Multimedialna platforma wiedzy medycznej Internetowa Księgarnia Medyczna Kalendarium Konferencji
Nowotwory. Journal of Oncology
MENU
Shortcuts Submit an article Author Guidelines Ahead Of Print Editorial Office Manuscript Submission Reviewers 2023 Best Original Paper Award

open access

Vol 72, No 2 (2022)
Guidelines / Expert consensus
Published online: 2022-04-08
View PDF Download PDF file View HTML
Get Citation

Recommendations of the Polish Sarcoma Group on diagnostic-therapeutic procedures and control in patients with type 1 neurofibromatosis (NF1) and the associated malignant neoplasm of peripheral nerve sheaths

Piotr Rutkowski1, Anna Raciborska2, Anna Szumera-Ciećkiewicz34, Paweł Sobczuk1, Mateusz Spałek1, Hanna Koseła-Paterczyk1, Iwona Ługowska15, Katarzyna Bilska2, Monika Gos6, Janusz Ryś7, Ewa Chmielik8, Andrzej Tysarowski9, Konrad Zaborowski1, Małgorzata Oczko-Wojciechowska10, Patrycja Castaneda-Wysocka11, Donata Makuła11, Marcin Zdzienicki1, Marcin Ziętek12, Piotr Fonrobert13, Kamil Dolecki14, Marek Dedecjus15, Anna M. Czarnecka1
DOI: 10.5603/NJO.2022.0018
·
Nowotwory. Journal of Oncology 2022;72(2):106-128.
Affiliations
  1. Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute, Warsaw, Poland
  2. Oncology and Oncological Surgery Clinic for Children and Youths, Institute of Mother and Child, Warsaw, Poland
  3. Department of Pathology and Laboratory Medicine, Maria Sklodowska-Curie National Research Institute, Warsaw, Poland
  4. Department of Hematological Diagnosis, Institute of Hematology and Transfusiology, Warsaw, Poland
  5. Center for Early Phase Studies, Maria Sklodowska-Curie National Research Institute, Warsaw, Poland
  6. Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
  7. Department of Neoplasm Pathology, Maria Sklodowska-Curie National Research Institute, Warsaw, Poland
  8. Department of Neoplasm Pathology, Maria Sklodowska-Curie National Research Institute, Gliwice Branch, Gliwice, Poland
  9. Laboratory of Genetic and Molecular Neoplasm Diagnosis, Maria Sklodowska-Curie National Research Institute, Warsaw, Poland
  10. Laboratory of Molecular Diagnosis and Functional Genomics, Maria Sklodowska-Curie National Research Institute, Gliwice Branch, Gliwice, Poland
  11. Radiology Department, Maria Sklodowska-Curie National Research Institute, Warsaw, Poland
  12. Lower Silesian Oncology Center and Medical University in Wroclaw, Wroclaw, Poland
  13. Association for Helping Patients with GIST
  14. SARCOMA Association for Helping Patients with Sarcomas and Melanomas
  15. Clinic of Oncological Endocrinology and Nuclear Medicine, Maria Sklodowska-Curie National Research Institute, Warsaw, Poland

open access

Vol 72, No 2 (2022)
Guidelines and recommendations
Published online: 2022-04-08

Abstract

Type 1 neurofibromatosis (NF1 syndrome in von Recklinghausen’s disease) is inherited as an autosomal dominant disease, caused by mutations in the NF1 gene encoding the neurofibromin protein. NF1 patients are at an increased risk of the develop­ment of a malignant neoplasm and their life span is shorter by 20 years than that of the general population. National Institute of Health (NIH) criteria make a diagnosis possible from about 4 years of age. Examination of children and adults should encom­pass a physical and a subjective component, but also next-generation sequencing (NGS) genetic analysis, histopathological examination of skin lesions, neurological, ophthalmological and radiological examination. If a malignant peripheral nerve sheath tumor (MNPST) is diagnosed in a patient with NF1, the therapeutic procedure should not differ from the general principles of treating soft tissue sarcomas. Patients from the high risk group should be monitored at least once a year, the remaining patients once every 2–3 years by a specialized medical team, and every year by their primary physicians, internal medicine specialists and dermatologists. Patients should have access to genetic counselling.

