Primary melanocytic neoplasms of the central nervous system

Liubinas, Simon V.; Maartens, Nicholas F.; Drummond, Katharine J.

doi:10.1016/j.jocn.2010.01.017

Cited by 160 publications

(202 citation statements)

References 60 publications

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“…4 From 1972 to 2009, Ͻ60 cases of intraspinal MM were reported. 5 Here, we report 5 cases of intraspinal MM. To our knowledge, this study is the largest collection of intraspinal MM cases with MR imaging to date.…”

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confidence: 92%

MR Imaging Findings of the Intraspinal Meningeal Melanocytoma: Correlation with Histopathologic Findings

Hou

Sun

Zhang

et al. 2012

AJNR Am J Neuroradiol

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SUMMARY:Our aim was to better understand and improve the accuracy of the preoperative diagnosis of intraspinal MM by a combined analysis of MR imaging and pathologic findings. All 5 patients had undergone unenhanced and contrast-enhanced MR imaging examinations. All tumor samples had immunohistochemical reactions to HMB-45, vimentin, S-100, EMA, and Leu-7 antibodies. All 5 cases were located in the intradural extramedullary compartment. Two cases had multifocal lesions, and 3 cases were solitary. Two cases showed homogeneously strong enhancement, and 3 cases showed moderate enhancement on contrast-enhanced T1WI. The tumor cells had positive reactions to HMB-45, vimentin, and S-100 antibodies. MR imaging plays an important role in the detection and diagnosis of intraspinal MM. Final diagnosis should be based on histopathology and IHC examinations.ABBREVIATIONS: EMA ϭ epithelial membrane antigen; HMB-45 ϭ human melanoma black-45; IHC ϭ immunohistochemistry; MM ϭ meningeal melanocytoma P rimary melanocytic neoplasms of the CNS are lesions arising from melanocytes of the leptomeninges. Melanocytes are melanin-producing cells that derive from the neural crest during embryogenesis and then migrate to the skin, mucous membranes, and CNS.

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confidence: 92%

MR Imaging Findings of the Intraspinal Meningeal Melanocytoma: Correlation with Histopathologic Findings

Hou

Sun

Zhang

et al. 2012

AJNR Am J Neuroradiol

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“…3,11 According to the classification suggested by Brat et al, 2 melanocytic neoplasms are categorized histologically as melanocytomas, melanocytomas of intermediate grade, or melanomas exhibiting typical malignant features such as necrosis and high mitotic activity. Recent in-depth molecular characterization of melanocytomas revealed distinct mutational and chromosomal fingerprints separating melanocytomas from other melanotic tumors such as melanoma metastases or melanotic schwannomas.…”

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confidence: 99%

“…10 Although little is known about this tumor entity as only a few case reports have been published over the past few decades, the tumors mostly occur along the spine and the posterior fossa with a peak incidence around the 5th decade and a slight female predominance. 3,11 According to the classification suggested by Brat et al, 2 melanocytic neoplasms are categorized histologically as melanocytomas, melanocytomas of intermediate grade, or melanomas exhibiting typical malignant features such as necrosis and high mitotic activity. Recent in-depth molecular characterization of melanocytomas revealed distinct mutational and chromosomal fingerprints separating melanocytomas from other melanotic tumors such as melanoma metastases or melanotic schwannomas.…”

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confidence: 99%

The GNAQ in the haystack: intramedullary meningeal melanocytoma of intermediate grade at T9–10 in a 58-year-old woman

Hoffmann

Koelsche²,

Seiz-Rosenhagen³

et al. 2016

JNS

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M eningeal melanocytomas are extremely rare tumors originating from leptomeningeal melanocytes. The first reported description, in the early 1970s, was by Limas and Tio.10 Although little is known about this tumor entity as only a few case reports have been published over the past few decades, the tumors mostly occur along the spine and the posterior fossa with a peak incidence around the 5th decade and a slight female predominance. 3,11 According to the classification suggested by Brat et al., 2 melanocytic neoplasms are categorized histologically as melanocytomas, melanocytomas of intermediate grade, or melanomas exhibiting typical malignant features such as necrosis and high mitotic activity. Recent in-depth molecular characterization of melanocytomas revealed distinct mutational and chromosomal fingerprints separating melanocytomas from other melanotic tumors such as melanoma metastases or melanotic schwannomas. 6Treatment aims at the complete surgical removal of the tumor and postoperative adjuvant radiotherapy. case reportA 58-year-old woman presented with a history of progressive ataxia, progressive urinary and bowel incontinence, and weight loss of 6 kg over a period of 6-8 weeks. Neurological examination revealed a paraparesis of the lower extremities (M0/5 muscle strength grade of the right leg; M1-2/5, left leg) with paresthesia and hypesthesia starting from the T-10 dermatome downward.Her medical history included breast cancer diagnosed in 2008, which was treated with a lumpectomy, adjuvant chemotherapy (6 cycles of Taxotere, Adriamycin, and cyclophosphamide), and postoperative whole breast radiotherapy (including supraclavicular lymph nodes) with a total dose of 50.4 Gy and followed by a 16-Gy boost to the tumor bed.Upon admission, MRI of the spine revealed a 3.7-cm isodense/slightly hyperintense intramedullary lesion at T9-10. After administration of gadolinium, the lesion appeared hyperintense on T1-weighted images (Fig. 1A). T2-weighted images showed a myelopathy signal from T-7 to T-12. The differential diagnosis included ependymoma, astrocytoma, and intraspinal metastasis.The patient thus underwent a laminectomy at the T9-10 levels and a complete microsurgical resection of the intramedullary tumor under continuous neuromonitoring. The lesion was grayish-red and heavily vascularized with a macroscopic appearance that closely resembled an epen- Meningeal melanocytomas are rare tumors. They are derived from leptomeningeal melanocytes and predominantly occur along the spine and the posterior fossa. Here, the authors report a case of intramedullary melanocytoma of intermediate grade in a 58-year-old female patient who was initially misdiagnosed with malignant melanoma until mutational analyses of a panel of genes associated with melanotic tumors led to reclassification.

