open access

Vol 71, No 6 (2021)
Review paper
Published online: 2021-12-06
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Phacomatoses, genetic testing for personalisation of clinical management (part 1.)

Anna Kofla-Dlubacz1, Andrzej Stawarski1, Tomasz Pytrus1, Justyna Gil2
DOI: 10.5603/NJO.2021.0075
·
Nowotwory. Journal of Oncology 2021;71(6):420-426.
Affiliations
  1. 2nd Department of Paediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
  2. Department of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland

open access

Vol 71, No 6 (2021)
Genetics and oncology
Published online: 2021-12-06

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.

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.

Get Citation

Keywords

phacomatoses; neurocutaneous diseases; neurofibromatosis 1; neurofibromatosis 2

About this article
Title

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

Journal

Nowotwory. Journal of Oncology

Issue

Vol 71, No 6 (2021)

Article type

Review paper

Pages

420-426

Published online

2021-12-06

DOI

10.5603/NJO.2021.0075

Bibliographic record

Nowotwory. Journal of Oncology 2021;71(6):420-426.

Keywords

phacomatoses
neurocutaneous diseases
neurofibromatosis 1
neurofibromatosis 2

Authors

Anna Kofla-Dlubacz
Andrzej Stawarski
Tomasz Pytrus
Justyna Gil

References (42)
  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.

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