Abstract

Type 1 neurofibromatosis (NF1 syndrome in von Recklinghausen’s disease) is inherited as an autosomal dominant disease, caused by mutations in the NF1 gene encoding the neurofibromin protein. NF1 patients are at an increased risk of the develop­ment of a malignant neoplasm and their life span is shorter by 20 years than that of the general population. National Institute of Health (NIH) criteria make a diagnosis possible from about 4 years of age. Examination of children and adults should encom­pass a physical and a subjective component, but also next-generation sequencing (NGS) genetic analysis, histopathological examination of skin lesions, neurological, ophthalmological and radiological examination. If a malignant peripheral nerve sheath tumor (MNPST) is diagnosed in a patient with NF1, the therapeutic procedure should not differ from the general principles of treating soft tissue sarcomas. Patients from the high risk group should be monitored at least once a year, the remaining patients once every 2–3 years by a specialized medical team, and every year by their primary physicians, internal medicine specialists and dermatologists. Patients should have access to genetic counselling.

Full Text:

View PDF Download PDF file View HTML
Get Citation

Keywords

neurofibromatosis 1; diagnosis; sarcomas

About this article
Title

Recommendations of the Polish Sarcoma Group on diagnostic-therapeutic procedures and control in patients with type 1 neurofibromatosis (NF1) and the associated malignant neoplasm of peripheral nerve sheaths

Journal

Nowotwory. Journal of Oncology

Issue

Vol 72, No 2 (2022)

Article type

Guidelines / Expert consensus

Pages

106-128

Published online

2022-04-08

Page views

5292

Article views/downloads

682

DOI

10.5603/NJO.2022.0018

Bibliographic record

Nowotwory. Journal of Oncology 2022;72(2):106-128.

Keywords

neurofibromatosis 1
diagnosis
sarcomas

Authors

Piotr Rutkowski
Anna Raciborska
Anna Szumera-Ciećkiewicz
Paweł Sobczuk
Mateusz Spałek
Hanna Koseła-Paterczyk
Iwona Ługowska
Katarzyna Bilska
Monika Gos
Janusz Ryś
Ewa Chmielik
Andrzej Tysarowski
Konrad Zaborowski
Małgorzata Oczko-Wojciechowska
Patrycja Castaneda-Wysocka
Donata Makuła
Marcin Zdzienicki
Marcin Ziętek
Piotr Fonrobert
Kamil Dolecki
Marek Dedecjus
Anna M. Czarnecka

