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RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES
Neurocutaneous melanocytosis (NCM) is a rare disease characterized by excessive proliferation and deposition of melanocytes in the leptomeninges and brain parenchyma, occurring in children with large congenital melanocytic nevi (LCMN). Manifestations of NCM range from asymptomatic CNS melanin deposi...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715959/ http://dx.doi.org/10.1093/neuonc/noaa222.735 |
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author | Sener, Ugur Ennin, Elsie Suser, Stephanie Marghoob, Ashfaq Haque, Sofia Khakoo, Yasmin |
author_facet | Sener, Ugur Ennin, Elsie Suser, Stephanie Marghoob, Ashfaq Haque, Sofia Khakoo, Yasmin |
author_sort | Sener, Ugur |
collection | PubMed |
description | Neurocutaneous melanocytosis (NCM) is a rare disease characterized by excessive proliferation and deposition of melanocytes in the leptomeninges and brain parenchyma, occurring in children with large congenital melanocytic nevi (LCMN). Manifestations of NCM range from asymptomatic CNS melanin deposition to cranial neuropathies, seizures, and hydrocephalus. Patients with NCM are at risk for malignant melanoma. We conducted a retrospective, single-institution study of patients with LCMN evaluated at Memorial Sloan Kettering Cancer Center from June 2000 to January 2020. Of 55 patients studied, 15 had no radiographic NCM, and 40 had radiographic NCM at initial evaluation. MRI findings included: focal melanocytosis (33), diffuse leptomeningeal disease (4), solid melanoma (3). Malformations were identified in 13, including arachnoid cyst (4), congenital hydrocephalus (4), Dandy-Walker malformation (3), and tethered cord (1). Twenty-one patients completed imaging once and were followed clinically. Seventeen with serial imaging (10 with focal melanocytosis, 7 with normal MRI) remained stable over a median 24-month follow up (range: 1–124). Six had suspected radiographic progression of NCM without melanoma. Malignant melanoma developed in 11 patients, 5 with focal melanocytosis on initial imaging. Median time from focal melanocytosis identification to melanoma diagnosis was 80 months (range: 18–200). Median age at melanoma diagnosis was 9.9 years (range: 1.1–25.3). Median survival from melanoma diagnosis was 9.1 months (range: 1–60.4). Focal NCM on neuroaxis imaging does not predict time to transformation to malignant melanoma. Serial imaging is not indicated in absence of disease-modifying treatment. Clinical follow up of at-risk individuals is essential in early identification of complications. |
format | Online Article Text |
id | pubmed-7715959 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-77159592020-12-09 RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES Sener, Ugur Ennin, Elsie Suser, Stephanie Marghoob, Ashfaq Haque, Sofia Khakoo, Yasmin Neuro Oncol Craniopharyngioma and Rare Tumors Neurocutaneous melanocytosis (NCM) is a rare disease characterized by excessive proliferation and deposition of melanocytes in the leptomeninges and brain parenchyma, occurring in children with large congenital melanocytic nevi (LCMN). Manifestations of NCM range from asymptomatic CNS melanin deposition to cranial neuropathies, seizures, and hydrocephalus. Patients with NCM are at risk for malignant melanoma. We conducted a retrospective, single-institution study of patients with LCMN evaluated at Memorial Sloan Kettering Cancer Center from June 2000 to January 2020. Of 55 patients studied, 15 had no radiographic NCM, and 40 had radiographic NCM at initial evaluation. MRI findings included: focal melanocytosis (33), diffuse leptomeningeal disease (4), solid melanoma (3). Malformations were identified in 13, including arachnoid cyst (4), congenital hydrocephalus (4), Dandy-Walker malformation (3), and tethered cord (1). Twenty-one patients completed imaging once and were followed clinically. Seventeen with serial imaging (10 with focal melanocytosis, 7 with normal MRI) remained stable over a median 24-month follow up (range: 1–124). Six had suspected radiographic progression of NCM without melanoma. Malignant melanoma developed in 11 patients, 5 with focal melanocytosis on initial imaging. Median time from focal melanocytosis identification to melanoma diagnosis was 80 months (range: 18–200). Median age at melanoma diagnosis was 9.9 years (range: 1.1–25.3). Median survival from melanoma diagnosis was 9.1 months (range: 1–60.4). Focal NCM on neuroaxis imaging does not predict time to transformation to malignant melanoma. Serial imaging is not indicated in absence of disease-modifying treatment. Clinical follow up of at-risk individuals is essential in early identification of complications. Oxford University Press 2020-12-04 /pmc/articles/PMC7715959/ http://dx.doi.org/10.1093/neuonc/noaa222.735 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Craniopharyngioma and Rare Tumors Sener, Ugur Ennin, Elsie Suser, Stephanie Marghoob, Ashfaq Haque, Sofia Khakoo, Yasmin RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES |
title | RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES |
title_full | RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES |
title_fullStr | RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES |
title_full_unstemmed | RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES |
title_short | RARE-24. LARGE CONGENITAL MELANOCYTIC NEVI AND NEUROCUTANEOUS MELANOCYTOSIS: A RETROSPECTIVE CASE SERIES |
title_sort | rare-24. large congenital melanocytic nevi and neurocutaneous melanocytosis: a retrospective case series |
topic | Craniopharyngioma and Rare Tumors |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715959/ http://dx.doi.org/10.1093/neuonc/noaa222.735 |
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