Primary meningeal melanoma masquerading as neurofibromatosis type 2: illustrative case

BACKGROUND Primary meningeal melanocytic neoplasms are exceedingly rare tumors, representing only 0.06% to 0.1% of all primary brain tumors and ranging in spectrum from benign localized tumors to highly aggressive malignant lesions. The diagnosis of these tumors is often challenging from clinical, radiological, and pathologic standpoints. Equally challenging is the distinction between primary meningeal melanocytic neoplasm and metastatic melanoma. OBSERVATIONS The authors reported the case of a 41-year-old man with imaging findings diagnostic of neurofibromatosis type 2: bilateral internal auditory canal lesions (most consistent with bilateral vestibular schwannomas), two dura-based lesions presumed to be meningiomas, multiple spinal lesions consistent with peripheral nerve sheath tumors, and one intramedullary spinal lesion consistent with an ependymoma. Biopsy of these lesions revealed melanocytic neoplasms with mild to moderate atypia and a mildly elevated proliferation index, which made the distinction between benign and malignant challenging. In addition, the disseminated nature of these tumors made it difficult to determinate whether they arose from the meninges or represented metastases from an occult primary melanoma. LESSONS This case illustrated the challenges presented by the diagnosis of meningeal melanocytic neoplasms and highlighted the importance of integrating the clinical and radiographic findings with histologic appearance and molecular studies.

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Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis Type 2

Journal of Neurosurgery ◽

10.3171/2009.6.jns09105 ◽

2010 ◽

Vol 112 (1) ◽

pp. 81-87 ◽

Cited By ~ 29

Author(s):

Matthew L. Carlson ◽

Dusica Babovic-Vuksanovic ◽

Ludwine Messiaen ◽

Bernd W. Scheithauer ◽

Brian A. Neff ◽

...

Keyword(s):

Tumor Suppressor ◽

Stereotactic Radiosurgery ◽

Tumor Suppressor Gene ◽

Neurofibromatosis Type ◽

Suppressor Gene ◽

Neurofibromatosis Type 2 ◽

Benign Tumors ◽

Autosomal Dominant Disorder ◽

Peripheral Nerve Sheath Tumors

Neurofibromatosis Type 2 (NF2) is a rare autosomal dominant disorder characterized by the development of benign tumors of the peripheral nervous system and the CNS, including schwannomas, meningiomas, and ependymomas. The gene responsible for the development of NF2 acts as a tumor suppressor gene. Stereotactic radiotherapy (SRT) or single-fraction stereotactic radiosurgery has been increasingly used in the past decades to treat benign tumors in patients with NF2. These radiotherapy methods are less invasive and can be potentially used to treat multiple tumors in a single session. The risk of inducing malignancy is unclear. Few reports exist of malignant peripheral nerve sheath tumors, meningiomas, or ependymomas occurring after SRT or stereotactic radiosurgery in patients with NF2. The authors present the first documented case of rhabdomyosarcoma following SRT for multiple NF2-associated schwannomas. Compared with patients with sporadic tumors, NF2 patients having a germline tumor suppressor gene defect may be more prone to secondary malignancies after treatment involving radiation therapy.

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Internal Auditory Canal Decompression for Hearing Maintenance in Neurofibromatosis Type 2 Patients

Neurosurgery ◽

10.1227/neu.0000000000001125 ◽

2015 ◽

Vol 79 (3) ◽

pp. 370-377 ◽

Cited By ~ 7

Author(s):

Daniele Bernardeschi ◽

Matthieu Peyre ◽

Michael Collin ◽

Mustapha Smail ◽

Olivier Sterkers ◽

...

Keyword(s):