References (130)
  1. 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.
    CrossRefPubMed
  2. Gutmann D, Ferner R, Listernick R, et al. Neurofibromatosis type 1. Nature Reviews Disease Primers. 2017; 3(1).
    CrossRef
  3. Cichowski K, Jacks T. NF1 Tumor Suppressor Gene Function. Cell. 2001; 104(4): 593–604.
    CrossRef
  4. Stephens K, Kayes L, Riccardi VM, et al. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet. 1992; 88(3): 279–282.
    CrossRefPubMed
  5. Masocco M, Kodra Y, Vichi M, et al. Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006). Orphanet J Rare Dis. 2011; 6: 11.
    CrossRefPubMed
  6. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001; 68(5): 1110–1118.
    CrossRefPubMed
  7. 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.
    CrossRefPubMed
  8. Uusitalo E, Leppävirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol. 2015; 135(3): 904–906.
    CrossRefPubMed
  9. Philpott C, Tovell H, Frayling I, et al. The NF1 somatic mutational landscape in sporadic human cancers. Human Genomics. 2017; 11(1).
    CrossRef
  10. Bergoug M, Doudeau M, Godin F, et al. Neurofibromin Structure, Functions and Regulation. Cells. 2020; 9(11): 2365.
    CrossRef
  11. Philpott C, Tovell H, Frayling IM, et al. The NF1 somatic mutational landscape in sporadic human cancers. Hum Genomics. 2017; 11(1): 13.
    CrossRefPubMed
  12. Kiuru M, Busam KJ. The NF1 gene in tumor syndromes and melanoma. Lab Invest. 2017; 97(2): 146–157.
    CrossRefPubMed
  13. Karwacki MW, Wysocki M, Jatczak-Gaca A, et al. Polski standard medycznej opieki koordynowanej dla dzieci z neurofibromatozami. Przegląd Pediatryczny. 2019; 48(3): 152–172.
  14. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987. Neurofibromatosis. 1988; 1(3): 172–178.
    PubMed
  15. 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.
    CrossRefPubMed
  16. Karwacki MW. Kiedy podejrzewać neurofibromatozę typu 1? Jak wygląda w Polsce opieka nad dziećmi chorymi na NF-1? In: 5000 pytań z pediatrii. Medycyna Praktyczna Pediatria 2021: 1.
  17. Karwacki MW. Małe dziecko ze skórnymi plamami koloru kawy z mlekiem: kogo, dlaczego, kiedy i gdzie powinien skierować lekarz pediatra lub lekarz POZ. Stand Med Pediatr. 2019; 16: 53–67.
  18. Evans D, Salvador H, Chang V, et al. Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. Clin Cancer Res. 2017; 23(12): e54–e61.
    CrossRef
  19. Parrozzani R, Clementi M, Frizziero L, et al. In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients. Invest Ophthalmol Vis Sci. 2015; 56(10): 6036–6042.
    CrossRefPubMed
  20. Tadini G, Milani D, Menni F, et al. Is it time to change the neurofibromatosis 1 diagnostic criteria? Eur J Intern Med. 2014; 25(6): 506–510.
    CrossRef
  21. Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genetics in Medicine. 2021; 23(8): 1506–1513.
    CrossRef
  22. Miller DT, Freedenberg D, Schorry E, et al. COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Health Supervision for Children With Neurofibromatosis Type 1. Pediatrics. 2019; 143(5).
    CrossRefPubMed
  23. Eichenfield LF, Levy ML, Paller AS. Guidelines of care for neurofibromatosis type 1. American Academy of Dermatology Guidelines/Outcomes Committee. J Am Acad Dermatol. 1997; 37(4): 625–630.
    CrossRefPubMed
  24. Payne JM, Moharir MD, Webster R, et al. Brain structure and function in neurofibromatosis type 1: current concepts and future directions. J Neurol Neurosurg Psychiatry. 2010; 81(3): 304–309.
    CrossRefPubMed
  25. Sąsiadek M, Łaczmańska I, Maciejczyk A, et al. Fundamentals of personalised medicine in genetic testing-based oncology. Nowotwory. Journal of Oncology. 2020; 70(4): 144–149.
