Neurofibromatosis Type 1-associated Plexiform Neurofibromas Epidemiology

Key Highlights:

• Neurofibromatosis type 1, formerly known as von Recklinghausen’s disease, is a genetic condition that increases the likelihood of developing both benign (noncancerous) and malignant (cancerous) tumors, along with a range of physical and neurological symptoms.
• The rise in neurofibromatosis type 1-associated plexiform neurofibroma cases can be attributed to improved awareness, advancements in diagnostic techniques, and increased genetic testing accessibility. 
• Plexiform neurofibromas are identified in about 30–50% of neurofibromatosis type 1 via whole-body MRI.
• According to the analysis, approximately 70% of neurofibromatosis type 1-associated plexiform neurofibroma cases occurred in adults, while the remaining 30% were observed in pediatric patients.
• As per DelveInsight’s estimates, the majority of neurofibromatosis type 1-associated plexiform neurofibroma cases were symptomatic, as compared to asymptomatic cases.

DelveInsight’s “Neurofibromatosis Type 1-associated Plexiform Neurofibromas (NF1-PN)– Epidemiology – 2034” report delivers an in-depth understanding of neurofibromatosis type 1-associated plexiform neurofibromas, historical and forecasted epidemiology trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2021-2034

Neurofibromatosis Type 1-associated Plexiform Neurofibromas Disease Understanding

Neurofibromatosis Type 1-associated Plexiform Neurofibromas Overview

Neurofibromatosis type 1 is the most common tumor predisposition syndrome, caused by mutations in the neurofibromatosis type 1 gene, which leads to the loss of neurofibromin, a regulator of RAS activity. This results in the development of plexiform neurofibromas, peripheral nerve sheath tumors that cause significant morbidity in affected patients. Plexiform Neurofibromas is a defining feature of neurofibromatosis type 1, a genetic disorder that predisposes individuals to tumor development. These tumors are histologically benign but arise from peripheral nerves and often involve multiple nerve bundles. Plexiform Neurofibromas are composed of diverse cell types, including Schwann cells, fibroblasts, mast cells, perineural cells, and macrophages, reflecting the complex microenvironment that drives their growth. Though benign, plexiform neurofibromas can infiltrate surrounding tissues, causing structural distortion and contributing to significant morbidity. The multifaceted role of plexiform neurofibromas in neurofibromatosis type 1 highlights their impact beyond the peripheral nerves, influencing adjacent structures and overall disease burden. Their diverse cellular composition and interactions within the tumor microenvironment underscore the complexity of their development and progression in neurofibromatosis type 1. In addition to mutations in the neurofibromatosis type 1 gene itself, other modifier genes can influence the severity and progression of neurofibromatosis type 1-associated plexiform neurofibromas. These include Runx1, ANRIL, SUZ12, and ATM. An associated condition, NF1-PN, is a subtype of neurofibromas that can present more complex and serious symptoms.

Neurofibromatosis Type 1-associated Plexiform Neurofibromas Diagnosis

Neurofibromatosis type 1 is often identified in early childhood neurofibromatosis type 1 with plexiform neurofibromas or adulthood cutaneous neurofibroma, usually through visible signs such as café-au-lait spots or subtle tissue overgrowth. However, deeply situated plexiform neurofibromas can remain undetected until symptoms like pain emerge, requiring imaging for diagnosis. These tumors are complex, infiltrating surrounding tissues and posing challenges due to their irregular shapes and over vascularization. Plexiform neurofibromas often develop in critical areas, including the head, neck, chest, or spine, complicating surgical treatment and increasing risks such as bleeding. Diagnosis requires vigilance for early signs, timely imaging, and specialist input. 

Further details related to diagnosis will be provided in the report…

Neurofibromatosis Type 1-associated Plexiform Neurofibromas Epidemiology

The neurofibromatosis type 1-associated plexiform neurofibromas epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the total diagnosed prevalent cases of neurofibromatosis type 1, total diagnosed prevalent cases of neurofibromatosis type 1 manifestations, age-specific diagnosed prevalent cases of neurofibromatosis type 1-associated plexiform neurofibromas, total neurofibromatosis type 1-associated plexiform neurofibromas cases by clinical symptoms, and total neurofibromatosis type 1-associated plexiform neurofibromas cases eligible to surgery in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034. 

• Among the 7MM, the US accounted for the highest number of cases in 2024, with around 97,950 diagnosed prevalent cases of neurofibromatosis type 1. These cases are expected to increase during the forecast period.
• In 2024, the total diagnosed prevalent cases of neurofibromatosis type 1-associated plexiform neurofibromas were around 39,190 in the US.
• Among EU4 and the UK, the highest number of cases of neurofibromatosis type 1 with plexiform neurofibromas was found in Germany whereas the UK accounted for the lowest cases in 2024.
• In the US, neurofibromatosis type 1-associated plexiform neurofibromas cases included approximately 11,760 pediatric population and ~27,430 adults in 2024.
• In the US, there were ~12,960 operable cases and ~9,260 inoperable cases of neurofibromatosis type 1-associated plexiform neurofibromas in 2024. 
• In 2024, the majority of neurofibromatosis type 1 cases associated plexiform neurofibromas were symptomatic (22,220), while the least cases were found in asymptomatic individuals in the US.

Neurofibromatosis Type 1-associated Plexiform Neurofibromas Report Insights

• Patient Population
• Country-wise Epidemiology Distribution

Neurofibromatosis Type 1-associated Plexiform Neurofibromas Report Key Strengths

• Ten Years Forecast
• 7MM Coverage 
• Neurofibromatosis Type 1-associated Plexiform Neurofibromas Epidemiology Segmentation

FAQs

• What are the disease risks, burdens, and unmet needs of neurofibromatosis type 1-associated plexiform neurofibromas? What will be the growth opportunities across the 7MM concerning the patient population with neurofibromatosis type 1-associated plexiform neurofibromas?
• What is the historical and forecasted neurofibromatosis type 1-associated plexiform neurofibromas patient pool in the US, EU4 (Germany, France, Italy, and Spain) the UK, and Japan?

Reasons to Buy

• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.