Selected NF1 Literature

I started on the path to Recklinology on 15 February 1972, poring through multiple volumes of the Index Medicus in preparation for giving Pediatric Grand Rounds at the Massachusetts General Hospital, where I was doing a Genetics Fellowship. The available articles on “Neurofibromatosis” were few and mainly involved case reports. There were no or few cell biology investigations.

The literature on NF1 that has accumulated since 1972 is massive, almost overwhelming. The articles cited below highlight the authors and the diversity representative of the Recklinology literature as it matured to genomic, cell biology and neuroimaging foci that dominate now. As well as being generally informative, these articles manifest the international fraternity of Recklinologists that is the basis for a realistic hope that NF1 will soon be less of a burden for those with the disorder.

I also expect that in a few years a key focus will be on how NF1 has universal significance. That is, the next high-intensity list of NF1 articles will emphasize how insights into NF1 pathogenesis are directly and indirectly relevant to the health and well-being of millions of persons without NF1. I predict this will be especially true for metabolic disorders, such as obesity and Type 2 Diabetes Mellitus. I am certain of it. [1-59]


Reference List

1 Borberg A: Clinical and genetic investigations into tuberous sclerosis and Recklinghausen’s neurofibromatosis. Acta Psychiatr Neurol Scand 1951;71:1-239.

2 Crowe FW, Schull WJ, Neel JV: A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis. ed 1, Springfield, IL, Charles C. Thomas, 1956.

3 Riccardi VM, Mulvihill JJ (editors): Advances in Neurology (Volume 29): Neurofibromatosis (von Recklinghausen disease). Genetics, Cell Biology and Biochemistry. New York, Raven Press, 1981.

4 Riccardi VM: Neurofibromatosis: Phenotype, Natural History and Pathogenesis. ed 2, Baltimore, Johns Hopkins University Press, 1992.

5 Riccardi VM, Lewis RA: Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet 1988;42:284-289.

6 Riccardi VM: Neurofibromatosis: Clinical heterogeneity. Curr Probl Cancer 1982;7(2):1-34.

7 Lewis RA, Riccardi VM: Von Recklinghausen neurofibromatosis: I. Prevalence of iris hamartomata. Ophthalmology 1981;88:348-354.

8 Wolkenstein P, Durand-Zaleski I, Moreno JC, Zeller J, Hemery F, Revuz J: Cost evaluation of the medical management of neurofibromatosis 1: a prospective study on 201 patients. Br J Dermatol 2000;142:1166-1170.

9 Wolkenstein P, Zeller J, Revuz J, Ecosse E, Leplege A: Quality-of-life impairment in neurofibromatosis type 1: a cross- sectional study of 128 cases. Arch Dermatol 2001;137:1421-1425.

10 Peltonen J, Jaakkola S, Chu M-L, Uitto J: Selective expression of extracellular matrix genes encoding type VI collagen and laminin by Schwann cells, perineurial cells, and fibroblasts from normal nerve and neurofibromas. Ann NY Acad Sci 1990;580:501-504.

11 Visnapuu V, Pienihakkinen K, Peltonen S, Happonen RP, Peltonen J: Neurofibromatosis 1 and dental caries. Clin Oral Investig 2009.

12 Legius E, Marchuk DA, Collins FS, Glover TW: Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppressor gene hypothesis. Nature Genet 1993;3:122-126.

13 Plasschaert E, Descheemaeker MJ, Van EL, Noens I, Steyaert J, Legius E: Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet 2014;168B:72-80.

14 Huson SM, Harper PS, Compston DAS: Von Recklinghausen neurofibromatosis: A clinical and population study in South East Wales. Brain 1988;111:1355-1381.

15 Evans DGR, O’Hara C, Wilding A, Howard E, Moran A, Scott-Kitching V, Holt F, Huson SM: Mortality in neurofibromatosis 1. In North West England: an assessment of actuarial survival in a region of the UK since 1989. Eur J Med Genet 2011;19:1187-91.

16 Ferner RE, Chaudhuri R, Bingham J, Cox T, Hughes RAC: MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry 1993;56:492-495.

17 Warbey VS, Ferner RE, Dunn JT, Calonje E, O’Doherty MJ: [18F]FDG PET/CT in the diagnosis of malignant peripheral nerve sheath tumours in neurofibromatosis type-1. Eur J Nucl Med Mol Imaging 2009;36:751-757.

18 Leschziner GD, Golding JF, Ferner RE: Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults. Am J Med Genet A 2013;161A:1319-1322.

