open access

Vol 72, No 2 (2022)
Guidelines / Expert consensus
Published online: 2022-04-08
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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.

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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

706

Article views/downloads

77

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

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