Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Makashova, Elizaveta; Карандашева, К. О.; Zolotova, S V; Ginzberg, M. A.; Dorofeeva, M. Yu.; Galkin, Mikhail; Golanov, Andrey

doi:10.17650/2222-8721-2022-12-1-39-48

Neuromuscular Diseases

2022

DOI: 10.17650/2222-8721-2022-12-1-39-48

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Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Elizaveta Makashova

К. О. Карандашева

S V Zolotova³

et al.

Abstract: Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are characterized by gradual phenotype development and have a partially overlapping spectrum of manifestations, which complicates diagnosis establishing, especially at the stage of clinical onset. At the same time, the emergence of new pathogenetic therapy and the high r… Show more

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Cited by 4 publications

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Neurofibromatosis type 2 in the otorhinolaryngological practice

Subbotina,

Berseneva

2024

Vestn. otorinolaringol.

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Neurofibromatosis type 2 in the otorhinolaryngological practice

Subbotina,

Berseneva

2024

Vestn. otorinolaringol.

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Soft tissue sarcomas associated with neurofibromatosis: treatment experience

Zubarev,

Kurilchik,

Ivanov

et al. 2024

jour

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Soft tissue sarcomas are a rare and heterogeneous group of solid tumors originating from the mesenchyme and accounting for only 1 % of all malignant neoplasms in adults. The modern clinical and morphological World Health Organization of soft tissue sarcomas classification includes more than 100 forms of these tumors. Neurofibromatosis is a group of hereditary, autosomal dominant diseases characterized by the development of multiple tumor formations, often benign. Currently, there are 3 types: neutrophibromatosis type I, neurofibromatosis type II and schwannomatosis. The estimated risk of developing sarcoma in patients with neurofibromatosis type 1 at age 30 years is 25.1 %, and by age 50 years it is 38.8 %. Treatment of soft tissue sarcomas associated with neurofibromatosis fully complies with the standard recommendations of National Comprehensive Cancer Network, NCCN (NCCN), American Society of Clinical Oncology (ASCO), European Society for Medical Oncology (ESMO) and RUSSCO and does not have its own peculiarities. Over the past 15 years, at the A.F. Tsyb Medical Radiological Research Center – branch of the National Medical Research Radiological Center, more than 190 patients with locally advanced, high-grade soft tissue sarcomas have been treated, including five patients with sarcomas associated with neurofibromatosis. The article presents clinical cases of treatment of soft tissue sarcomas associated with neurofibromatosis.

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Diagnosis and treatment of the giant malignant peripheral nerve sheath tumor in the anterior mediastinum: A case report

Gofman¹,

Esakov²,

Tukvadze³

et al. 2023

Digital Diagnostics

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INTRODUCTION: Malignant peripheral nerve sheath tumor (MPNST) occurs in young and middle-aged people, more frequently in those with the genetic disease known as neurofibromatosis type 1 (NF1). Approximately, 50% of people with MPNST have NF1 and 13% of people with NF1 will get MPNST during their lifetime. CASE REPORT: A 30-year-old patient after surgery for MPNST of the right hip in 2013 was observed. In 2017, a relapse was detected, and combined treatment was performed, including surgical excision of the relapse and postoperative distance radiotherapy with a total focal dose of 66 Gy. In 2018, MPNST of the left femoral nerve was diagnosed, and the tumor was excised. In 2020, a chest X-ray diagnosed a single focus of localized opacity in the anterior mediastinum, adjacent to the right lung. Computed tomography (CT) was performed to further verify the neoplasm, which revealed a single hypodense focus in the anterior mediastinum, adjacent to the right lung. According to histological examination of a tumor biopsy obtained by transthoracic ultrasound-guided biopsy, MPNST was verified. Magnetic resonance imaging (MRI) with intravenous contrast enhancement, including real-time MRI, was performed to assess the invasion of the mass into soft tissues and vessels and to plan surgical treatment. The following surgeries were done: right thoracotomy, removal of a neoplasm of the anterior mediastinum with resection of the upper lobe of the right lung, and marginal resections of the lower lobe of the right lung. This case demonstrates a rare localization and non-standard instrumental diagnosis of mediastinal MPNST. Apart from CT scanning, the patient underwent MRI of the thoracic organs. MRI allows assessing the invasion of the neoplasm into the surrounding tissues. This cannot always be achieved by CT scans, including those with contrast enhancement. Invasion is an important component in the planning of further surgical treatment tactics. CONCLUSIONS: MPNST is a tumor with an aggressive course and a poor prognosis due to resistance to therapy. This clinical case demonstrates a rare localized MPNST with a recurrent course and metastases to the lungs. The current radiological methods, such as CT and MRI, may be used effectively both for diagnosing MPNST and determining the appropriate surgical access to the lesion and the extent of surgery.

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Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Cited by 4 publications

References 52 publications

Neurofibromatosis type 2 in the otorhinolaryngological practice

Neurofibromatosis type 2 in the otorhinolaryngological practice

Soft tissue sarcomas associated with neurofibromatosis: treatment experience

Diagnosis and treatment of the giant malignant peripheral nerve sheath tumor in the anterior mediastinum: A case report

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