Meeting of the Expert Council “Plexiform Neurofibromas in Neurofibromatosis Type 1”
The meeting of the Expert Council “Plexiform Neurofibromas in Neurofibromatosis Type 1” was held in Almaty, bringing together specialists in neurology, oncology, chemotherapy, and radiology.
The main objective of the meeting was to discuss current approaches to the diagnosis and treatment of adult patients with neurofibromatosis type 1 (NF1) and symptomatic inoperable plexiform neurofibromas, as well as issues related to long-term multidisciplinary follow-up.
NF1 is one of the most common hereditary neurocutaneous disorders caused by pathogenic variants in the NF1 gene. The disease is characterized by multisystem involvement, including cutaneous manifestations, neurofibromas, plexiform neurofibromas, as well as skeletal, ophthalmological, and neurological abnormalities.
Plexiform neurofibromas (PN) are among the most significant complications of NF1. They may cause chronic pain, neurological deficits, functional limitations, and a substantial reduction in quality of life. In some patients, tumor progression and malignant transformation may occur, necessitating lifelong multidisciplinary follow-up.
The meeting was moderated by:
- Kaldygul Kabakovna Smagulova — PhD in Medicine, Associate Professor, Head of the Day-Care Chemotherapy Unit, Chemotherapist at Kazakh Institute of Oncology and Radiology JSC, Almaty.
- Bakhyt Tasbulatovna Zhusupova — PhD in Medicine, MBA, Head of the Chemotherapy Service at the Multidisciplinary Medical Center, Astana.
- Saule Tleubergenovna Turuspekova — Doctor of Medical Sciences, Professor, Head of the Department of Nervous Diseases at S.D. Asfendiyarov Kazakh National Medical University, Chief Freelance Neurologist of the Ministry of Health of the Republic of Kazakhstan, Almaty.
The participation of the Department of Nervous Diseases of S.D. Asfendiyarov Kazakh National Medical University held a special place in the work of the Expert Council. The meeting was attended by Saule Tleubergenovna Turuspekova, Doctor of Medical Sciences, Head of the Department of Nervous Diseases, Chief Freelance Neurologist of the Ministry of Health of the Republic of Kazakhstan; Zhannat Rustemovna Idrisova, Doctor of Medical Sciences, Professor of the Department of Nervous Diseases; and Erkyn Smagulovich Nurguzhaev, Professor of the Department of Nervous Diseases, President of the Association of Neurologists of the Republic of Kazakhstan.
As part of the scientific program, a series of key expert presentations was delivered.
Zhannat Rustemovna Idrisova presented “Disease Burden and Key Approaches to the Diagnosis of PN in Neurofibromatosis Type 1,” addressing the clinical manifestations of the disease, diagnostic challenges, and the impact of PN on patients’ quality of life.
Bakyt Serzhanovna Duysenbayeva, Head of the Department of Radiology, Radiologist at the UMC Corporate Foundation, Diagnostic and Radiology Center, Astana, Chief Freelance Radiologist of the Ministry of Health of the Republic of Kazakhstan, presented current imaging capabilities for the diagnosis of plexiform neurofibromas in NF1.
Bakhyt Tasbulatovna Zhusupova, PhD in Medicine, MBA, Head of the Chemotherapy Service at the Multidisciplinary Medical Center, Astana, presented current therapeutic and surgical options for PN associated with NF1.
Saule Tleubergenovna Turuspekova delivered a presentation on current data regarding the results of the Phase III KOMET trial in the treatment of adult patients with symptomatic inoperable PN.
During the third session, Dauranbek Tursunkulovich Arybzhanov, Deputy Director for Clinical Affairs, Oncologist at the Regional Multidisciplinary Clinic, Taldykorgan, presented ERN GENTURIS recommendations for monitoring tumor predisposition syndromes.
Zaure Dmitrievna Dushimova, Head of the Center for Orphan Diseases, Oncologist at the Research Institute of Cardiology and Internal Medicine JSC, presented the current situation regarding the organization of targeted therapy for symptomatic inoperable PN in the Republic of Kazakhstan.
Laura Yerkenovna Yesszhanova, Head of the Department of Neurology at Astana Medical University, also actively participated in the expert discussion, emphasizing the importance of continuity between pediatric and adult healthcare services and the development of a multidisciplinary model for patient follow-up.
During the discussion, the experts addressed issues of early diagnosis, patient referral pathways, imaging monitoring of PN, criteria for initiating and evaluating treatment, the safety of targeted therapy, and the need for lifelong follow-up of patients with NF1.
Following the meeting, priority areas for further work were identified: improving diagnosis and patient referral pathways, developing a multidisciplinary approach, ensuring continuity between pediatric and adult healthcare services, increasing access to specialized therapy, and establishing an effective system of lifelong follow-up for adult patients with NF1.
The meeting of the Expert Council served as an important platform for bringing together the expertise of the neurological and oncology communities and developing a unified expert approach to the management of patients with NF1 and plexiform neurofibromas in the Republic of Kazakhstan.
