Melanoma in individuals with neurofibromatosis type 1: a retrospective study

Zhang, May; Bhat, Trisha; Gutmann, David H.; Johnson, Kimberly

doi:10.5070/d32511046137

Cited by 7 publications

(12 citation statements)

References 19 publications

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“…Neurofibromin 1 ( NF1 ), a tumour suppressor gene encoding a negative regulator of RAS , is the most frequently mutated gene in sun-exposed malignant melanoma, after BRAF and NRAS, being associated with a high risk of metastasis and a high rate of treatment failure [ 77 ]. Discovered in the early 1990s, the somatic NF1 gene mutations are mainly registered in older male patients and in the desmoplastic melanoma type, being frequently associated with other mutations of the RAS pathway [ 78 , 79 ]. Additionally, a triple wild-type melanoma has been described, being characterized by the lack of BRAF , RAS (N/H/K) , and NF1 mutations [ 56 ].…”

Section: Clinicopathological and Molecular Hallmarks Updatementioning

confidence: 99%

The Interplay between Tumour Microenvironment Components in Malignant Melanoma

et al. 2022

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Malignant melanoma has shown an increasing incidence during the last two decades, exhibiting a large spectrum of locations and clinicopathological characteristics. Although current histopathological, biochemical, immunohistochemical, and molecular methods provide a deep insight into its biological behaviour and outcome, melanoma is still an unpredictable disease, with poor outcome. This review of the literature is aimed at updating the knowledge regarding melanoma’s clinicopathological and molecular hallmarks, including its heterogeneity and plasticity, involving cancer stem cells population. A special focus is given on the interplay between different cellular components and their secretion products in melanoma, considering its contribution to tumour progression, invasion, metastasis, recurrences, and resistance to classical therapy. Furthermore, the influences of the specific tumour microenvironment or “inflammasome”, its association with adipose tissue products, including the release of “extracellular vesicles”, and distinct microbiota are currently studied, considering their influences on diagnosis and prognosis. An insight into melanoma’s particular features may reveal new molecular pathways which may be exploited in order to develop innovative therapeutic approaches or tailored therapy.

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Section: Clinicopathological and Molecular Hallmarks Updatementioning

confidence: 99%

The Interplay between Tumour Microenvironment Components in Malignant Melanoma

et al. 2022

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“…[3][4][5] However, the risk of melanoma in patients diagnosed with systemic NF1 mutations is only minimally increased, if at all. 3,[6][7][8][9] Although it is common to find epidermal hyperplastic melanocytes superficially overlaying neurofibromas, 2 a melanoma arising within a preexisting neurofibroma, as in this case, is exceedingly rare. 10 Review of the literature demonstrates a possible link between the molecular pathway of neurofibroma and malignant melanoma, which we hypothesize may create a proliferative environment that may give rise to adjacent neoplasms.…”

Section: Discussionmentioning

confidence: 78%

“…2 Mutations in the NF1 gene have been observed within sporadic melanoma lesions in situ in patients without a systemic NF1 diagnosis, [3][4][5] but conflicting evidence exists in the literature as to whether patients with systemic NF1 diagnoses have an increased risk for melanoma. [6][7][8] Herein, we report an unusual case of malignant melanoma in situ arising from a pre-existing neurofibroma in a patient with no prior systemic neurofibromatosis (NF) diagnosis, to shed light on the shared molecular mechanisms of neurofibroma and malignant melanoma.…”

Section: Introductionmentioning

confidence: 99%

Melanoma Arising From a Pre-existing Neurofibroma in a Patient With No Prior Diagnosis of Systemic Neurofibromatosis 1 or 2: A Case Report

Nasir

Howard

Weiss

2021

The American Journal of Dermatopathology

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The pathophysiology of melanoma involves malignant transformation of melanocytes. These can arise de novo or result from malignant transformation of a pre-existing nevus. This case report presents a patient with a new pigmented lesion, arising from a pre-existing neurofibroma, on her left scapula and no personal or family history of systemic neurofibromatosis. Biopsy confirmed the lesion to be malignant melanoma and, after excision, postoperative pathology showed a pre-existing neurofibroma. A review of the literature suggests there may be a link between the pathogenesis of neurofibroma and malignant melanoma, because NF1 mutations are observed in both neurofibromatosis and malignant melanoma. We hypothesize that the pre-existing neurofibroma created a proliferative environment that gave rise to the adjacent neoplasm. Further research is required to understand the shared pathway, because this may lead to novel forms of surveillance and treatment.

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“…Neurofibromatosis type 1 (NF1), also called Von Recklinghausen disease, is an inherited autosomal dominant disorder that occurs approximately once every 3000 live births [ 1 ]. It results from mutations in the NF1 gene encoding the Neurofibromin protein: a negative regulator of RAS-dependent growth and differentiation of neural crest-derived tissue [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

“…The association between NF1 and some tumor types is well recognized, including peripheral nerve sheath tumors (neurofibromas), malignant peripheral neural sheath tumors (MPNSTs), pheochromocytomas, and optic glioma. The lather is even considered one of the diagnostic criteria of NF1 [ 1 , 2 ]. The risk of melanoma in individuals with NF1 conditions is only minimally increased, although melanoma cells frequently host mutations in the NF1 gene.…”

Section: Introductionmentioning

confidence: 99%

Oral Malignant Melanoma in a Patient With Neurofibromatosis Type 1: An Extremely Rare Association

Berhili¹,

Rezzoug²,

Sghier³

et al. 2022

Cureus

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Neurofibromatosis type 1 (NF1) is a genetic disorder associated with high rates of neural crest-derived tumors, both benign and malignant. Many series have identified cutaneous melanoma as a rare tumor among cancers occurring in individuals with NF1 disease, but the mucosal location has to date never been reported. In this paper, we report an oral melanoma occurring in a patient with NF1 disorder, diagnosed at a locally advanced stage, successfully managed by definitive external beam radiotherapy, along with a comprehensive literature review on the melanoma-NF1 association.

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Melanoma in individuals with neurofibromatosis type 1: a retrospective study

Cited by 7 publications

References 19 publications

The Interplay between Tumour Microenvironment Components in Malignant Melanoma

The Interplay between Tumour Microenvironment Components in Malignant Melanoma

Melanoma Arising From a Pre-existing Neurofibroma in a Patient With No Prior Diagnosis of Systemic Neurofibromatosis 1 or 2: A Case Report

Oral Malignant Melanoma in a Patient With Neurofibromatosis Type 1: An Extremely Rare Association

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