    CrossRef
  26. Pasmant E, Parfait B, Luscan A, et al. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? Eur J Hum Genet. 2015; 23(5): 596–601.
    CrossRefPubMed
  27. Wu-Chou YH, Hung TC, Lin YT, et al. Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis. J Biomed Sci. 2018; 25(1): 72.
    CrossRefPubMed
  28. Abramowicz A, Gos M. [Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis]. Postepy Hig Med Dosw (Online). 2015; 69: 1331–1348.
    CrossRefPubMed
  29. 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.
    PubMed
  30. Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405–424.
    CrossRefPubMed
  31. Valero MC, Martín Y, Hernández-Imaz E, et al. A Highly Sensitive Genetic Protocol to Detect NF1 Mutations. The Journal of Molecular Diagnostics. 2011; 13(2): 113–122.
    CrossRef
  32. Jang MA, Kim YE, Kim SK, et al. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. J Hum Genet. 2016; 61(8): 705–709.
    CrossRefPubMed
  33. Ejerskov C, Raundahl M, Gregersen PA, et al. Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review. Orphanet J Rare Dis. 2021; 16(1): 180.
    CrossRefPubMed
  34. Perez-Valencia JA, Gallon R, Chen Y, et al. Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1. Genet Med. 2020; 22(12): 2081–2088.
    CrossRefPubMed
  35. Conboy E, Dhamija R, Wang M, et al. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. J Med Genet. 2016; 53(2): 123–126.
    CrossRefPubMed
  36. Karwacki M. Racjonalne przesłanki do wyłączenia nerwiakowłókniakowatości z rodziny RASopatii i fakomatoz – podstawy projektu zarządzania chorobą w ramach koordynowanej opieki medycznej. Nowa Pediatria. 2019; 23(1).
    CrossRef
  37. Rodrigues LOC, Batista PB, Goloni-Bertollo EM. Neurofibromatoses: part 1 - diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014; 72(3): 241–250.
    CrossRefPubMed
  38. Brohl AS, Kahen E, Yoder SJ, et al. The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation. Sci Rep. 2017; 7(1): 14992.
    CrossRefPubMed
  39. Stella A, Lastella P, Loconte DC, et al. Accurate Classification of Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. Genes (Basel). 2018; 9(4).
    CrossRefPubMed
  40. The WHO Classification of Tumours Editorial Boar. WHO Classification of Tumours Soft Tissue and Bone Tumours, 5th ed. IARC Press, Lyon 2020.
  41. Miettinen MM, Antonescu CR, Fletcher CDM, et al. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Hum Pathol. 2017; 67: 1–10.
    CrossRefPubMed
  42. Meyer A, Billings SD. What's new in nerve sheath tumors. Virchows Arch. 2020; 476(1): 65–80.
    CrossRefPubMed
  43. Martinez AP, Fritchie KJ. Update on Peripheral Nerve Sheath Tumors. Surg Pathol Clin. 2019; 12(1): 1–19.
    CrossRefPubMed
  44. Walsh KS, Velez JI, Kardel PG, et al. Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol. 2013; 55(2): 131–138.
    CrossRefPubMed
  45. Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1. Dev Med Child Neurol. 2017; 59(11): 1112–1116.
    CrossRefPubMed
  46. Evans D, Kallionpää R, Clementi M, et al. Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study. Genet Med. 2020; 22(2): 398–406.
    CrossRef
  47. Hirbe A, Gutmann D. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014; 13(8): 834–843.
    CrossRef
  48. Sharif S, Ferner R, Birch JM, et al. Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol. 2006; 24(16): 2570–2575.
    CrossRefPubMed
  49. An Update on Neurofibromatosis Type 1-Associated Gliomas. Cancers. 2020; 12(1): 114.
    CrossRef
  50. Walther MM, Herring J, Enquist E, et al. von Recklinghausen's disease and pheochromocytomas. J Urol. 1999; 162(5): 1582–1586.
