Primary malignant mucosal melanoma of the upper lip: a case report and review of the literature

Lamichhane, Narayan Sharma; An, Jiping; Liu, Qilin; Zhang, Wei

doi:10.1186/s13104-015-1459-3

Cited by 22 publications

(23 citation statements)

References 29 publications

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“…Oral mucosal melanoma (OMM) is a rare manifestation of melanoma, resulting from the malignant transformation of melanocytes in the basal layer of maxillary or gingival mucosa . OMM is less common than its cutaneous counterpart, accounting for less than 1% and 7.5% of cases of melanoma diagnosed in the United States and Asia, respectively .…”

Section: Introductionmentioning

confidence: 99%

Whole‐exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets

Lyu

Song

Chen

et al. 2018

The Journal of Pathology

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Oral mucosal melanoma (OMM) is a rare and aggressive subtype of melanoma with little known about its pathogenesis or carcinogenesis. We therefore performed whole-exome sequencing (WES) on 19 matched OMM tumor/normal pairs in order to gain insight into potential genetic drivers of tumor formation. For the first time, we describe the comprehensive mutational profile of OMM. Our data suggest that the genetic background of OMM differs from those of other melanoma subtypes. We identified recurrent mutations involving KIT, POLE, PTPRD, PTCHD2, and DMXL2. Notably, copy number analysis revealed recurrently amplified regions of 12q14 (57.9%, containing CDK4) and 5p15 (47.4%, containing TERT). CNV analysis in a separate cohort of 15 samples validated the frequent CNV in CDK4 and TERT. We also observed that the melanocyte development and pigmentation signaling pathway is frequently altered in OMM. Furthermore, our data suggest several altered genes that may be amenable for targeted therapy. We identified one patient with metastatic OMM in our cohort who was identified to harbor a targetable KIT mutation using our WES results. This patient was able to achieve complete remission following implementation of KIT-targeted therapy. These findings provide further insight into the genetic underpinnings of OMM development and suggest that patients with OMM may benefit from WES analysis to identify potential targetable genetic mutations. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

Whole‐exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets

Lyu

Song

Chen

et al. 2018

The Journal of Pathology

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“…14 If excision is not performed, the oral melanotic macule should at least be monitored at frequent intervals for any change in shape, size, or color. 15 Initially, the differential diagnoses for this case included strictly pigmented lesions and combined with the generalized clinical appearance, the lesion did not suggest a GCF. Conventionally, GCFs comprised a fibrous mucosal mass of hyperplastic connective tissue, asymptomatic, typically of normal mucosal color, and often described as pedunculated, papillary, or bosselated growths.…”

Section: Discussionmentioning

confidence: 88%

Melanotic Macule in Conjunction with a Giant Cell Fibroma

Seitz

Dinh

Yoon

2017

The Journal of Contemporary Dental Practice

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Introduction The aim of this study is to describe a case of a melanotic macule found in conjunction with a giant cell fibroma (GCF). For oral pigmented lesions without an identifiable etiologic factor, critical factors in determining the differential diagnosis are clinical history, symmetry, and uniformity of the lesions. Potential differential diagnosis includes racial pigmentation, endocrine disturbance, Peutz–Jeghers syndrome, trauma, hemochromatosis, oral malignant melanoma, or idiopathic etiology and melanotic macules. Melanotic macules are the most common solitary pigmented melanocytic lesions in the oral mucosa, corresponding to 86.1% of melanocytic lesions of the mouth. Giant cell fibromas are reactive connective tissue lesions in the oral cavity. They were first described as a distinct entity in 1974 by Weathers and Callihan and make up around 5 to 10% of all oral mucosa fibrous lesions. They are commonly mistaken for other growths, such as pyogenic granuloma and fibroma, and diagnosis is accurately based on its distinctive histopathology. This article presents the clinicopathologic findings of a 15-year-old Hispanic male presenting for biopsy of a melanotic macule on the mandibular anterior buccal gingiva. Histologic evaluation of the specimen revealed that the lesion also contained a GCF. Pathologic lesions of the mouth should be carefully diagnosed. Conventionally, histologic evaluation is the gold standard to produce a final diagnosis. As evidenced in this article, multiple lesions may exist in a site and may be mistakenly diagnosed as a single entity. Clinical significance While each lesion has been reported individually, in reviewing the literature, no cases were reported in which both histopathologic findings of GCF and melanotic macule were present within the same lesion. How to cite this article Seitz SD, Dinh TN, Yoon TYH. Melanotic Macule in Conjunction with a Giant Cell Fibroma. J Contemp Dent Pract 2017;18(10):981-985.

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“…(13) The most common sites for oral melanoma are hard palate and maxillary gingiva. (14) Etiopathogenesis: This tumor is of melanocytic origin. Melanocytes are the neural crest-derived cells that are present within the basal cell layer of the skin and mucous membrane.…”

Section: Discussionmentioning

confidence: 99%

Intricacies of Oral Malignant Melanoma - A Case Report

Tamboli¹

2017

IOSR JDMS

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Primary malignant mucosal melanoma of the upper lip: a case report and review of the literature

Cited by 22 publications

References 29 publications

Whole‐exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets

Whole‐exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets

Melanotic Macule in Conjunction with a Giant Cell Fibroma

Intricacies of Oral Malignant Melanoma - A Case Report

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