Neurocutaneous melanocytosis‐associated malignant melanoma presenting with peritoneal seeding

Şener, Uğur; Elmore, Kevin B.; Jayaseelan, Keerthana; Porter, Joanne C.; Marghoob, Ashfaq A.; Rosenblum, Marc K.; Haque, Sofia; Khakoo, Yasmin

doi:10.1111/pde.14789

Cited by 3 publications

(4 citation statements)

References 24 publications

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“…Overall survival of pediatric patients registered in the German Registry for Rare Pediatric Tumors (STEP registry) and literature with diagnosis of a leptomeningeal melanoma on the basis of a neurocutaneous melanocytosis (26 patients with exact survival time) 6–21 …”

Section: Resultsmentioning

confidence: 99%

“…The characteristics of these patients are displayed in Table2. Treatment consisted primarily of medical therapy (n = 20), most commonly based on trametinib (n = 9), temozolomide (n = 4), Overall survival of pediatric patients registered in the German Registry for Rare Pediatric Tumors (STEP registry) and literature with diagnosis of a leptomeningeal melanoma on the basis of a neurocutaneous melanocytosis (26 patients with exact survival time) [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]. or vinca-alkaloids/dacarbazine (n = 3) with various other cytostatic agents, and PD-1 and/or CTLA-4 inhibition (n = 3).…”

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confidence: 99%

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Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition

Abele,

Forchhammer,

Eigentler

et al. 2024

Pediatric Blood & Cancer

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BackgroundMelanomas of the central nervous system (CNS) based on neurocutaneous melanocytosis (NCM) are exceptionally rare in childhood and have been described only sporadically. Rapidly progressive disease may represent a major challenge for treating physicians, especially given the limited knowledge about this condition. This analysis aimed to increase knowledge about the occurrence and treatment of these malignancies.ProcedureData on diagnosis, treatment, and outcome of patients aged 0–18 years with CNS melanoma based on NCM recorded in the German Registry for Rare Pediatric Tumors (STEP registry) were analyzed. Additionally, published case reports on this condition were analyzed.ResultsIn STEP, five patients with leptomeningeal melanoma based on NCM were identified, with a median age at melanoma diagnosis of 3.7 years. Various multimodal treatments were performed: (partial) resection (n = 4), irradiation (n = 2), trametinib (n = 3), different cytostatics (n = 2), and anti‐GD2 immunotherapy (n = 1). All patients died between 0.3 and 0.8 years after diagnosis. Including published case reports, 27 patients were identified with a median age of 2.8 years at melanoma diagnosis (range: 0.2–16.6). Fourteen of 16 cases with reported data had a NRAS alteration (88%), particularly NRAS p.Q61K (85%). In the expanded cohort, no patient survived longer than 1 year after diagnosis despite multimodal therapy (including trametinib; n = 9), with a median survival of 0.4 years (range 0.1–0.9).ConclusionsCNS melanomas based on NCM in childhood are aggressive malignancies without curative treatment to date. Therapeutic approaches must be individualized. Genetic tumor sequencing is essential to improve understanding of tumorigenesis and potentially identify new therapeutic targets.

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Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition

Abele,

Forchhammer,

Eigentler

et al. 2024

Pediatric Blood & Cancer

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“…It is estimated that 5%–10% of patients with GCMN are at risk of developing malignant melanoma (Price & Schaffer, 2010; Sober & Burstein, 1995). Approximately 3%–12% of patients with GCMN have nevi cells involving the central nervous system, a condition called neurocutaneous melanosis (NCM) (Mitre et al, 2021; Sener et al, 2021). Most patients with NCM are asymptomatic at birth.…”

Section: Introductionmentioning

confidence: 99%

“…patients with GCMN have nevi cells involving the central nervous system, a condition called neurocutaneous melanosis (NCM) (Mitre et al, 2021;Sener et al, 2021). Most patients with NCM are asymptomatic at birth.…”

mentioning

confidence: 99%

Establishment and characterization of an immortalized human giant congenital melanocytic nevi cell line

Aimaier

Chung

et al. 2022

Pigment Cell Melanoma Res

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Congenital melanocytic nevi are benign melanocytic tumors that are present at birth. When the diameter of the nevus reaches 20 cm in projected adult size, it is known as a giant congenital melanocytic nevus (GCMN) (Alikhan et al., 2012;Tannous et al., 2005). The estimated incidence of GCMN is between 1/50,000 and 1/20,000 births. GCMN could involve any area of the body surface, and the pigmented appearance presents a heavy psychological burden to the patients and their families. Simultaneously, GCMN has a high risk of transformation into malignant melanomas, as compared with smaller-sized nevi. It is estimated that 5%-10% of patients with GCMN are at risk of developing malignant melanoma (Price &

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Proton craniospinal irradiation with bevacizumab and pembrolizumab for leptomeningeal disease: a case report

et al. 2023

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Leptomeningeal disease (LMD) remains a challenging condition with a dismal prognosis. In this case study, we report partial response of LMD in a patient with metastatic large cell neuroendocrine carcinoma following treatment with proton craniospinal irradiation (CSI), bevacizumab, and pembrolizumab. Two years after the initial diagnosis, he presented with LMD. He underwent proton CSI with bevacizumab followed by combination therapy with pembrolizumab and bevacizumab. He had a partial disease response with progression-free survival after LMD diagnosis of 4.6 months. He unfortunately developed pembrolizumab induced hypophysitis, after which he experienced rapid neurologic clinical progression. Overall, this novel combination led to a durable partial response which warrants prospective evaluation.

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Neurocutaneous melanocytosis‐associated malignant melanoma presenting with peritoneal seeding

Cited by 3 publications

References 24 publications

Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition

Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition

Establishment and characterization of an immortalized human giant congenital melanocytic nevi cell line

Proton craniospinal irradiation with bevacizumab and pembrolizumab for leptomeningeal disease: a case report

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