    PubMed
  51. Nguyen R, Kluwe L, Fuensterer C, et al. Plexiform neurofibromas in children with neurofibromatosis type 1: frequency and associated clinical deficits. J Pediatr. 2011; 159(4): 652–5.e2.
    CrossRefPubMed
  52. Packer RJ, Gutmann DH, Rubenstein A, et al. Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology. 2002; 58(10): 1461–1470.
    CrossRefPubMed
  53. Korf BR. Plexiform neurofibromas. Am J Med Genet. 1999; 89(1): 31–37, doi: 10.1002/(sici)1096-8628(19990326)89:1<31::aid-ajmg7>3.0.co;2-w.
    PubMed
  54. Casey D, Demko S, Sinha A, et al. FDA Approval Summary: Selumetinib for Plexiform Neurofibroma. Clin Cancer Res. 2021; 27(15): 4142–4146.
    CrossRefPubMed
  55. Solares I, Viñal D, Morales-Conejo M, et al. Novel molecular targeted therapies for patients with neurofibromatosis type 1 with inoperable plexiform neurofibromas: a comprehensive review. ESMO Open. 2021; 6(4): 100223.
    CrossRefPubMed
  56. Gross A, Wolters P, Dombi E, et al. Selumetinib in Children with Inoperable Plexiform Neurofibromas. N Engl J Med. 2020; 382(15): 1430–1442.
    CrossRef
  57. Kołt-Kamińska M, Krawczyk K, Reich A. Selumetynib — pierwszy lek skuteczny w terapii nerwiakowłókniaków splotowatych w przebiegu neurofibromatozy typu 1. Forum Dermatologicum. 2020; 6(2): 50–54.
    CrossRef
  58. Fisher MJ, Shih CS, Rhodes SD, et al. Cabozantinib for neurofibromatosis type 1-related plexiform neurofibromas: a phase 2 trial. Nat Med. 2021; 27(1): 165–173.
    CrossRefPubMed
  59. Weiss BD, Wolters PL, Plotkin SR, et al. NF106: A Neurofibromatosis Clinical Trials Consortium Phase II Trial of the MEK Inhibitor Mirdametinib (PD-0325901) in Adolescents and Adults With NF1-Related Plexiform Neurofibromas. J Clin Oncol. 2021; 39(7): 797–806.
    CrossRefPubMed
  60. Tucker T, Schnabel C, Hartmann M, et al. Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet. 2008; 46(4): 259–265.
    CrossRef
  61. 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.
    CrossRefPubMed
  62. Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med. 2002; 4(3): 105–111.
    CrossRefPubMed
  63. Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med. 2002; 4(3): 105–111.
    CrossRefPubMed
  64. Rea D, Brandsema JF, Armstrong D, et al. Cerebral arteriopathy in children with neurofibromatosis type 1. Pediatrics. 2009; 124(3): e476–e483.
    CrossRefPubMed
  65. Majewska K, Pupek-Musialik D, Bogdański P. Nadciśnienie tętnicze u pacjenta z chorobą Recklinghausena — opis przypadku. Forum Zaburzeń Metabolicznych. 2016; 7(3): 138–144.
  66. Jensen SE, Patel ZS, Listernick R, et al. Lifespan Development: Symptoms Experienced by Individuals with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas from Childhood into Adulthood. J Clin Psychol Med Settings. 2019; 26(3): 259–270.
    CrossRefPubMed
  67. Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. American Journal of Medical Genetics. 1996; 66(1): 7–10, doi: 10.1002/(sici)1096-8628(19961202)66:1<7::aid-ajmg2>3.0.co;2-r.
  68. Duong TA, Bastuji-Garin S, Valeyrie-Allanore L, et al. Evolving pattern with age of cutaneous signs in neurofibromatosis type 1: a cross-sectional study of 728 patients. Dermatology. 2011; 222(3): 269–273.
    CrossRefPubMed
  69. Brenaut E, Nizery-Guermeur C, Audebert-Bellanger S, et al. Clinical Characteristics of Pruritus in Neurofibromatosis 1. Acta Dermato Venereologica. 2016; 96(3): 398–399.
    CrossRef
  70. Madubata CC, Olsen MA, Stwalley DL, et al. Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis. Genet Med. 2015; 17(1): 36–42.
    CrossRefPubMed