19 Gutmann DH, Geist RT, Rose K, Wright DE: Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. Dev Dyn 1995;202:302-311.

20 Johnson KJ, Fisher MJ, Listernick RL, North KN, Schorry EK, Viskochil D, Weinstein M, Rubin JB, Gutmann DH: Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Fam Cancer 2012.

21 Zhu Y, Ghosh P, Charnay P, Burns DK, Parada LF: Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 2002;296:920-922.

22 Zhu Y, Romero MI, Ghosh P, Ye Z, Charnay P, Rushing EJ, Marth JD, Parada LF: Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain. Genes Dev 2001;15:859-876.

23 Ribeiro S, Napoli I, White IJ, Parrinello S, Flanagan AM, Suter U, Parada LF, Lloyd AC: Injury Signals Cooperate with Nf1 Loss to Relieve the Tumor-Suppressive Environment of Adult Peripheral Nerve. Cell Rep 2013;5:1-11.

24 Acosta MT, Bearden CE, Castellanos XF, Cutting L, Elgersma Y, Gioia G, Gutmann DH, Lee YS, Legius E, Muenke M, North K, Parada LF, Ratner N, Hunter-Schaedle K, Silva AJ: The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research. Am J Med Genet A 2012;158A:2225-2232.

25 Ratner N, Williams JP, Kordich JJ, Kim HA: Schwann cell preparation from single mouse embryos: analyses of neurofibromin function in Schwann cells. Methods Enzymol 2006;407:22-33.

26 Hummel TR, Jessen WJ, Miller SJ, Kluwe L, Mautner VF, Wallace MR, Lazaro C, Page GP, Worley PF, Aronow BJ, Schorry EK, Ratner N: Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin. Clin Cancer Res 2010;16:5048-5057.

27 Larizza L, Gervasini C, Natacci F, Riva P: Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. Curr Mol Med 2009;9:634-653.

28 Niimura M: Aspects of neurofibromatosis from the viewpoint of dermatology. J Dermatol 1992;19:868-872.

29 Stevenson DA, Birch PH, Friedman JM, Viskochil DH, Balestrazzi P, Boni S, Buske A, Korf BR, Niimura M, Pivnick EK, Schorry EK, Short MP, Tenconi R, Tonsgard JH, Carey JC: Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet 1999;84:413-419.

30 North K: Neurofibromatosis type 1: Review of the first 200 patients in an Australian clinic. J Child Neurol 1993;8:395-402.

31 North KN, Riccardi VM, Samango-Sprouse C, Ferner RE, Legius E, Ratner N, Moore BD, III, Denckla MB: Cognitive function and academic performance in Neurofibromatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force. Neurology 1997;48:1121-1127.

32 Oates EC, Payne JM, Foster SL, Clarke NF, North KN: Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge. Am J Med Genet A 2013;161:659-666.

33 Samuelsson B, Axelsson R: Neurofibromatosis. A clinical and genetic study of 96 cases in Gothenburg, Sweden. Acta Derm Venereol 1981;95:67-71.

34 Samuelsson B, Samuelsson S: Neurofibromatosis in Gothenburg, Sweden. I. Background, study design and epidemiology. Neurofibromatosis 1989;2:6-22.

35 Widemann BC, Salzer WL, Arceci RJ, Blaney SM, Fox E, End D, Gillespie A, Whitcomb P, Palumbo JS, Pitney A, Jayaprakash N, Zannikos P, Balis FM: Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromas. J Clin Oncol 2006;24:507-516.

36 Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC: Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J Neurooncol 2014;121:209-215.

37 Parrinello S, Lloyd AC: Neurofibroma development in NF1 – insights into tumour initiation. Trends Cell Biol 2009;19:395-403.

38 Rosser TL, Packer RJ: Neurocognitive dysfunction in children with neurofibromatosis type 1. Curr Neurol Neurosci Rep 2003;3:129-136.

39 Rosser T, Packer RJ: Intracranial neoplasms in children with neurofibromatosis 1. J Child Neurol 2002;17:630-637.

40 Silva AJ, Frankland PW, Marowitz Z, Friedman E, Laszlo GS, Cioffi D, Jacks T, Bourtchuladze R, Lazlo G: A mouse model for the learning and memory deficits associated with neurofibromatosis type 1. Nat Genet 1997;15:281-284.

