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Chemotherapy in Schwannomatosis: Justified Strategy or Deviation From Surgical Standard of Care? [PDF]

Clinical Case Reports
Although schwannomatosis is a benign peripheral nerve sheath disorder, management decisions become challenging in recurrent diffuse disease. Before systemic chemotherapy is initiated, careful distinction between benign schwannomatosis and malignant ...
Muhammad Abdullah Awan
doaj   +3 more sources

A Rare Case of Diffuse Extra‐Cranial Schwannomatosis of the Trunk and Limbs [PDF]

Clinical Case Reports
Schwannomas are benign peripheral nerve sheath tumors (PNSTs) arising from myelin sheaths, with schwannomatosis characterized by multiple lesions without neurofibromatosis type 1 (NF1) or type 2 (NF2) stigmata.
Bernadette Pedun, Ivaan Pitua, Felix Bongomin, Samuel Bugeza, Alex Bakenga, Valeria Nabbosa   +5 more
doaj   +3 more sources

Deciphering and Targeting the Schwannoma‐Neuron‐Macrophage Crosstalk for the Treatment of Schwannomatosis and Associated Pain [PDF]

Advanced Science
Non‐NF2 Schwannomatosis (SWN) is a genetic disorder characterized by multiple non‐malignant schwannomas growing on the spine and peripheral nerves. Patients with SWN overwhelmingly present with intractable chronic pain. There are no FDA‐approved drugs to
Zhenzhen Yin, Limeng Wu, Yanling Zhang, Yao Sun, Grace Y. Lee, Simeng Lu, Xing Gao, John W. Chen, Sonu Subudhi, William Ho, Chao Zhu, Jun Ren, Gino B. Ferraro, Alona Muzikansky, Anat Stemmer‐Rachamimov, Jianren Mao, Scott R. Plotkin, Lei Xu   +17 more
doaj   +3 more sources

Imaging and pathology correlation in schwannomatosis: insights from a case series [PDF]

BMC Medical Imaging
Background Schwannomatosis is a rare tumor syndrome characterized by multiple peripheral schwannomas. The correlation between imaging features and pathological subtypes remains underexplored.
Li-xue Wu, Cheng-wei Kang
doaj   +2 more sources

Quality of life assessment in schwannomatosis – A systematic review [PDF]

Brain and Spine
Introduction: The term schwannomatosis refers to rare genetic disorders characterized by the development of multiple tumors within the central and/or peripheral nervous system.
Anna C. Lawson McLean, Steffen K. Rosahl, Aaron Lawson McLean, Pascal Fehringer, Anna Freier, Denise Löschner, Marcel A. Kamp, Christian Senft, Andreas K. Demetriades   +8 more
doaj   +2 more sources

Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions

Oncology and Therapy
Neurofibromatosis type 2 (NF2)-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The hallmarks of NF2-related schwannomatosis are bilateral vestibular schwannomas (VS).
Pinan Liu
exaly   +2 more sources

Multiple Schwannomas of the Sciatic Nerve: A Case Report and Literature Review [PDF]

Clinical Case Reports
Schwannomas are common benign tumors originating from the nerve sheath. Sciatic nerve involvement is rare. This case report describes an unusual presentation of multiple schwannomas affecting the sciatic nerve with no history of neurofibromatosis.
Ahmed Siddig Elhadi, Hassan Elbahri, Bashar Elgaali, Hassan M. Ahmed, Yathreb Babakr   +4 more
doaj   +2 more sources

Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis [PDF]

PAIN Reports
. Introduction:. Pain is an often underestimated symptom in patients with neurofibromatosis (NF) and schwannomatosis (SWN), yet it may have a profound impact on health-related quality of life. Objective:. To assess the characteristics of neuropathic pain
Eva Meller, Annsophie Amann, Rayaz A. Malik, Daniel Kampik, Cordula Matthies, Nurcan Üçeyler   +5 more
doaj   +2 more sources

A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation

Medicina, 2022
Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF).
Jun Hyun Lee, Jae Seok Jeong, Kum Ju Chae, Yeon-Hee Han, So Ri Kim, Yong Chul Lee   +5 more
doaj   +1 more source

[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

Orphanet Journal of Rare Diseases, 2021
Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain.
I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot, P. Wolkenstein   +5 more
doaj   +1 more source