Lymphocyte Subpopulations in Patients With Neurofibromatosis Type 1-associated Optic Pathway Gliomas and Plexiform Neurofibromas

Marjańska, Agata; Kubicka, Małgorzata; Kuryło-Rafińska, Beata; Jatczak-Gaca, Agnieszka; Wysocki, Mariusz; Styczyński, Jan

doi:10.21873/anticanres.13852

Cited by 2 publications

(3 citation statements)

References 20 publications

(25 reference statements)

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“…OPGs affect about 15% of patients with NF1 and usually arise during the first decade of life [8,14]. In our cohort, the prevalence of OPGs was (NHL) were also increased with the values of 5.4 and 10, respectively [16].…”

Section: Discussionsupporting

confidence: 52%

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No significant risk of hematological malignancy in patients with neurofibromatosis type 1: single center study of children and adults

Marjańska

Styczyński

Jatczak-Gaca

et al. 2020

Acta Haematologica Polonica

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AbstractBackground/AimNeurofibromatosis type 1 (NF1) is characterized by the occurrence of multisystem tumors. The objective of this study was to analyze the demographic and oncological profile of 830 NF1-individuals regarding prevalence, type, and spectrum of malignancy.Patients and methodsThe medical records of patients diagnosed with NF1 with a median age of 22.1 years (range: 0.8–81.6 years) who were followed up for malignancies from 1999 to 2018 were retrospectively reviewed.ResultsThe prevalence of malignancy occurring in patients diagnosed with NF1 was 34.8% (289/830). The most common types of neoplasia encompassed tumors strictly associated with NF1, including plexiform neurofibromas (PNF; 200/830; 24.1%) and optic pathway gliomas (91/830; 11%). The prevalence of PNFs-transforming to malignant peripheral nerve sheath tumors (MPNST) was 3.5% (7/200). The prevalence of other tumors was 4.8% (40/830). One patient was diagnosed with acute myeloid leukemia (AML), thus the risk of hematological malignancies among all patients with NF1 was 0.1% (1/830). In the population of patients with malignancies, 43/289 (14.9%) individuals were diagnosed with more than one malignancy.ConclusionsThe odds ratio (OR) of malignancy in a studied cohort of patients with NF1 was 23 (p < 0.001), while the OR of hematological malignancy was 5.1 (p = 0.1) in comparison with the general population.

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Section: Discussionsupporting

confidence: 52%

“…and MPNST [8,9]. The lifetime risk of MPNST developing in NF1-in -dividuals has been estimated at 8-13%, as compared with 0.001% in the general population [10,11].…”

Section: Discussionmentioning

confidence: 99%

No significant risk of hematological malignancy in patients with neurofibromatosis type 1: single center study of children and adults

Marjańska

Styczyński

Jatczak-Gaca

et al. 2020

Acta Haematologica Polonica

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“…Например, в тканях ПН определяется значительно меньшее количество В-и Т-лимфоцитов, NK-клеток по сравнению с глиомами зрительных нервов. Это свидетельствует не только о сложности патогенеза НФ1, но и об особенностях механизмов роста отдельных типов опухолей при данной болезни [20]. О специфической роли иммунной системы в развитии определенных типов новообразований при НФ1 свидетельствуют изменения концентрации провоспалительных цитокинов в плазме крови пациентов.…”

Section: особенности гена Nf1 и патогенеза нф1unclassified

Prospects for the treatment of neurofibromatosis type 1: A review

Мустафин

2022

J. Mod. Onco.

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Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor syndrome with a prevalence of 1:3000 in human population. About 50% of NF1 cases are sporadic due to newly emerging germline mutations in NF1 gene. Protein product of NF1 is a neurofibromin, which inhibits RAS-RAF-MEK-ERK system. The prevalence of NF1 is increasing as patients are fertile. Therefore, it is important to use rapid diagnostic methods for NF1 mutations in NF1 families for prenatal prophylaxis. Mutations in NF1 gene play roles in sporadic carcinogenesis and in development of cancer resistance to chemotherapy. Specific for NF1 are multiple subcutaneous and cutaneous neurofibromas, age spots, skeletal abnormalities, mental retardation, tumors of the brain and optic nerves. Half of patients with NF1 develop plexiform neurofibromas, which disfigure them or compress vital organs. The difficulty in treating NF1 is due to involvement of immune system, since a large number of degranulating mast cells are found in neurofibromas. Mast cells secrete cytokines that dont provide a proper anti-tumor immune response, but initiate formation and growth of new neurofibromas. Therefore, long-term administration of ketotiphen was proposed for treatment of NF1 patients. Surgical removal of neurofibromas causes relapses and induction of the growth of new tumors; therefore, it is necessary to develop an effective therapy for NF1. The effectiveness of complex therapy of NF1 with use of ketotiphen, Lydase and Aevit, as well as monotherapy with an ATP-independent inhibitor of mitogen-activated protein kinase, has been described. For widespread clinical implementation of these methods, it is necessary to conduct studies on large sample of patients, as well as to make medicines available for patients. Gene therapy may become promising in the treatment of NF1, which requires identification of the type of mutation in NF1 gene in each individual and the use of specific microRNAs.

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Lymphocyte Subpopulations in Patients With Neurofibromatosis Type 1-associated Optic Pathway Gliomas and Plexiform Neurofibromas

Cited by 2 publications

References 20 publications

No significant risk of hematological malignancy in patients with neurofibromatosis type 1: single center study of children and adults

No significant risk of hematological malignancy in patients with neurofibromatosis type 1: single center study of children and adults

Prospects for the treatment of neurofibromatosis type 1: A review

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