Primary Melanoma of the Spinal Cord: A Case Report, Molecular Footprint, and Review of the Literature

Fuld, Alexander; Speck, Maren E.; Harris, Brent T.; Simmons, Nathan E.; Corless, Christopher L.; Tsongalis, Gregory J.; Pastel, David A.; Hartford, Alan C.; Ernstoff, Marc S.

doi:10.1200/jco.2010.34.0695

Cited by 27 publications

(29 citation statements)

References 24 publications

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“…2012, GNAQ and GNA11 mutations were reported for the first time to occur in LMNs (77,96). Oncogenic mutations in these genes are found in benign as well as malignant LMNs and have up to now only been reported in adult patients with circumscribed tumors, except for a 15-year-old boy with a GNA11-mutated melanocytoma in the series of Koelsche et al (28,44,45,71,75,77,96,126). Like in uveal melanomas, activating mutations in GNAQ and GNA11 in LMNs mainly affect codon 209 and consist of substitution of glutamine to leucine [c.626 A>T (p.(Gln209Leu))] or, less frequently, by substitution to proline [c.626 A>C (p.(Gln209Pro))] (45,71,75,77).…”

Section: High Frequency Of Gnaq and Gna11 Mutationsmentioning

confidence: 95%

Primary Melanocytic Tumors of the Central Nervous System: a Review with Focus on Molecular Aspects

Küsters‐Vandevelde

Küsters

Grunsven³

et al. 2015

Brain Pathology

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Primary melanocytic tumors of the central nervous system (CNS) represent a spectrum of rare tumors. They can be benign or malignant and occur in adults as well as in children, the latter often in the context of neurocutaneous melanosis. Until recently, the genetic alterations in these tumors were largely unknown. This is in contrast with cutaneous and uveal melanomas, which are known to harbor distinct oncogenic mutations that can be used as targets for treatment with small-molecule inhibitors in the advanced setting. Recently, novel insights in the molecular alterations underlying primary melanocytic tumors of the CNS were obtained, including different oncogenic mutations in tumors in adult patients (especially GNAQ, GNA11) vs. children (especially NRAS). In this review, the focus is on molecular characteristics of primary melanocytic tumors of the CNS. We summarize what is known about their genetic alterations and discuss implications for pathogenesis and differential diagnosis with other pigmented tumors in or around the CNS. Finally, new therapeutic options with targeted therapy are discussed.

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Section: High Frequency Of Gnaq and Gna11 Mutationsmentioning

confidence: 95%

Primary Melanocytic Tumors of the Central Nervous System: a Review with Focus on Molecular Aspects

Küsters‐Vandevelde

Küsters

Grunsven³

et al. 2015

Brain Pathology

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“…Primary spinal melanoma is most frequently encountered at the thoracic region, as reported by Fuld et al [2], and more than half of the cases were observed in this area.…”

Section: Discussionmentioning

confidence: 89%

“…Although most melanomas arise from the skin primarily, noncutaneous sites, such as gastrointestinal system and ocular locations, were also reported [2]. Among all, spinal cord melanomas are rare tumors and are believed to originate from leptomeningeal melanoblasts, which are derived from the neural crest during early embryonic development [3].…”

Section: Discussionmentioning

confidence: 99%

An Uncommon Intramedullary Tumor: Primary Spinal Cord Melanoma

et al. 2014

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A 47-year-old woman was admitted with complaints of progressive weakness in the lower extremities and pain in the back and left leg. Thoracic magnetic resonance imaging (MRI) revealed a spinal intramedullary tumor between the T9 and L1 levels, which were iso- to hypointense on T2 and slightly hyperintense on T1-weighted images. The tumor was resected as total, and the diagnosis was malignant melanoma confirmed with histopathology. Neurological findings improved at the postoperative period and no residual or recurrence was noted on postoperative MRI at the 9-month follow-up. Primary melanoma of the spinal cord, particularly intramedullar localization, is seldomly reported in the literature. We report a primary malignant melanoma of the spinal cord and emphasize the diagnostic and prognostic challenges.

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“…Malignant melanoma typically presents with individual cells of small clusters with blue granular cytoplasm, nuclei with euchromatic chromatin and rare intranuclear inclusions. Immunohistochemistry test are typically positive for Human Melanoma Black (HMB) 45, S100 and Tyrosinase as in our patient [3].…”

Section: Discussionmentioning

confidence: 99%

Primary Malignant Melanoma of the Lumbar Spine

Ali¹

2017

Austin J Orthopade & Rheumatol

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Low Back Pain (LBP) or Lumbago is a leading cause of disability in the United States. There are several etiologies including but not limited to muscle strains, discherniation, vertebral instability and fractures. Most serious however are metastatic neoplastic processes, which invade the spine, spinal cord, and nerve roots potentially causing significant neurologic and functional compromise. Primary tumors of the spine are extremely rare, even rarer are primary melanomas of the spine [1]. We present a rare case of a 55-year-old male that was admitted with unrelenting back pain and inability to ambulate. Imaging shows pathologic L3 vertebral body compression fracture, biopsy confirmed malignant melanoma. Clinical examinations from dermatology, gastroenterology, ophthalmology, and oncology confirmed that there were no primary sources of the malignancy identified resulting in the spinal lesion being the only source and location of the tumor [1]. The patient's radicular symptoms and function improved post-operatively, patient was informed that data of his case will be submitted for publication. However, he later succumbed to a myocardial infarction two years later.

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Primary Melanoma of the Spinal Cord: A Case Report, Molecular Footprint, and Review of the Literature

Cited by 27 publications

References 24 publications

Primary Melanocytic Tumors of the Central Nervous System: a Review with Focus on Molecular Aspects

Primary Melanocytic Tumors of the Central Nervous System: a Review with Focus on Molecular Aspects

An Uncommon Intramedullary Tumor: Primary Spinal Cord Melanoma

Primary Malignant Melanoma of the Lumbar Spine

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