scholarly journals A Case Report of a Malignant Peripheral Nerve Sheath Tumor of the Oral Cavity in Neurofibromatosis Type 1

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Özmen Öztürk ◽  
Alper Tutkun
Keyword(s):  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Rapid Change ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Adjacent Structures

Patients with neurofibromatosis type 1 develop both benign and malignant tumors at an increased frequency. Most of the malignant peripheral nerve sheath tumors (MPNSTs) are considered as high-grade sarcomas originating from tissues of mesenchymal origin. It is generally accepted that MPNSTs occur in about 2% to 5% of neurofibromatosis patients. In this paper, we present a 16-year-old male patient with neurofibromatosis who developed MPNST of the retromolar area. The mass enlarged rapidly in a period of 6 weeks. The patient was treated surgically, and a tumor mass with a diameter of  cm was excised, but after 8 months a recurrence was observed at the same site. The sarcomatous change in a neurofibroma has an extremely poor prognosis, so patients with neurofibromatosis should be closely monitored for a possible malignancy. A rapid change in size of a preexisting neurofibroma, infiltration of the adjacent structures, intralesional hemorrhage, and pain indicate a possible malignant transformation to MPNST.

scholarly journals Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1

2017 ◽  
Vol 75 (6) ◽  
pp. 366-371 ◽  
Author(s):  
Roberto André Torres de Vasconcelos ◽  
Pedro Guimarães Coscarelli ◽  
Regina Papais Alvarenga ◽  
Marcus André Acioly
Keyword(s):  
Overall Survival ◽  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Tumor Size ◽  
Retrospective Chart Review ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

ABSTRACT Objective In this study, we review the institution’s experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1). Methods Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. A retrospective chart review was performed. The median age was 43.5 years (range, 3–84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors. Results Mean tumor sizes were 15.8 ± 8.2 cm and 10.8 ± 6.3 cm for patients with and without NF1, respectively. Combined two- and five-year overall survival was 48.5% and 29%. Multivariate analysis confirmed the association of tumor size greater than 10 cm (hazard ratio (HR) 2.99; 95% confidence interval (CI) 1.14–7.85; p = 0.0258) and presence of NF1 (HR 3.41; 95%CI 1.88–6.19; p < 0.001) with a decreased overall survival. Conclusion Tumor size and NF1 status were the most important predictors of overall survival in our population.

scholarly journals Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Marija Milković Periša ◽  
Tihana Džombeta ◽  
Jasminka Stepan Giljević ◽  
Božo Krušlin
Keyword(s):  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Young Patients ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Nerve Sheath ◽  
The Right

Benign and malignant tumors are common in the setting of neurofibromatosis type 1 (NF1). Malignant peripheral nerve sheath tumor (MPNST) and angiosarcoma are rare tumors in children and adolescents and mostly occur in young patients in relation to NF1. Both histological types can be present in the same tumor mass in patients with NF1. We present a case of 12.5-year-old girl with NF1 who first presented with MPNST of the right inguinal region and 1.5 years later with unrelated angiosarcoma of the scalp.

scholarly journals Malignant Triton Tumors in Sisters with Clinical Neurofibromatosis Type 1

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Basnet Alina ◽  
Jofre A. Sebastian ◽  
Capo Gerardo
Keyword(s):  
Peripheral Nerve ◽  
Chest Wall ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
High Grade ◽  
Peripheral Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

Malignant triton tumors (MTTs) are rare and aggressive sarcomas categorized as a subgroup of malignant peripheral nerve sheath tumors (MPNSTs). MTTs arise from Schwann cells of peripheral nerves or existing neurofibromas and have elements of rhabdomyoblastic differentiation. We report the occurrence of MTTs in two sisters. The first patient is a 36-year-old female who presented with left sided chest wall swelling. She also had clinical features consistent with neurofibromatosis type 1 (NF-1). Debulking of the mass showed high-grade malignant peripheral nerve sheath tumor with skeletal muscle differentiation (MTT). The patient was treated with ifosfamide and adriamycin along with radiation. Four years after treatment, she still has no evidence of disease recurrence. Her sister subsequently presented to us at the age of 42 with left sided lateral chest wall pain. Imaging showed a multicompartmental retroperitoneal cystic mass with left psoas involvement. The tumor was resected and, similarly to her sister, it showed high-grade malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation (MTT). The patient was started on chemotherapy and radiation as described above.

