Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI

Kinsler, Veronica A.; Paine, Simon; Anderson, Glenn; Wijesekara, D. Saraji; Sebire, Neil J.; Chong, W.K.; Harkness, William; Aylett, Sarah; Jacques, Thomas S.

doi:10.1007/s00401-012-0945-0

Cited by 26 publications

(11 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This rare, congenital neurocutaneous syndrome is characterized by the presence of large and/or multiple congenital melanocytic nevi (CMN) of the skin in association with primary melanotic lesions of the CNS. The latter include melanin depositions in the brain parenchyma (visible on T1-weighted MRI) and/or a benign or malignant, primary LMN (65,69). NCM shows no clear pattern of inheritance.…”

Section: Melanocytosismentioning

confidence: 99%

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

Küsters‐Vandevelde

Küsters

Grunsven³

et al. 2015

Brain Pathology

View full text Add to dashboard Cite

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.

show abstract

Section: Melanocytosismentioning

confidence: 99%

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

Küsters‐Vandevelde

Küsters

Grunsven³

et al. 2015

Brain Pathology

View full text Add to dashboard Cite

show abstract

“…Although this can occur in the context of malignant disease, several histopathological studies have proven the presence of congenital melanotic parenchymal deposits without involvement of the overlying meninges. The melanin in these lesions is produced within neurons and glia rather than melanocytes, and there are subtle signs of focal cortical dysplasia within these lesions …”

mentioning

confidence: 99%

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome

et al. 2015

View full text Add to dashboard Cite

SummaryBackgroundThe spectrum of central nervous system (CNS) abnormalities described in association with congenital melanocytic naevi (CMN) includes congenital, acquired, melanotic and nonmelanotic pathology. Historically, symptomatic CNS abnormalities were considered to carry a poor prognosis, although studies from large centres have suggested a much wider variation in outcome.ObjectivesTo establish whether routine MRI of the CNS is a clinically relevant investigation in children with multiple CMN (more than one at birth), and to subclassify radiological abnormalities.MethodsOf 376 patients seen between 1991 and 2013, 289 fulfilled our criterion for a single screening CNS MRI, which since 2008 has been more than one CMN at birth, independent of size and site of the largest naevus. Cutaneous phenotyping and radiological variables were combined in a multiple regression model of long‐term outcome measures (abnormal neurodevelopment, seizures, requirement for neurosurgery).ResultsTwenty‐one per cent of children with multiple CMN had an abnormal MRI. Abnormal MRI was the most significant predictor of all outcome measures. Abnormalities were subclassified into group 1 ‘intraparenchymal melanosis alone’ (n = 28) and group 2 ‘all other pathology’ (n = 18). Group 1 was not associated with malignancy or death during the study period, even when symptomatic with seizures or developmental delay, whereas group 2 showed a much more complex picture, requiring individual assessment.ConclusionsFor screening for congenital neurological lesions a single MRI in multiple CMN is a clinically relevant strategy. Any child with a stepwise change in neurological/developmental symptoms or signs should have an MRI with contrast of the brain and spine to look for new CNS melanoma.

show abstract

“…J Neurosurg Pediatr 12:21-24, July 2013) describes a case of neurocutaneous melanosis complicated by seizures, which were cured by temporal lobe resection. This has been described in various recent reports, 1,3,5,9 and this further example is a welcome addition to the literature to publicize the use of surgery in cases where medical therapy for seizures has failed. However, the authors claim that involvement of the amygdala in the absence of leptomeningeal involvement is a rare occurrence, stating that only 7 such cases have been described in the literature.…”

Section: Neurocutaneous Melanosismentioning

confidence: 83%

Letters to the Editor: Neurocutaneous melanosis

Kinsler¹

2013

PED

View full text Add to dashboard Cite

Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI

Cited by 26 publications

References 17 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

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome

Letters to the Editor: Neurocutaneous melanosis

Contact Info

Product

Resources

About