Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions

Genes Chromosomes and Cancer

Volumn 51, Issue 5, 2012, Pages 447-451

  Kluwe, Lan ^a   Nguyen, Rosa ^a,d   Vogt, Julia ^b   Bengesser, Kathrin ^b   Mussotter, Tanja ^b   Friedrich, Reinhard E ^a   Jett, Kimberly ^c   Kehrer Sawatzki, Hildegard ^b   Mautner, Victor Felix ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROFIBROMIN;

ADULT; ARTICLE; CANCER INCIDENCE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE DELETION; GENOTYPE; HUMAN; INTERMETHOD COMPARISON; MOSAICISM; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; TUMOR VOLUME; WHOLE BODY MRI;

ADOLESCENT; ADULT; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; HUMANS; NEUROFIBROMATOSIS 1; TUMOR BURDEN; YOUNG ADULT;

EID: 84857995192     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.21931     Document Type: Article

References (18)

1. De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. 2003. Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 72: 1288-1292.
2. Descheemaeker MJ, Roelandts K, De Raedt T, Brems H, Fryns JP, Legius E. 2004. Intelligence in individuals with a neurofibromatosis type 1 microdeletion. Am J Med Genet 131A: 325-326.
3. Evans DG, O'Hara C, Wilding A, Ingham SL, Howard E, Dawson J, Moran A, Scott-Kitching V, Holt F, Huson SM. 2011. Mortality in neurofibromatosis 1: In North West England: An assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet 19: 1187-1191.
4. Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF. 2005. Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet 116: 466-475.
5. Kehrer-Sawatzki H, Schmid E, Fünsterer C, Kluwe L, Mautner VF. 2008. Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region. Am J Med Genet A 146A: 691-699.
6. Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner V-F. 2004. Screening of 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 23: 111-116.
7. Le LQ, Liu C, Shipman T, Chen Z, Suter U, Parada LF. 2011. Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development. Cancer Res 71: 4686-4695.
8. Mantripragada KK, Thuresson AC, Piotrowski A, Díaz de Stahl T, Menzel U, Grigelionis G, Ferner RE, Griffiths S, Bolund L, Mautner V, Nordling M, Legius E, Vetrie D, Dahl N, Messiaen L, Upadhyaya M, Bruder CE, Dumanski JP. 2006. Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet 43: 28-38.
9. Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H. 2010. Clinical characterization of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet 47: 623-630.
10. Mensink KA, Ketterling RP, Flynn HC, Knudson RA, Lindor NM, Heese BA, Spinner RJ, Babovic-Vuksanovic D. 2006. Connective tissue dysplasia in five new patients with NF1 microdeletions: Further expansion of phenotype and review of the literature. J Med Genet 43: e8.
11. Nguyen R, Kluwe L, Fuensterer C, Kentsch M, Friedrich RE, Mautner VF. 2011. Plexiform neurofibromas in children with neurofibromatosis type 1: Frequency and associated clinical deficits. J Pediatr 159: 652-655.
12. Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D. 2010. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype Hum Mutat 31: E1506-1518.
13. Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöri H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. 2010. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat 31: 1163-1173.
14. Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H. 2007. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet 81: 1201-1220.
15. Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H. 2008. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. Eur J Hum Genet 16: 572-580.
16. Venturin M, Guarnieri P, Natamli F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P. 2004. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. J Med Genet 41: 35-41.
17. Vidaud D; members of the NF France Network. 2010. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 31: E1506-E1518.
18. Viskochil D. 2002. Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol 17: 562-570.