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“…Patients can present with intracranial hypertension, neurologic defi cits, subarachnoid hemorrhage, and seizures ( 7 ). Primary melanoma of the CNS in children occurs primarily in patients with neurocutaneous melanosis (NCM), a rare nonhereditary syndrome characterized by giant or multiple congenital melanocytic nevi (CMN; ref.…”

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confidence: 99%

“…Primary melanoma of the CNS in children occurs primarily in patients with neurocutaneous melanosis (NCM), a rare nonhereditary syndrome characterized by giant or multiple congenital melanocytic nevi (CMN; ref. 7 ). Although clinical data are limited, primary melanoma of the CNS in children has a poor prognosis.…”

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confidence: 99%

A Model for Primary Melanoma of the CNS Implicates NRAS

Ciarlo¹,

Zon²

2013

Cancer Discovery

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Summary :In this issue of Cancer Discovery , Pedersen and colleagues present the fi rst mouse model of primary CNS melanoma, which arises when oncogenic NRAS is expressed from the endogenous Nras promoter in melanocytes during embryogenesis. In support of this model, two pediatric cases of NRAS -mutant primary melanoma of the CNS are identifi ed. Cancer Discov; 3(4); 382-3. ©2013 AACR.See related article by Pedersen et al., p. 458 (6).Melanoma can be subdivided into categories based on body location, and some characteristic presentations are exceedingly rare. NRAS is the second most commonly mutated gene in cutaneous melanoma, the most prevalent form of the disease. After BRAF , which harbors an activating mutation in 40% to 50% of cutaneous melanomas, NRAS is mutated in approximately 20% of tumors ( 1, 2 ). Although a mouse model of melanoma driven by expression of BRAF V600E in the absence of other mutations has been developed, current NRAS-driven models rely on concomitant mutations in tumor suppressor genes ( 3-5 ). In this issue of Cancer Discovery , Pedersen and colleagues ( 6 ) show that melanocytic expression of activated NRAS results in melanoma of a quite unexpected type. Here, they present the fi rst model for pediatric primary melanoma of the central nervous system (CNS), a rare but deadly disease.Primary melanoma of the CNS originates from melanocytes of the leptomeninges. Patients can present with intracranial hypertension, neurologic defi cits, subarachnoid hemorrhage, and seizures ( 7 ). Primary melanoma of the CNS in children occurs primarily in patients with neurocutaneous melanosis (NCM), a rare nonhereditary syndrome characterized by giant or multiple congenital melanocytic nevi (CMN; ref. 7 ). Although clinical data are limited, primary melanoma of the CNS in children has a poor prognosis. One study identifi ed 5 children over the course of 13 years with primary melanoma of the leptomeninges, all of whom died within 8 months of initial presentation ( 8 ). By expressing oncogenic NRAS in mouse melanocytes during embryonic development, Pedersen and colleagues ( 6 ) were able to recapitulate the pathology of CNS melanoma, with particular relevance to pediatric cases.To develop an NRAS-driven model of melanoma, Pedersen and colleagues ( 6 ) expressed NRAS G12D at physiologic levels in a spatially and temporally controlled manner. They did this by inserting a loxP -STOP-loxP cassette followed by NRAS G12D ( Nras LSL-G12D ) into the endogenous Nras locus. Tamoxifenactivated Cre recombinase, expressed in melanocytes using the tyrosinase promoter, allowed for stop codon excision and expression of NRAS G12D at 2 months of age by painting the backs of mice with tamoxifen. For expression during embryogenesis, the authors used unmodifi ed Cre recombinase.Surprisingly, expression of NRAS G12D during embryogenesis resulted in primary melanoma of the CNS, manifesting in neurologic symptoms such as hyperreactivity and motor dysfunction at a median of 4 months of age in Nras LSL-G12D homozygous mice and 12.5...

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Primary melanocytic neoplasms of the central nervous system

Cited by 160 publications

References 60 publications

MR Imaging Findings of the Intraspinal Meningeal Melanocytoma: Correlation with Histopathologic Findings

MR Imaging Findings of the Intraspinal Meningeal Melanocytoma: Correlation with Histopathologic Findings

The GNAQ in the haystack: intramedullary meningeal melanocytoma of intermediate grade at T9–10 in a 58-year-old woman

A Model for Primary Melanoma of the CNS Implicates NRAS

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