Vol 71, No 6 (2021)
Review paper
Published online: 2021-12-06

open access

Page views 5905
Article views/downloads 350
Get Citation

Connect on Social Media

Connect on Social Media

Phacomatoses, genetic testing for personalisation of clinical management (part 1.)

Anna Kofla-Dlubacz1, Andrzej Stawarski1, Tomasz Pytrus1, Justyna Gil2
Nowotwory. Journal of Oncology 2021;71(6):420-426.

Abstract

Genetically determined disorders of tissue development, which are derived from the ecto-, endo- and mesoderm and develop in the early stages of foetal life, referred to as phacomatoses, constitute a large group of diseases predisposing to development of neoplasms. Early diagnosis, including identification of mutations and clinical evaluation, enables introduc­tion of multidisciplinary care for patients with a confirmed diagnosis. Thus, the long-term prognosis and quality of patients’ life can be improved. The most common phacomatoses include neurofibromatosis types 1 and 2 and schwannomatosis.

Article available in PDF format

View PDF Download PDF file

References

  1. Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016; 5(2): 98–104.
  2. Antônio JR, Goloni-Bertollo EM, Trídico LA. Neurofibromatosis: chronological history and current issues . An Bras Dermatol. 2013; 88(3): 329–343.
  3. Neurofibromatosis. Archives of Neurology. 1988; 45(5): 575.
  4. DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000; 105(3 Pt 1): 608–614.
  5. Korfhage J, Lombard DB. Malignant eriheral nerve sheath tumors: From eigenome to bedside. Mol Cancer Res. 2019; 17(7): 1417–1428.
  6. Seminog OO, Goldacre MJ. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. Br J Cancer. 2013; 108(1): 193–198.
  7. Park GH, Lee SJ, Yim H, et al. TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions. Oncol Rep. 2014; 32(4): 1347–1354.
  8. Katz D, Lazar A, Lev D. Malignant peripheral nerve sheath tumour (MPNST): the clinical implications of cellular signalling pathways. Expert Rev Mol Med. 2009; 11: e30.
  9. Evans DGR, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002; 39(5): 311–314.
  10. Watson KL, Al Sannaa GA, Kivlin CM, et al. Patterns of recurrence and survival in sporadic, neurofibromatosis Type 1-associated, and radiation-associated malignant peripheral nerve sheath tumors. J Neurosurg. 2017; 126(1): 319–329.
  11. Higham CS, Steinberg SM, Dombi E, et al. SARC006: Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated Chemotherapy-Naive Malignant Peripheral Nerve Sheath Tumors. Sarcoma. 2017; 2017: 8685638.
  12. Patwardhan PP, Surriga O, Beckman MJ, et al. Sustained inhibition of receptor tyrosine kinases and macrophage depletion by PLX3397 and rapamycin as a potential new approach for the treatment of MPNSTs. Clin Cancer Res. 2014; 20(12): 3146–3158.
  13. D'Adamo DR, Dickson MA, Keohan ML, et al. A Phase II Trial of Sorafenib and Dacarbazine for Leiomyosarcoma, Synovial Sarcoma, and Malignant Peripheral Nerve Sheath Tumors. Oncologist. 2019; 24(6): 857–863.
  14. Hirbe A, Gutmann D. Neurofibromatosis type 1: a multidisciplinary approach to care. The Lancet Neurology. 2014; 13(8): 834–843.
  15. Bergqvist C, Servy A, Valeyrie-Allanore L, et al. NF France Network. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis. 2020; 15(1): 37.
  16. Agaimy A, Vassos N, Croner RS. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations . Int J Clin Exp Pathol. 2012; 5(9): 852–862.
  17. Liu S, Ran Li, Qi D, et al. Neovascular glaucoma in a pediatric patient with neurofibromatosis type 1: a case report. BMC Ophthalmol. 2020; 20(1): 168.
  18. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007; 44(2): 81–88.
  19. Bergoug M, Doudeau M, Godin F, et al. Neurofibromin Structure, Functions and Regulation. Cells. 2020; 9(11).
  20. Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet. 2006; 70(1): 1–13.
  21. Abramowicz A, Gos M. Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease. Dev Period Med. 2014; 18(3): 297–306.
  22. Scheffzek K, Welti S. Neurofibromin: Protein Domains and Functional Characteristics. Neurofibromatosis Type 1. 2012: 305–326.
  23. Pacot L, Burin des Roziers C, Laurendeau I, et al. One Mutation may Conceal Another. Genes (Basel). 2019; 10(9).
  24. Mautner VF, Kluwe L, Friedrich RE, et al. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet. 2010; 47(9): 623–630.
  25. Upadhyaya M, Huson SM, Davies M, et al. 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. 2007; 80(1): 140–151.
  26. Rojnueangnit K, Games A, Sharp A, et al. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation . Hum Mutat. 2015; 36(11): 1052–1063.
  27. Freret ME, Anastasaki C, Gutmann DH. Independent mutations underlie café-au-lait macule development in a woman with segmental NF1. Neurol Genet. 2018; 4(4): e261.
  28. Friedman J. Neurofibromatosis 1 Synonyms: NF1, Von Recklinghausen Disease, Von Recklinghausen's Neurofibromatosis. In: Adam MP, Ardinger HH, Pagon RA, et al. ed. GeneReviews®. University of Washington, Seattle 1993–2021.
  29. Morbidoni V, Baschiera E, Forzan M, et al. Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of Variants. Cancers (Basel). 2021; 13(5).
  30. Radtke HB, Sebold CD, Allison C, et al. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2007; 16(4): 387–407.
  31. Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009; 4: 16.
  32. Dewan R, Pemov A, Kim HJ, et al. Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas. Neuro Oncol. 2015; 17(4): 566–573.
  33. Plotkin SR, Duda DG, Muzikansky A, et al. Multicenter, Prospective, Phase II and Biomarker Study of High-Dose Bevacizumab as Induction Therapy in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannoma. J Clin Oncol. 2019; 37(35): 3446–3454.
  34. Chang LS, Akhmametyeva EM, Wu Y, et al. Multiple transcription initiation sites, alternative splicing, and differential polyadenylation contribute to the complexity of human neurofibromatosis 2 transcripts. Genomics. 2002; 79(1): 63–76.
  35. Mindos T, Dun XP, North K, et al. Merlin controls the repair capacity of Schwann cells after injury by regulating Hippo/YAP activity. J Cell Biol. 2017; 216(2): 495–510.
  36. Evans DG, Ramsden RT, Shenton A, et al. Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet. 2007; 44(7): 424–428.
  37. Evans DG, Sainio M, Baser ME. Neurofibromatosis type 2. J Med Genet. 2000; 37(12): 897–904.
  38. Evans DGR, Baser ME, O'Reilly B, et al. Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg. 2005; 19(1): 5–12.
  39. Selvanathan SK, Shenton A, Ferner R, et al. Further genotype--phenotype correlations in neurofibromatosis 2. Clin Genet. 2010; 77(2): 163–170.
  40. Evans DG. Neurofibromatosis 2. In: Adam MP, Ardinger HH, Pagon RA, et al. ed. GeneReviews®. University of Washington, Seattle 1993–2021.
  41. Denayer E, Legius E. Legius Syndrome and its Relationship with Neurofibromatosis Type 1. Acta Dermato Venereologica. 2020; 100(7): adv00093–167.
  42. Brems H, Chmara M, Sahbatou M, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007; 39(9): 1120–1126.



Nowotwory. Journal of Oncology