Sinonasal mucosal melanoma: Molecular profile and therapeutic implications from a series of 32 cases

Turri‐Zanoni, Mario; Medicina, Daniela; Lombardi, Davide; Ungari, Marco; Balzarini, Piera; Rossini, Claudia; Pellegrini, Wilma; Battaglia, Paolo; Capella, Carlo; Castelnuovo, Paolo; Palmedo, Gabriele; Facchetti, Fabio; Kutzner, Heinz; Nicolai, Piero; Vermi, William

doi:10.1002/hed.23079

Cited by 116 publications

(106 citation statements)

References 86 publications

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“…The incidence of the NRAS mutation according to tumor site was highest in the extremities (25%), followed by the face or scalp (18%) and trunk (18%) [55,61,63]. NRAS mutations have also been found in conjunctival melanomas (18% frequency) [63], sinonasal melanomas (22%) [65], esophageal melanomas (37.5%), including mutations in exon 1, which is a rare mutation site for cutaneous melanoma [66]. Interestingly, melanoma of unknown primary sites showed NRAS mutations in 32% of cases associated with high somatic mutation rates, high ratios of C>T/G>A transitions, and a 45% of BRAF mutations, collectively indicating a mutation profile consistent with cutaneous sun-exposed melanomas [67].…”

Section: Nras In Melanocytic Cell Neoplasmsmentioning

confidence: 99%

Nras in melanoma: Targeting the undruggable target

Mandalà

Merelli

Massi

2014

Critical Reviews in Oncology/Hematology

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Section: Nras In Melanocytic Cell Neoplasmsmentioning

confidence: 99%

Nras in melanoma: Targeting the undruggable target

Mandalà

Merelli

Massi

2014

Critical Reviews in Oncology/Hematology

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“…Although both mutations occur in a high percentage in cutaneous melanoma, mucosal melanomas have very low frequencies in BRAF mutation (4%) and higher in NRAS mutation (11%) 15 . Other studies confirmed the same finding which suggested that targeted treatments with selective BRAF inhibitors (vemurafenib and dabrafenib that were shown to improve overall and progression-free survival in cutaneous melanomas) are not of use in mucosal melanomas, especially in the head and neck site [34][35][36] . The new staging system according to the 8 th Edition of the American Joint Committee on Cancer (AJCC) 37 established a novel approach on T, N and M categories.…”

Section: Discussionmentioning

confidence: 71%

Primary sinonasal mucosal melanoma – Case report and literature review

Evsei

Birceanu-Corobea

Melinte

et al. 2017

Romanian Journal of Rhinology

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BACKGROUND. Primary sinonasal mucosal melanoma is a rare tumor with a poor survival rate. There is an inherent difficulty in diagnosing these lesions, especially because their complex anatomic locations and symptoms can be frequently confused with other benign or malignant processes. The purpose of our study was to report a difficult case and review the literature and recent research on therapeutic modalities. MATERIAL AND METHODS. We herein report a 61-year-old female patient, with a history of right eye enucleation and prosthesis, who presented with obstruction of the left nostril, anterior and posterior mucopurulent rhinorrhea, anosmia, left facial numbness, left exophthalmia accompanied by ipsilateral epiphora and decreased visual acuity. RESULTS. Clinical and imagistic testing revealed a large, grayish, fleshy tumor localized in the left maxillary sinus, with extension to the left orbit (producing osteolysis of the inferior and medial orbital walls), nasopharynx, ethmoidal cells and left frontal sinus. Pathological and immunohistochemical examination confirmed the diagnosis of mucosal melanoma. Other primary sites were excluded. The patient succumbed shortly after, following only palliative treatment. CONCLUSION. Early diagnosis of primary sinonasal mucosal melanoma is essential but very difficult to detect. Any symptoms such as unilateral epistaxis or nasal obstruction in a patient over the age of 60 should be rendered suspicious. Pathological and immunohistochemical examination for diagnosis and prognostic factors are important. Although surgery is the first option for treatment, one must consider, according to tumor staging, radiotherapy and chemotherapy with immunotherapy as a viable course of treatment for advanced cases.

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“…The atypical transformed melanocytes express abnormalities in the c-kit/stem cell factor pathway, in the endothelin receptor type B/endothelin pathway, and in the Wnt/ b-catenin pathway, and also show abnormal expression of cell-adhesion molecules [5,14,18,22,41,42]. Together, these molecular lesions selectively confer upon the atypical transformed melanocytes a competitive advantage in terms of their fitness and growth in relation to the neighbouring normal cells.…”

Section: Discussionmentioning

confidence: 99%

Oral Mucosal Melanoma: Some Pathobiological Considerations and an Illustrative Report of a Case

Tlholoe

Khammissa

Bouckaert

et al. 2014

Head and Neck Pathol

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Oral mucosal melanoma is a relatively rare malignancy with an aggressive clinico-pathological behaviour. The mean 5-year survival rate is about 15 %. It arises primarily from melanocytes found in the basal cell layer of the epithelium, but may sometimes arise from melanocytes residing in the lamina propria. The pathogenesis is complex, and few of the molecular mechanisms underlying the development of oral mucosal melanoma have been defined. The extraneous risk factors associated with oral mucosal melanoma, if any, are unknown. Oral mucosal melanomas account for about 25 % of all mucosal melanomas of the head and neck, and exhibit a profile of cytogenetic alterations, and a pathobiological behaviour and clinical course different from that of cutaneous melanomas. As they are usually painless and grow quickly, as a rule, they are diagnosed late in the course of the disease when the lesions are already large and have metastasized to regional lymph nodes. In this paper we discuss some aspects of the pathobiology of oral mucosal melanoma, and present an illustrative case report.

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Sinonasal mucosal melanoma: Molecular profile and therapeutic implications from a series of 32 cases

Abstract: This molecular fingerprint strongly argues against the clinical efficacy of BRAF-inhibitors, but could candidate primary sinonasal mucosal melanomas to therapeutic strategies targeting RAS and KIT mutations or inhibiting PI3K-Akt-mTOR pathway.

Cited by 116 publications

References 86 publications

Nras in melanoma: Targeting the undruggable target

Nras in melanoma: Targeting the undruggable target

Primary sinonasal mucosal melanoma – Case report and literature review

Oral Mucosal Melanoma: Some Pathobiological Considerations and an Illustrative Report of a Case

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