41 Pattengale PK, Stewart TA, Leder A, Sinn E, Muller W, Tepler I, Schmidt E, Leder P: Animal models of human disease: Pathology and molecular biology of spontaneous neoplasms occurring in transgenic mice carrying and expressing activated cellular oncogenes. Am J Pathol 1989;135:39-61.

42 Wallace MD, Pfefferle AD, Shen L, McNairn AJ, Cerami EG, Fallon BL, Rinaldi VD, Southard TL, Perou CM, Schimenti JC: Comparative Oncogenomics Implicates the Neurofibromin 1 Gene (NF1) as a Breast Cancer Driver. Genetics 2012;192:385-392.

43 Chai G, Liu N, Ma J, Li H, Oblinger JL, Prahalad AK, Gong M, Chang LS, Wallace M, Muir D, Guha A, Phipps RJ, Hock JM, Yu X: MicroRNA-10b regulates tumorigenesis in neurofibromatosis type 1. Cancer Sci 2010;101:1997-2004.

44 Acosta MT, Gioia GA, Silva AJ: Neurofibromatosis Type 1: New Insights into Neurocognitive Issues. Curr Neurol Neurosci Rep 2006;6:136-143.

45 Mulvihill JJ, Sorensen SA, Nielsen A: Four decades of neurofibromatosis (NF) Recklinghausen disease in Denmark: Incidence of cancers. Am J Hum Genet 1983;35:68A.

46 Winther JF, Boice JD, Mulvihill JJ, Stovall M, Frederiksen K, Tawn EJ, Olsen JH: Chromosomal abnormalities among offspring of childhood cancer survivors in Denmark: A population-based study. Am J Hum Genet 2004;74:1282-1285.

47 Madanikia SA, Bergner A, Ye X, Blakeley JO: Increased risk of breast cancer in women with NF1. Am J Med Genet A 2012;158A:3056-3060.

48 Kaas B, Huisman TA, Tekes A, Bergner A, Blakeley JO, Jordan LC: Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1. J Child Neurol 2012;28:561-569.

49 Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM: Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol 2008;10:593-598.

50 Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, Barker FG, Connor S, Evans DG, Fisher MJ, Goutagny S, Harris GJ, Jaramillo D, Karajannis MA, Korf BR, Mautner V, Plotkin SR, Poussaint TY, Robertson K, Shih CS, Widemann BC: Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology 2013;81:S33-S40.

51 Park SJ, Sawitzki B, Kluwe L, Mautner VF, Holtkamp N, Kurtz A: Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors. BMC Med 2013;11:109.

52 Krone W, Zorlein S, Mao P: Cell culture studies on neurofibromatosis (von Recklinghausen). 1. Comparative growth experiments with fibroblasts at high and low concentrations of fetal calf serum. Hum Genet 1981;58:188-193.

53 Kaufmann D, Wiandt S, Veser J, Krone W: Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1). Hum Genet 1991;87:144-150.

54 Ingram DA, Yang F-C, Travers JB, Wenning MJ, Hiatt K, New S, Hood A, Shannon K, Williams DA, Clapp DW: Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. J Exp Med 2000;191:181-188.

55 Robertson KA, Nalepa G, Yang FC, Bowers DC, Ho CY, Hutchins GD, Croop JM, Vik TA, Denne SC, Parada LF, Hingtgen CM, Walsh LE, Yu M, Pradhan KR, Edwards-Brown MK, Cohen MD, Fletcher JW, Travers JB, Staser KW, Lee MW, Sherman MR, Davis CJ, Miller LC, Ingram DA, Clapp DW: Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol 2012;13:1218-1224.

56 Yang FC, Ingram DA, Chen S, Hingtgen CM, Ratner N, Monk KR, Clegg T, White H, Mead L, Wenning MJ, Williams DA, Kapur R, Atkinson SJ, Clapp DW: Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for Nf1+/- mast cells. J Clin Invest 2003;112:1851-1861.

57 Upadhyaya M, Fryer A, MacMillan J, Broadhead W, Huson SM, Harper PS: Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. J Med Genet 1992;29:180-183.

58 Upadhyaya M, Shaw JD, Harper PS: Molecular basis of Neurofibromatosis type 1 (NF1): Mutration analysis and polymorphisms in the NF1 gene. Hum Mutation 1994;4:83-101.

59 Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Rachen R, Barnicoat A, Li H, Wallace P, Stevenson DA, Viskochil D, Baralle D, Haan E, Turnpenny P, Riccardi VM, Lazaro C, Messiaen L: An absence of cutaneous neurofibromas associated with a 3-bp in-frame 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 2007;80:140-151.