  71. Descheemaeker MJ, Plasschaert E, Frijns JP, et al. Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group. J Intellect Disabil Res. 2013; 57(9): 874–886.
    CrossRefPubMed
  72. Tonsgard J, Yelavarthi K, Cushner S, et al. Do NF1 gene deletions result in a characteristic phenotype? Am J Med Genet. 1997; 73(1): 80–86, doi: 10.1002/(sici)1096-8628(19971128)73:1<80::aid-ajmg16>3.0.co;2-n.
  73. Cohen JS, Levy HP, Sloan J, et al. Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life. Clin Genet. 2015; 88(5): 425–430.
    CrossRefPubMed
  74. Pavol M, Hiscock M, Massman P, et al. Neuropsychological function in adults with von Recklinghausen's neurofibromatosis. Dev Neuropsychol. 2006; 29(3): 509–526.
    CrossRefPubMed
  75. Mautner VF, Granström S, Leark RA. Impact of ADHD in adults with neurofibromatosis type 1: associated psychological and social problems. J Atten Disord. 2015; 19(1): 35–43.
    CrossRefPubMed
  76. Stewart DR, Korf BR, Nathanson KL, et al. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018; 20(7): 671–682.
    CrossRefPubMed
  77. Well L, Salamon J, Kaul MG, et al. Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging. Neuro Oncol. 2019; 21(4): 508–516.
    CrossRefPubMed
  78. Matsumine A, Kusuzaki K, Nakamura T, et al. Differentiation between neurofibromas and malignant peripheral nerve sheath tumors in neurofibromatosis 1 evaluated by MRI. J Cancer Res Clin Oncol. 2009; 135(7): 891–900.
    CrossRefPubMed
  79. Evans D, Salvador H, Chang V, et al. Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. Clinical Cancer Research. 2017; 23(12): e54–e61.
    CrossRef
  80. Listernick R, Louis DN, Packer RJ, et al. Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force. Ann Neurol. 1997; 41(2): 143–149.
    CrossRefPubMed
  81. Evans DG, Huson SM, Birch JM. Malignant peripheral nerve sheath tumours in inherited disease. Clin Sarcoma Res. 2012; 2(1): 17.
    CrossRefPubMed
  82. Wasa J, Nishida Y, Tsukushi S, et al. MRI features in the differentiation of malignant peripheral nerve sheath tumors and neurofibromas. AJR Am J Roentgenol. 2010; 194(6): 1568–1574.
    CrossRefPubMed
  83. 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.
    CrossRefPubMed
  84. Shinall MC, Solórzano CC. Pheochromocytoma in Neurofibromatosis Type 1: When Should it Be Suspected? Endocr Pract. 2014; 20(8): 792–796.
    CrossRefPubMed
  85. Lumachi F, Tregnaghi A, Zucchetta P, et al. Sensitivity and positive predictive value of CT, MRI and 123I-MIBG scintigraphy in localizing pheochromocytomas: a prospective study. Nucl Med Commun. 2006; 27(7): 583–587.
    CrossRefPubMed
  86. Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E. Basal ganglia lesions in children and adults. Eur J Radiol. 2013; 82(5): 837–849.
    CrossRefPubMed
  87. Gill DS, Hyman SL, Steinberg A, et al. Age-related findings on MRI in neurofibromatosis type 1. Pediatr Radiol. 2006; 36(10): 1048–1056.
    CrossRefPubMed
  88. Bekiesinska-Figatowska M. A mini review on neurofibromatosis type 1 from the radiological point of view. J Rare Dis Res Treat. 2017; 2(6): 45–49.
    CrossRef
  89. Gutmann DH, Rasmussen SA, Wolkenstein P, et al. Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology. 2002; 59(5): 759–761.
    CrossRefPubMed
  90. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009; 61(1): 1–14; quiz 15.
    CrossRefPubMed
  91. Sałamacha M, Koseła H, Falkowski S, et al. Zespół von Recklinghausena (Neurofibromatoza typu 1) – najczęstszy uwarunkowany genetycznie zespół prowadzący do powstawania mięsaków tkanek miękkich. Nowotwory. Journal of Oncology. 2011; 61(1): 43.
  92. Assadi M, Velez E, Najafi M, et al. PET Imaging of Peripheral Nerve Tumors. PET Clinics. 2019; 14(1): 81–89.
