Neurofibromatosis type 1 and associated malignancies

Current Neurology and Neuroscience Reports

Volumn 9, Issue 3, 2009, Pages 247-253

  Yohay, Kaleb ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOPLATIN; DOXORUBICIN; FLUORODEOXYGLUCOSE F 18; IFOSFAMIDE; NEUROFIBROMIN; RAS PROTEIN; VINCRISTINE;

AGE DISTRIBUTION; ASTROCYTOMA; BRAIN STEM TUMOR; CANCER GENETICS; CANCER GRADING; CANCER SURVIVAL; CONTRAST ENHANCEMENT; GENE FUNCTION; GENE MUTATION; HUMAN; INCIDENCE; JUVENILE MYELOMONOCYTIC LEUKEMIA; MALIGNANT NEURILEMOMA; MELANOMA; NEUROFIBROMATOSIS; NEUROFIBROSARCOMA; NEUROPATHIC PAIN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE GLIOMA; OVERALL SURVIVAL; PHEOCHROMOCYTOMA; POSITRON EMISSION TOMOGRAPHY; PREVALENCE; REVIEW; SURVIVAL TIME;

ANIMALS; BREAST NEOPLASMS; HUMANS; LEUKEMIA; NERVOUS SYSTEM NEOPLASMS; NEUROFIBROMATOSIS 1; PHEOCHROMOCYTOMA;

EID: 64649106318     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-009-0036-3     Document Type: Review

References (64)