Hearing Loss ◽

Internal Auditory Canal ◽

Neurofibromatosis Type ◽

Early Postoperative Period ◽

Neurofibromatosis Type 2 ◽

Hearing Level ◽

Speech Discrimination ◽

Unilateral Deafness

Abstract BACKGROUND: In neurofibromatosis type 2 (NF2), multiple therapeutic options are available to prevent bilateral hearing loss that significantly affects the quality of life of patients. OBJECTIVE: To evaluate the morbidity and functional results of internal auditory canal (IAC) decompression in NF2 patients with an only hearing ear. METHODS: Twenty-one NF2 patients operated on for IAC decompression in a 3-year period with a minimum follow-up of 1 year were included in this retrospective study. They presented unilateral deafness due to previous contralateral vestibular schwannoma removal in 16 patients or contralateral hearing loss due to the tumor in 5 patients. Hearing level was of class A (American Academy of Otolaryngology-Head and Neck Surgery classification) in 7 patients, B in 8 patients, C in 1 patient, and D in 5 patients. Pure-tone average and speech discrimination score evaluations were performed at 6 days, 1 year, and during the follow-up. Eight patients had postoperative chemotherapy. RESULTS: No case of facial nerve palsy was observed. In the early postoperative period; all patients maintained the hearing class of the preoperative period. At 1-year follow-up, all but 3 patients maintained their hearing scores; at last follow-up (mean follow-up, 23 + 8 months; range, 12-44 months), hearing classes remained stable with only 1 patient worsening from class B to C and 1 patient improving from class D to B. CONCLUSION: Decompression of IAC seems to be a useful procedure for hearing maintenance in NF2 patients, with very low morbidity. Ideal timing and association with chemotherapy should be evaluated in the future.

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Peripheral nerve sheath tumors in Neurofibromatosis Type 2: Surgical and histopathologic features

Clinical Neurology and Neurosurgery ◽

10.1016/j.clineuro.2019.105649 ◽

2020 ◽

Vol 190 ◽

pp. 105649 ◽

Cited By ~ 3

Author(s):

Gautam U. Mehta ◽

Hien Huynh ◽

Gregory P. Lekovic

Keyword(s):

Peripheral Nerve ◽

Neurofibromatosis Type ◽

Neurofibromatosis Type 2 ◽

Nerve Sheath Tumors ◽

Peripheral Nerve Sheath Tumors ◽

Nerve Sheath ◽

Histopathologic Features

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Targeted Therapies for the Neurofibromatoses

Cancers ◽

10.3390/cancers13236032 ◽

2021 ◽

Vol 13 (23) ◽

pp. 6032

Author(s):

Lauren D. Sanchez ◽

Ashley Bui ◽

Laura J. Klesse

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Neurofibromatosis Type 2 ◽

Nerve Sheath Tumors ◽

Peripheral Nerve Sheath Tumors ◽

The Past ◽

Therapeutic Trials ◽

Nerve Sheath

Over the past several years, management of the tumors associated with the neurofibromatoses has been recognized to often require approaches that are distinct from their spontaneous counterparts. Focus has shifted to therapy aimed at minimizing symptoms given the risks of persistent, multiple tumors and new tumor growth. In this review, we will highlight the translation of preclinical data to therapeutic trials for patients with neurofibromatosis, particularly neurofibromatosis type 1 and neurofibromatosis type 2. Successful inhibition of MEK for patients with neurofibromatosis type 1 and progressive optic pathway gliomas or plexiform neurofibromas has been a significant advancement in patient care. Similar success for the malignant NF1 tumors, such as high-grade gliomas and malignant peripheral nerve sheath tumors, has not yet been achieved; nor has significant progress been made for patients with either neurofibromatosis type 2 or schwannomatosis, although efforts are ongoing.

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Surgery versus stereotactic radiosurgery for the treatment of multiple meningiomas in neurofibromatosis type 2: illustrative case and systematic review

Neurosurgical Review ◽

10.1007/s10143-017-0904-2 ◽

2017 ◽

Vol 42 (1) ◽

pp. 85-96 ◽

Cited By ~ 3

Author(s):

Thien Nguyen ◽

Lawrance K. Chung ◽

John P. Sheppard ◽

Nikhilesh S. Bhatt ◽

Cheng Hao Jacky Chen ◽

...

Keyword(s):

Systematic Review ◽

Stereotactic Radiosurgery ◽

Neurofibromatosis Type ◽

Neurofibromatosis Type 2 ◽

Illustrative Case ◽

Multiple Meningiomas

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Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient

Neurosurgery ◽

10.1093/neuros/nyx368 ◽

2017 ◽

Vol 83 (1) ◽

pp. 38-42 ◽

Cited By ~ 9

Author(s):

Andrew T King ◽

Scott A Rutherford ◽

Charlotte Hammerbeck-Ward ◽

Simon K Lloyd ◽

Simon R Freeman ◽

...

Keyword(s):

Peripheral Nerve ◽

Vestibular Schwannoma ◽

Neurofibromatosis Type ◽

Neurofibromatosis Type 2 ◽

Nerve Sheath Tumors ◽

Peripheral Nerve Sheath Tumors ◽

Nerve Sheath ◽

Increased Risk

Abstract BACKGROUND The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant. OBJECTIVE To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. METHODS The prospective database consists of 1253 patients with NF2. One thousand and nine are known to be alive at last follow-up. The presence and laterality/pathology of vestibular schwannoma at diagnosis and last follow-up was sought. RESULTS There were no cases of spontaneous MPNST with 2114 proven (n = 1150) and presumed benign (n = 964) vestibular schwannomas found. Two patients had developed MPNST (1 presumed) after having previously undergone stereotactic radiosurgery for a vestibular schwannoma. CONCLUSION In this series, and from the literature, malignant transformation of a vestibular schwannoma was not a feature of NF2 in the unirradiated patient. NF2 patients should not be told that they have an increased risk of malignant change in a vestibular schwannoma unless they undergo radiation treatment. However, very much larger datasets are required before it can be determined whether there is any association between NF2 and MPNST in the unirradiated patient.