Malignant Peripheral Nerve Sheath Tumor Arising from a Solitary Neurofibroma in a Patient without Neurofibromatosis Type 1

2016 ◽  
Vol 78 (5) ◽  
pp. 516-521
Author(s):  
Fumihisa SAWADA ◽  
Eiichi MAKINO ◽  
Takenobu YAMAMOTO ◽  
Ryo TANAKA ◽  
Yutaka FUJIWARA ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Nerve Sheath ◽  
Solitary Neurofibroma

Primary malignant peripheral nerve sheath tumor of the lung in a young child without neurofibromatosis type 1

2006 ◽  
Vol 47 (5) ◽  
pp. 636-638 ◽  
Author(s):  
Samar A. Muwakkit ◽  
Carlos Rodriguez-Galindo ◽  
Ahmad I. EL Samra ◽  
Ruby Khoury ◽  
Samir R. Akel ◽  
...  
Keyword(s):  
Young Child ◽  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Nerve Sheath

Intracerebral malignant peripheral nerve sheath tumor in a child with neurofibromatosis Type 1 and middle cerebral artery aneurysm treated with endovascular coil embolization

2011 ◽  
Vol 8 (4) ◽  
pp. 346-352 ◽  
Author(s):  
Michael J. Ellis ◽  
Samuel Cheshier ◽  
Sunjay Sharma ◽  
Derek Armstrong ◽  
Cynthia Hawkins ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Middle Cerebral Artery ◽  
Cerebral Artery ◽  
Neurofibromatosis Type 1 ◽  
Coil Embolization ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Nerve Sheath ◽  
Endovascular Coil Embolization

Among the neoplastic conditions that affect patients with neurofibromatosis Type 1 (NF1) are malignant peripheral nerve sheath tumors (MPNSTs), which typically arise from peripheral nerves of the limbs, trunk, and lumbar and brachial plexuses. Ionizing radiation is an established risk factor for MPNST development, especially in susceptible patients such as those with NF1. Patients with NF1 are also at risk for intracranial aneurysms, which are increasingly being successfully managed with endovascular therapies. The authors describe the case of a 9-year-old, previously healthy girl who presented in extremis with a right frontal intracerebral hemorrhage resulting from a ruptured right middle cerebral artery (MCA) trifurcation aneurysm. Following urgent decompressive craniectomy, the patient underwent endovascular coil embolization of the MCA aneurysm without complication. Given her mother's history of NF1, the child underwent genetic testing, which disclosed signs positive for NF1. The patient recovered well, but follow-up MR imaging and MR angiography performed at 14 months demonstrated a large frontotemporal mass encasing the right MCA trifurcation. The patient underwent frontotemporal craniotomy and subtotal resection of the mass, which was histologically found to be an intracranial MPNST. The patient received chemotherapy and focal radiation therapy and remains alive at 6 months postresection. To the authors' knowledge, this represents the only known case of intracranial neoplasm arising in the region of an intracranial aneurysm repaired by endovascular coil embolization. While patients with NF1 represent a population with genetic susceptibility to radiation-induced tumors, the pathogenesis of intracerebral MPNSTs remains poorly understood.

scholarly journals New Model Systems and the Development of Targeted Therapies for the Treatment of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 477 ◽  
Author(s):  
Kyle B. Williams ◽  
David A. Largaespada
Keyword(s):  
Schwann Cell ◽  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Single Agent ◽  
Neurofibromatosis Type ◽  
Mek Inhibitors ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

Neurofibromatosis Type 1 (NF1) is a common genetic disorder and cancer predisposition syndrome (1:3000 births) caused by mutations in the tumor suppressor gene NF1. NF1 encodes neurofibromin, a negative regulator of the Ras signaling pathway. Individuals with NF1 often develop benign tumors of the peripheral nervous system (neurofibromas), originating from the Schwann cell linage, some of which progress further to malignant peripheral nerve sheath tumors (MPNSTs). Treatment options for neurofibromas and MPNSTs are extremely limited, relying largely on surgical resection and cytotoxic chemotherapy. Identification of novel therapeutic targets in both benign neurofibromas and MPNSTs is critical for improved patient outcomes and quality of life. Recent clinical trials conducted in patients with NF1 for the treatment of symptomatic plexiform neurofibromas using inhibitors of the mitogen-activated protein kinase (MEK) have shown very promising results. However, MEK inhibitors do not work in all patients and have significant side effects. In addition, preliminary evidence suggests single agent use of MEK inhibitors for MPNST treatment will fail. Here, we describe the preclinical efforts that led to the identification of MEK inhibitors as promising therapeutics for the treatment of NF1-related neoplasia and possible reasons they lack single agent efficacy in the treatment of MPNSTs. In addition, we describe work to find targets other than MEK for treatment of MPNST. These have come from studies of RAS biochemistry, in vitro drug screening, forward genetic screens for Schwann cell tumors, and synthetic lethal screens in cells with oncogenic RAS gene mutations. Lastly, we discuss new approaches to exploit drug screening and synthetic lethality with NF1 loss of function mutations in human Schwann cells using CRISPR/Cas9 technology.

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