Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis

PLoS ONE

Volumn 7, Issue 4, 2012, Pages

  Plotkin, Scott R ^a   Bredella, Miriam A ^a   Cai, Wenli ^a   Kassarjian, Ara ^b   Harris, Gordon J ^a   Esparza, Sonia ^a   Merker, Vanessa L ^a   Munn, Lance L ^a   Muzikansky, Alona ^a   Askenazi, Manor ^c,d   Nguyen, Rosa ^e   Wenzel, Ralph ^e   Mautner, Victor F ^e  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Department of Radiology Corades SL ^*  (Spain)

^c DANA FARBER CANCER INSTITUTE   (United States)

^d HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MOLECULAR MARKER;

ADULT; AGE; ARTICLE; CAFE AU LAIT SPOT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENDER; HUMAN; MAJOR CLINICAL STUDY; MALE; NEURILEMOMA; NEUROFIBROMA; NEUROFIBROMATOSIS; PHENOTYPE; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; RISK ASSESSMENT; RISK FACTOR; SKELETON MALFORMATION; THREE DIMENSIONAL IMAGING; TUMOR LOCALIZATION; TUMOR VOLUME; VOLUMETRY; WHOLE BODY IMAGING; WHOLE BODY MRI; CLINICAL TRIAL; COHORT ANALYSIS; MIDDLE AGED; MULTICENTER STUDY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; SCHWANNOMATOSIS; SEX DIFFERENCE; SKIN TUMOR;

ADULT; AGE FACTORS; COHORT STUDIES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEURILEMMOMA; NEUROFIBROMATOSES; NEUROFIBROMATOSIS 1; NEUROFIBROMATOSIS 2; PHENOTYPE; RISK FACTORS; SEX FACTORS; SKIN NEOPLASMS; TUMOR BURDEN; WHOLE BODY IMAGING;

EID: 84860459532     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0035711     Document Type: Article

References (41)

1. Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, et al. (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62: 193-201.
2. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, et al. (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 75: 826.
3. Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, et al. (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363: 515-521.
4. Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, et al. (2007) Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 80: 805-810.
5. MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, et al. (2005) Diagnostic criteria for schwannomatosis. Neurology 64: 1838-1845.
6. NIH Consensus Conference, (1988) Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 45: 575-578.
7. Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, et al. (2011) Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis 6 18. 1750-1172-6-18 [pii];10.1186/1750-1172-6-18 [doi].
8. Evans DG, O'Hara C, Wilding A, Ingham SL, Howard E, et al. (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. ejhg2011113 [pii];10.1038/ejhg.2011.113 [doi].
9. Rasmussen SA, Yang Q, Friedman JM, (2001) Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet 68: 1110-1118.
10. Otsuka G, Saito K, Nagatani T, Yoshida J, (2003) Age at symptom onset and long-term survival in patients with neurofibromatosis Type 2. J Neurosurg 99: 480-483.
11. Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, et al. (1990) NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med 113: 39-52.
12. Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, et al. (2002) Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 59: 1759-1765.
13. Cai W, Kassarjian A, Bredella MA, Harris GJ, Yoshida H, et al. (2009) Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology 250: 665-673.
14. Sbidian E, Wolkenstein P, Valeyrie-Allanore L, Rodriguez D, Hadj-Rabia S, et al. (2010) NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1. J Invest Dermatol 130: 2173-2178.
15. Mautner VF, Lindenau M, Baser ME, Kluwe L, Gottschalk J, (1997) Skin abnormalities in neurofibromatosis 2. Arch Dermatol 133: 1539-1543.
16. Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, et al. (2004) Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 75: 231-239.
17. Huson SM, Harper PS, Compston DA, (1988) Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 111 (Pt 6): 1355-1381.
18. Deltas G, (2003) The small-sample bias of the Gini coefficient: results and implications for empirical research. Rev Econ Statist 85: 226-234.
19. Clauser CE, McConville JT, Young JW, (1969) Weight, volume, and center of mass of segments of the human body. AMRL-TR-69-70: 1-101.
20. R Development Core Team (2008) R: a language and environment for statistical computing, version Vienna: R Foundation for Statistical Computing.
21. Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, et al. (2008) Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol 10: 593-598.
22. Waggoner DJ, Towbin J, Gottesman G, Gutmann DH, (2000) Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet 92: 132-135.
23. Friedman JM, Birch PH, (1997) Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 70: 138-143.
24. North K, (1993) Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J Child Neurol 8: 395-402.
25. Tonsgard JH, Kwak SM, Short MP, Dachman AH, (1998) CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions. Neurology 50: 1755-1760.
26. Ruggieri M, Huson SM, (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56: 1433-1443.
27. Aghi M, Kluwe L, Webster MT, Jacoby LB, Barker FG, et al. (2006) Unilateral vestibular schwannoma with other neurofibromatosis Type 2-related tumors: clinical and molecular study of a unique phenotype. J Neurosurg 104: 201-207.
28. Yang FC, Ingram DA, Chen S, Zhu Y, Yuan J, et al. (2008) Nf1-dependent tumors require a microenvironment containing Nf1+/- and c-kit-dependent bone marrow. Cell 135: 437-448.
29. Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, et al. (1994) Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet 7: 353-361.
30. Giovannini M, Robanus-Maandag E, van d, V, Niwa-Kawakita M, Abramowski V, et al. (2000) Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. Genes Dev 14: 1617-1630.
31. Vogel KS, Klesse LJ, Velasco-Miguel S, Meyers K, Rushing EJ, et al. (1999) Mouse tumor model for neurofibromatosis type 1. Science 286: 2176-2179.
32. Cichowski K, Santiago S, Jardim M, Johnson BW, Jacks T, (2003) Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor suppressor. Genes Dev 17 449-454. 10.1101/gad.1054703 [doi].
33. Curto M, McClatchey AI, (2008) Nf2/Merlin: a coordinator of receptor signalling and intercellular contact. Br J Cancer 98 256-262. 6604002 [pii];10.1038/sj.bjc.6604002 [doi].
34. Li W, You L, Cooper J, Schiavon G, Pepe-Caprio A, et al. (2010) Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. Cell 140 477-490. S0092-8674(10)00064-4 [pii];10.1016/j.cell.2010.01.029 [doi].
35. Biegel JA, Kalpana G, Knudsen ES, Packer RJ, Roberts CW, et al. (2002) The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res 62: 323-328.
36. Wu BL, Austin MA, Schneider GH, Boles RG, Korf BR, (1995) Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. Am J Med Genet 59 528-535. 10.1002/ajmg.1320590427 [doi].
37. Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, et al. (2007) An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet 80: 140-151.
38. Tucker T, Wolkenstein P, Revuz J, Zeller J, Friedman JM, (2005) Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology 65: 205-211.
39. Dugoff L, Sujansky E, (1996) Neurofibromatosis type 1 and pregnancy. Am J Med Genet 66: 7-10.
40. Lammert M, Mautner VF, Kluwe L, (2005) Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients. BMC Cancer 5: 16.
41. McLaughlin ME, Jacks T, (2003) Progesterone receptor expression in neurofibromas. Cancer Res 63: 752-755.