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Hearing Response Following Internal Auditory Canal Decompression in Neurofibromatosis Type 2

Neurosurgery ◽

10.1093/neuros/nyz057 ◽

2019 ◽

Vol 85 (3) ◽

pp. E560-E567

Author(s):

Nicolas-Xavier Bonne ◽

Michaël Risoud ◽

Michael Hoa ◽

Pierre-Emmanuel Lemesre ◽

Rabih Aboukais ◽

...

Keyword(s):

Internal Auditory Canal ◽

Retrospective Chart Review ◽

Neurofibromatosis Type ◽

Auditory Brainstem ◽

Neurofibromatosis Type 2 ◽

Vestibular Schwannomas ◽

Auditory Brainstem Responses ◽

First Year ◽

Speech Discrimination

AbstractBACKGROUNDHearing response following an osteodural decompression of the internal auditory canal (IAC) is controversial.OBJECTIVETo evaluate the course of auditory brainstem responses (ABRs) and the early hearing response during the first year following IAC decompression for small to medium-sized vestibular schwannomas occurring in neurofibromatosis type 2 (NF2).METHODSRetrospective chart review of middle fossa craniotomy for IAC osteodural decompression in NF2-related vestibular schwannomas.RESULTSTwelve NF2 patients were operated on from 2011 to 2016 for IAC decompression. All had NF2 according to the Manchester criteria. All had a progressive change of their ABRs documented from the diagnosis of NF2 over a mean period of 6.25 [0.36;10.9] yr. Treatment was proposed to stop hearing progression based on the speech discrimination scores (SDSs; n = 4) or for hearing maintenance (n = 8). In patients with prior hearing progression, hearing responses were observed in 3 of the 4 patients during the first year. One patient kept on progressing. In the hearing maintenance group, the SDSs remained stable. SDSs improved from 85% [20-100] to 92.5% [60-100] on average (n = 12) and from 55% [20-80] to 77.5% [50-100] in the hearing progression group (n = 4). ABRs improved in 4 patients following decompression.CONCLUSIONIAC decompression allows early objective hearing responses in select patients. We suggest that the procedure should be offered to patients with hearing progression based on their SDSs and/or associated progressive increases in their wave III and V latencies on ABRs.

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Oral plexiform schwannoma: A case report and relevant immunohistochemical investigation

SAGE Open Medical Case Reports ◽

10.1177/2050313x19838184 ◽

2019 ◽

Vol 7 ◽

pp. 2050313X1983818 ◽

Cited By ~ 1

Author(s):

Johan Sergheraert ◽

Dominique Zachar ◽

Vincent Furon ◽

Roman-Hossein Khonsari ◽

Nicolas Ortonne ◽

...

Keyword(s):

Peripheral Nerve ◽

Plexiform Neurofibroma ◽

Brain Magnetic Resonance Imaging ◽

Neurofibromatosis Type ◽

Neurofibromatosis Type 2 ◽

Plexiform Schwannoma ◽

Nerve Sheath Tumors ◽

Peripheral Nerve Sheath Tumors ◽

Nerve Sheath

Schwannomas are benign peripheral nerve sheath tumors originating from the Schwann cells. Most schwannomas in the head and neck region are solitary; however, multiple schwannomas affecting one or more nerves suggest a possible association with neurofibromatosis type 2 and schwannomatosis. Plexiform schwannoma is a rare variant of conventional schwannoma that is characterized by intraneural multinodular growth. This grow pattern has also been observed with other neural tumors which may make diagnosis more difficult. Herein, we report the case of a 28-year-old woman who presented a solitary plexiform schwannoma of great palatine nerve. In the present case, we focused on immunohistochemical analysis in daily practice for the differential diagnosis of schwannomas and their mainly morphological mimics, especially with plexiform neurofibroma, granular cell tumor and malignant peripheral nerve sheath tumors. We also discussed on SMARBC1/IN1 marker usefulness in combination with brain magnetic resonance imaging for the distinction of solitary schwannoma from neurofibromatosis type 2 or schwannomatosis.

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