    CrossRef
  93. Martin E, Geitenbeek RTJ, Coert JH, et al. A Bayesian approach for diagnostic accuracy of malignant peripheral nerve sheath tumors: a systematic review and meta-analysis. Neuro Oncol. 2021; 23(4): 557–571.
    CrossRefPubMed
  94. James AW, Shurell E, Singh A, et al. Malignant Peripheral Nerve Sheath Tumor. Surg Oncol Clin N Am. 2016; 25(4): 789–802.
    CrossRefPubMed
  95. Gronchi A, Miah AB, Dei Tos AP, et al. Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021; 32(11): 1348–1365.
    CrossRefPubMed
  96. Evans DGR, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002; 39(5): 311–314.
    CrossRefPubMed
  97. Ducatman BS, Scheithauer BW, Piepgras DG, et al. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 1986; 57(10): 2006–2021, doi: 10.1002/1097-0142(19860515)57:10<2006::aid-cncr2820571022>3.0.co;2-6.
    PubMed
  98. Czarnecka AM, Sobczuk P, Zdzienicki M, et al. Malignant peripheral nerve sheath tumour (MPNST). Oncol Clin Pract . 2018; 14(6): 364–376.
    CrossRef
  99. Tucker T, Wolkenstein P, Revuz J, et al. Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology. 2005; 65(2): 205–211.
    CrossRefPubMed
  100. Kolberg M, Høland M, Agesen TH, et al. Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1. Neuro Oncol. 2013; 15(2): 135–147.
    CrossRefPubMed
  101. Porter DE, Prasad V, Foster L, et al. Survival in Malignant Peripheral Nerve Sheath Tumours: A Comparison between Sporadic and Neurofibromatosis Type 1-Associated Tumours. Sarcoma. 2009; 2009: 756395.
    CrossRefPubMed
  102. Valentin T, Le Cesne A, Ray-Coquard I, et al. Management and prognosis of malignant peripheral nerve sheath tumors: The experience of the French Sarcoma Group (GSF-GETO). Eur J Cancer. 2016; 56: 77–84.
    CrossRefPubMed
  103. Sobczuk P, Teterycz P, Czarnecka AM, et al. Malignant peripheral nerve sheath tumors - Outcomes and prognostic factors based on the reference center experience. Surg Oncol. 2020; 35: 276–284.
    CrossRefPubMed
  104. Anghileri M, Miceli R, Fiore M. Malignant peripheral nerve sheath tumors: prognostic factors and survival in a series of patients treated at a single institution. Cancer. 2006; 107(5): 1065–1074.
    CrossRefPubMed
  105. LaFemina J, Qin LX, Moraco NH, et al. Oncologic outcomes of sporadic, neurofibromatosis-associated, and radiation-induced malignant peripheral nerve sheath tumors. Ann Surg Oncol. 2013; 20(1): 66–72.
    CrossRefPubMed
  106. Czarnecka AM, et al. Malignant peripheral nerve sheath tumour (MPNST).
  107. Sobczuk P, Teterycz P, Czarnecka AM, et al. Malignant peripheral nerve sheath tumors - Outcomes and prognostic factors based on the reference center experience. Surg Oncol. 2020; 35: 276–284.
    CrossRefPubMed
  108. Gupta G, Mammis A, Maniker A. Malignant peripheral nerve sheath tumors. Neurosurg Clin N Am. 2008; 19(4): 533–543, v.
    CrossRefPubMed
  109. Martin E, Flucke UE, Coert JH, et al. Treatment of malignant peripheral nerve sheath tumors in pediatric NF1 disease. Childs Nerv Syst. 2020; 36(10): 2453–2462.
    CrossRefPubMed
  110. Salerno KE, Alektiar KM, Baldini EH, et al. Radiation Therapy for Treatment of Soft Tissue Sarcoma in Adults: Executive Summary of an ASTRO Clinical Practice Guideline. Pract Radiat Oncol. 2021; 11(5): 339–351.
    CrossRefPubMed
  111. Kozak K, Spałek M. Perioperative management of soft tissue sarcomas. Oncology in Clinical Practice. 2019; 14(6): 302–306.
    CrossRef
  112. Spałek MJ, Kozak K, Czarnecka AM, et al. Neoadjuvant Treatment Options in Soft Tissue Sarcomas. Cancers. 2020; 12(8).
    CrossRef
  113. Rutkowski P. Soft Tissue Sarcomas. Via Medica, Gdańsk 2016.