1. Rasmussen SA, Friedman JM: NF1 gene and neurofibromatosis 1. Am J Epidemiol 2000, 151:33-40.
2. Riccardi VM, Lewis RA: Penetrance of von Recklinghausen neurofibromatosis: A distinction between predecessors and descendants. Am J Hum Genet 1988, 42:284-289.
3. Littler M, Morton NE: Segregation analysis of peripheral neurofibromatosis (NF1). J Med Genet 1990, 27:307-310.
4. Cnossen MH, van der Est MN, Breuning MH, et al.: Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1? Hum Mutat 1997, 9:458-464.
5. Basu TN, Gutmann DH, Fletcher JA, et al.: Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. Nature 1992, 356:713-715.
6. Balgobind BV, Van Vlierberghe P, van den Ouweland AM, et al.: Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. Blood 2008, 111:4322-4328.
7. Teschendorff AE, Journee M, Absil PA, et al.: Elucidating the altered transcriptional programs in breast cancer using independent component analysis. PLoS Comput Biol 2007, 3:e161.
8. Upadhyaya M, Kluwe L, Spurlock G, et al.: Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat 2008, 29:74-82.
9. Ding L, Getz G, Wheeler DA, et al.: Somatic mutations affect key pathways in lung adenocarcinoma. Nature 2008, 455:1069-1075.
10. Mrozek K: Cytogenetic, molecular genetic, and clinical characteristics of acute myeloid leukemia with a complex karyotype. Semin Oncol 2008, 35:365-377.
11. Sangha N, Wu R, Kuick R, et al.: Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations. Neoplasia 2008, 10:1362-1372, following 1372.
12. Harris GJ, Plotkin SR, Maccollin M, et al.: Three-dimensional volumetrics for tracking vestibular schwannoma growth in neurofibromatosis type II. Neurosurgery 2008, 62:1314-1319; discussion 1319-1320.
13. Cancer Genome Atlas Research Network: Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 2008, 455:1061-1068.
14. Zoller M, Rembeck B, Akesson HO, Angervall L: Life expectancy, mortality and prognostic factors in neuro-fibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 1995, 75:136-140.
15. Zoller ME, Rembeck B, Oden A, et al.: Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 1997, 79:2125-2131.
16. Walker L, Thompson D, Easton D, et al.: A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer 2006, 95:233-238.
17. Rasmussen SA, Yang Q, FriedmAn JM: Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 2001, 68:1110-1118.
18. Huson SM, Harper PS, Compston DA: Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988, 111(Pt 6):1355-1381.
19. McKeever K, Shepherd CW, Crawford H, Morrison PJ: An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age. Ulster Med J 2008, 77:160-163.
20. Rodriguez FJ, Perry A, Gutmann DH, et al.: Gliomas in neurofibromatosis type 1: A clinicopathologic study of 100 patients. J Neuropathol Exp Neurol 2008, 67:240-249.
21. Guillamo JS, Creange A, Kalifa C, et al.: Prognostic factors of CNS tumours in neurofibromatosis 1 (NF1): A retrospective study of 104 patients. Brain 2003, 126(Pt 1):152-160.
22. Gutmann DH, Rasmussen SA, Wolkenstein P, et al.: Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology 2002, 59:759-761.
23. Listernick R, Charrow J, Greenwald M, Mets M: Natural history of optic pathway tumors in children with neuro-fibromatosis type 1: A longitudinal study. J Pediatr 1994, 125:63-66.
24. Listernick R, Darling C, Greenwald M, et al.: Optic pathway tumors in children: The effect of neurofibromatosis type 1 on clinical manifestations and natural history. J Pediatr 1995, 127:718-722.
25. Lewis RA, Gerson LP, Axelson KA, et al.: Von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata. Ophthalmology 1984, 91:929-935.
26. Balcer LJ, Liu GT, Heller G, et al.: Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: Relation to tumor location by magnetic resonance imaging. Am J Ophthalmol 2001, 131:442-445.
27. Listernick R, Ferner RE, Piersall L, et al.: Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology 2004, 63:1944-1946.
28. Thiagalingam S, Flaherty M, Billson F, North K: Neurofibromatosis type 1 and optic pathway gliomas: Follow-up of 54 patients. Ophthalmology 2004, 111:568-577.
29. King A, Listernick R, Charrow J, et al.: Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome. Am J Med Genet A 2003, 122A:95-99.
30. Gottschalk S, Tavakolian R, Buske A, et al.: Spontaneous remission of chiasmatic/hypothalamic masses in neuro-fibromatosis type 1: Report of two cases. Neuroradiology 1999, 41:199-201.
31. Parsa CF, Hoyt CS, Lesser RL, et al.: Spontaneous regression of optic gliomas: Thirteen cases documented by serial neuroimaging. Arch Ophthalmol 2001, 119:516-529.
32. Mahoney DH Jr, Cohen ME, Friedman HS, et al.: Carboplatin is effective therapy for young children with progressive optic pathway tumors: A Pediatric Oncology Group phase II study. Neuro Oncol 2000, 2:213-220.
33. Packer RJ, Ater J, Allen J, et al.: Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg 1997, 86:747-754.
34. Listernick R, Ferner RE, Liu GT, Gutmann DH: Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurol 2007, 61: 189-198.
35. Sharif S, Ferner R, Birch JM, et al.: Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: Substantial risks after radiotherapy. J Clin Oncol 2006, 24:2570-2575.
36. Grill J, Couanet D, Cappelli C, et al.: Radiation-induced cerebral vasculopathy in children with neurofibromatosis and optic pathway glioma. Ann Neurol 1999, 45:393-396.
37. Molloy PT, Bilaniuk LT, Vaughan SN, et al.: Brainstem tumors in patients with neurofibromatosis type 1: A distinct clinical entity. Neurology 1995, 45:1897-1902.
38. Ullrich NJ, Raja AI, Irons MB, et al.: Brainstem lesions in neurofibromatosis type 1. Neurosurgery 2007, 61:762-766; discussion 766-767.
39. Bilaniuk LT, Molloy PT, Zimmerman RA, et al.: Neuro-fibromatosis type 1: brain stem tumours. Neuroradiology 1997, 39:642-653.
40. Pollack IF, Shultz B, Mulvihill JJ: The management of brainstem gliomas in patients with neurofibromatosis 1. Neurology 1996, 46:1652-1660.
41. Ducatman BS, Scheithauer BW, Piepgras DG, et al.: Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer 1986, 57:2006-2021.
42. Evans DG, Baser ME, McGaughran J, et al.: Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002, 39:311-314.
43. McCaughan JA, Holloway SM, Davidson R, Lam WW: Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1. J Med Genet 2007, 44:463-466.
44. De Raedt T, Brems H, Wolkenstein P, et al.: Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003, 72:1288-1292.
45. King AA, Debaun MR, Riccardi VM, Gutmann DH: Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet 2000, 93:388-392.
46. Tucker T, Wolkenstein P, Revuz J, et al.: Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology 2005, 65:205-211.
47. Mautner VF, Friedrich RE, von Deimling A, et al.: Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. Neuroradiology 2003, 45:618-625.
48. Bhargava R, Parham DM, Lasater OE, et al.: MR imaging differentiation of benign and malignant peripheral nerve sheath tumors: Use of the target sign. Pediatr Radiol 1997, 27:124-129.
49. Bredella MA, Torriani M, Hornicek F, et al.: Value of PET in the assessment of patients with neurofibromatosis type 1. AJR Am J Roentgenol 2007, 189:928-935.
50. Ferner RE, Lucas JD, O'Doherty MJ, et al.: Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry 2000, 68:353-357.
51. Ferner RE, Gutmann DH: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res 2002, 62:1573-1577.
52. Grobmyer SR, Reith JD, Shahlaee A, et al.: Malignant peripheral nerve sheath tumor: Molecular pathogenesis and current management considerations. J Surg Oncol 2008, 97:340-349.
53. Evans DG, Birch JM, Ramsden RT, et al.: Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet 2006, 43:289-294.
54. Creange A, Zeller J, Rostaing-Rigattieri S, et al.: Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999, 122(Pt 3):473-481.
55. Hagel C, Zils U, Peiper M, et al.: Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors. J Neurooncol 2007, 82:187-192.
56. Cashen DV, Parisien RC, Raskin K, et al.: Survival data for patients with malignant schwannoma. Clin Orthop Relat Res 2004, (426):69-73.
57. Anghileri M, Miceli R, Fiore M, et al.: Malignant peripheral nerve sheath tumors: Prognostic factors and survival in a series of patients treated at a single institution. Cancer 2006, 107:1065-1074.
58. Side L, Taylor B, Cayouette M, et al.: Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 1997, 336:1713-1720.
59. Stiller CA, Chessells JM, Fitchett M: Neurofibromatosis and childhood leukaemia/lymphoma: A population-based UKCCSG study. Br J Cancer 1994, 70:969-972.
60. Zvulunov A, Barak Y, Metzker A: Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis. Arch Dermatol 1995, 131:904-908.
61. Walther MM, Herring J, Enquist E, et al.: Von Recklinghausen's disease and pheochromocytomas. J Urol 1999, 162:1582-1586.
62. Sharif S, Moran A, Huson SM, et al.: Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 2007, 44:481-484.
63. Guillot B, Dalac S, Delaunay M, et al.: Cutaneous malignant melanoma and neurofibromatosis type 1. Melanoma Res 2004, 14:159-163.
64. Hottinger AF, Khakoo Y: Update on the management of familial central nervous system tumor syndromes. Curr Neurol Neurosci Rep 2007, 7:200-207.