, Miller CW, Tobler A, Janssen JW, Reiter A, Ludwig WD, Zimmermann M, Schwaller J, Lee E, Miyoshi I, Koeffler HP: Analysis of a family of cyclin-dependent kinase inhibitors: p15/MTS2/INK4B, p16/MTS1/INK4A, and p18 genes in acute lymphoplastic leukemia of childhood. Blood 1995, 86:755-760
37. Cayuela JM, Hebert J, Sigaux F: Homozygous MTS1 (p16INK4A) deletion in primary tumor cells of 163 leukemic patients. Blood 1995, 85:854
38. Goldstein AM, Fraser MC, Struewing JP, Hussussian CJ, Ranade K, Zametkin KP, Fontaine LS, Organic SM, Dracopoli NC, Clark WH, Tucker MA: Increased risk of pancreatic cancer in melanoma-prone kindreds with p16/INK4 mutations. N Engl J Med 1995, 333:970-974
39. Nielsen GP, Burns KL, Rosenberg AE, Louis DN: CDKN2A gene deletion and loss of p16 expression occur in osteosarcomas that lack RB alterations. Am J Pathol 1998, 153:159-163
40. Cohen JA, Geradts J: Loss of RB and MTS1/CDKN2(p16) expression in human sarcomas. Hum Pathol 1997, 28:893-898
41. Serrano M, Lee H, Chin L, Cordon-Cardo C, Beach D, DePinho RA: Role of the INK4A locus in tumor suppression and cell mortality. Cell 1996, 85:27-37
42. Louis DN, von Deimling A, Seizinger BR: A(CA)n dinucleotide repeat assay for detection of allelic chromosomal loss in small or archival brain tumor specimens. Am J Pathol 1992, 141:777-782
43. INK4A expression in normal human adult and infant tissue. Lab Invest 1999, 79:1137-1143
44. Ueki K, Rubio MP, Ramesh V, Correa KM, Rutter JL, von Deimling A, Buckler AJ, Gusella JF, Louis DN: MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p. Hum Mol Genet 1994, 3:1841-1845
45. Rubio MP, von Deimling A, Yandell DW, Wiestler OD, Gusella JF, Louis DN: Accumulation of wild-type p53 protein in human astrocytomas. Cancer Res 1993, 53:3465-3467
46. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB: Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996, 93:9821-9826
47. Lothe RA, Karhu R, Mandahl N, Mertens F, Sæter G, Heim S, Börresen-Dale AL, Kallioniemi OP: Gain of 17q24-qter detected by comparative genomic hybridization in malignant tumors from patients with von Recklinghausen's neurofibromatosis. Cancer Res 1996, 56: 4778-4781
48. Schneider-Stock R, Radig K, Roessner A: Loss of heterozygosity on chromosome 9q21 (p16 gene) uncommon in soft-tissue sarcomas. Mol Carcinog 1997, 18:63-65
49. Kourea HP, Orlow I, Woodruff JM, Cordon-Cardo C: Alterations of the INK4A gene in malignant peripheral nerve sheath tumors (MPNSTs). Mod Pathol 1999, 12:12A