  114. National Comprehensive Cancer Network. Soft Tissue Sarcoma (Version 2.2021). https://www.nccn.org/professionals/physician_gls/pdf/sarcoma.pdf (30.08.2021).
  115. Spałek M, Borkowska A. Current advances in radiotherapy for soft tissue sarcomas. Nowotwory. Journal of Oncology. 2020; 70(6): 288–295.
    CrossRef
  116. Spałek MJ, Koseła-Paterczyk H, Borkowska A, et al. Combined Preoperative Hypofractionated Radiotherapy With Doxorubicin-Ifosfamide Chemotherapy in Marginally Resectable Soft Tissue Sarcomas: Results of a Phase 2 Clinical Trial. Int J Radiat Oncol Biol Phys. 2021; 110(4): 1053–1063.
    CrossRefPubMed
  117. Spałek MJ, Borkowska AM, Telejko M, et al. The Feasibility Study of Hypofractionated Radiotherapy with Regional Hyperthermia in Soft Tissue Sarcomas. Cancers (Basel). 2021; 13(6).
    CrossRefPubMed
  118. Evans DGR, Birch JM, Ramsden RT, et al. Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet. 2006; 43(4): 289–294.
    CrossRefPubMed
  119. Gronchi A, Miah AB, Dei Tos AP, et al. Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2021; 32(11): 1348–1365.
    CrossRefPubMed
  120. Carli M, Ferrari A, Mattke A, et al. Pediatric malignant peripheral nerve sheath tumor: the Italian and German soft tissue sarcoma cooperative group. J Clin Oncol. 2005; 23(33): 8422–8430.
    CrossRefPubMed
  121. Gronchi A, Ferrari S, Quagliuolo V, et al. Histotype-tailored neoadjuvant chemotherapy versus standard chemotherapy in patients with high-risk soft-tissue sarcomas (ISG-STS 1001): an international, open-label, randomised, controlled, phase 3, multicentre trial. Lancet Oncol. 2017; 18(6): 812–822.
    CrossRef
  122. Gronchi A, Palmerini E, Quagliuolo V, et al. Neoadjuvant Chemotherapy in High-Risk Soft Tissue Sarcomas: Final Results of a Randomized Trial From Italian (ISG), Spanish (GEIS), French (FSG), and Polish (PSG) Sarcoma Groups. J Clin Oncol. 2020; 38(19): 2178–2186.
    CrossRef
  123. Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 2002; 62(5): 1573–1577.
    PubMed
  124. Kroep JR, Ouali M, Gelderblom H, et al. First-line chemotherapy for malignant peripheral nerve sheath tumor (MPNST) versus other histological soft tissue sarcoma subtypes and as a prognostic factor for MPNST: an EORTC soft tissue and bone sarcoma group study. Ann Oncol. 2011; 22(1): 207–214.
    CrossRefPubMed
  125. Sobczuk P, Teterycz P, Czarnecka AM, et al. Systemic Treatment for Advanced and Metastatic Malignant Peripheral Nerve Sheath Tumors-A Sarcoma Reference Center Experience. J Clin Med. 2020; 9(10).
    CrossRefPubMed
  126. Zehou O, Fabre E, Zelek L, et al. Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review. Orphanet J Rare Dis. 2013; 8: 127.
    CrossRefPubMed
  127. Sobczuk P, Teterycz P, Czarnecka AM, et al. Systemic Treatment for Advanced and Metastatic Malignant Peripheral Nerve Sheath Tumors-A Sarcoma Reference Center Experience. J Clin Med. 2020; 9(10).
    CrossRefPubMed
  128. Barrett-Lee PJ, Dixon JM, Farrell C, et al. Expert opinion on the use of anthracyclines in patients with advanced breast cancer at cardiac risk. Ann Oncol. 2009; 20(5): 816–827.
    CrossRefPubMed
  129. 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.
    CrossRefPubMed
  130. Yoo KH, Kim HS, Lee SuJ, et al. Efficacy of pazopanib monotherapy in patients who had been heavily pretreated for metastatic soft tissue sarcoma: a retrospective case series. BMC Cancer. 2015; 15: 154.
    CrossRefPubMed

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

Wydawcą serwisu jest VM Media Group sp. z o.o., ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail: viamedica@viamedica.pl