Congenital melanocytic nevi: update in genetics and management

Price, Harper

doi:10.1097/mop.0000000000000384

Cited by 38 publications

(29 citation statements)

References 31 publications

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“…Cutaneous nevi have NRAS and BRAF mutations. 1 , 2 BRAF is a serine-threonine kinase and NRAS an isoform of the RAS family of GTPase proteins; and both activate the MAPK signaling cascade, which leads cell cycle progression and cell proliferation. Similarly, for all the conjunctival nevi in this study, immunoreactivity and mutational analysis allowed for identification of either an NRAS or BRAF aberration.…”

Section: Discussionmentioning

confidence: 99%

“…For cutaneous nevi, the presence of either a BRAF or NRAS mutation has been associated with specific clinical features. 1 – 4 For instance, congenital cutaneous nevi are more likely to harbor NRAS mutations, while acquired nevi have a propensity toward BRAF mutations. 1 – 3 One prior study on conjunctival nevi, that evaluated for BRAF mutations only, found no difference in the proportion of children and adults with mutant lesions.…”

Section: Discussionmentioning

confidence: 99%

“… 1 – 4 For instance, congenital cutaneous nevi are more likely to harbor NRAS mutations, while acquired nevi have a propensity toward BRAF mutations. 1 – 3 One prior study on conjunctival nevi, that evaluated for BRAF mutations only, found no difference in the proportion of children and adults with mutant lesions. 7 On the contrary, in our series, NRAS mutations were statistically more frequent in patients reporting the occurrence of their conjunctival nevus prior to the age of 18 years.…”

Section: Discussionmentioning

confidence: 99%

“…For instance, cutaneous nevi have mutually exclusive mutations in NRAS and BRAF and these are shown to associate with particular clinic-pathological features. 1 – 4 Even though conjunctival melanomas (for some of which conjunctival nevi are thought to be precursor lesions) have mutually exclusive mutations in NRAS and BRAF, 5 – 9 only BRAF mutations have so far been documented in conjunctival nevi. Furthermore, the majority of cutaneous blue nevi have a unique genetic identity with mutations in GNAQ or GNA11 , and the presence of these mutations have been confirmed in oral and central nervous system blue nevi, 10 – 15 but not in the conjunctiva.…”

mentioning

confidence: 99%

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BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi

Francis

Grossniklaus

Habib

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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PurposeTo evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi.MethodsSurgical specimens from 25 conjunctival melanocytic nevi (23 common and 2 blue) of 25 patients were evaluated. All common nevi were analyzed immunohistochemically for the expression of BRAF V600E or NRAS Q61R. One lesion with negative immunoreactivity and for all blue nevi, a hybridization capture-based next-generation sequencing method was employed for mutation analysis. For common nevi, genetic features were compared with clinical and histopathologic findings. Continuous variables (age at excision and largest basal diameter) were compared with a Students's t-test and all categoric variables were compared with Fisher's Exact Test.ResultsOf common melanocytic nevi, 9 (39.1%) were immunoreactive for NRASQ61R and 13 (56.5%) were immunoreactive for BRAFV600E. One common nevus, which was immunonegative for both BRAFV600E and NRASQ61R was found to harbor an NRASQ61K mutation by sequence analysis. Patients with NRAS-mutated nevi were more likely to report occurrence of the lesion prior to 18-years old and more likely to have intrinsic cysts. The mean largest basal diameter was 6.0 and 3.5 mm for NRAS- and BRAF-immunoreactive lesions, respectively (P = 0.003). GNAQ mutations were identified in each of the two blue nevi of this study.ConclusionsThese findings document that common conjunctival melanocytic nevi have mutually exclusive mutations in BRAF and NRAS. The two conjunctival blue nevi harbored GNAQ mutations. This suggests the driver mutations of conjunctival nevi are similar to those of nevi of the skin. At the molecular level, conjunctival nevi appear more like cutaneous nevi than choroidal nevi.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi

Francis

Grossniklaus

Habib

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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“…Treatment should be individualized, taking into consideration the age of the patient, the size and location of the lesions, the risk of melanoma, the possibility of a NCM, and the presence of other congenital abnormalities or comorbidities. The prognosis depends on all of these factors [ 4 , 14 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

Giant congenital melanocytic nevus in a Cameroonian child: a case report

Endomba¹,

Mbega²,

Tochie³

et al. 2018

J Med Case Reports

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BackgroundGiant congenital melanocytic nevus is a very rare condition characterized by a large skin lesion and an increased risk of complications like neurocutaneous melanosis and malignant transformation. Reports of giant congenital melanocytic nevus are scarce in the sub-Saharan African literature and here we present a case of this disease in a Cameroonian adolescent.Case presentationA 12-year-old Cameroonian girl from the "Baka" ethnic group, with no relevant family and medical histories presented with a progressively extensive brownish-black nodular hypertrophic skin lesion of approximately 45 cm, which she had had since she was 2-days old. The lesion covered her entire back giving an appearance of “turtle child”, which was highly suggestive of a giant congenital melanocytic nevus. She was booked in for a surgical intervention organized by a health campaign within her community. Meanwhile she was provided with psychological support and her family was counseled on warning signs of complications which would warrant an urgent consultation.ConclusionsHere we presented a case of giant congenital melanocytic nevus, apparently the first in the Cameroonian literature. In view of the potential severe complications as well as psychological trauma of this pathology, we draw clinicians’ attention to this extremely rare but real pathology in our country, for a timely diagnosis and management.

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Understanding users of cloud music services: Selection factors, management and access behavior, and perceptions

Lee

Wishkoski

Aase

et al. 2016

Asso for Info Science & Tech

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Recent, rapid changes in technology have resulted in a proliferation of choices for music storage and access. Portable, web‐enabled music devices are widespread, and listeners now enjoy a plethora of options regarding formats, devices, and access methods. Yet in this mobile music environment, listeners' access and management strategies for music collections are poorly understood, because behaviors surrounding the organization and retrieval of music collections have received little formal study. Our current research seeks to enrich our knowledge of people's music listening and collecting behavior through a series of systematic user studies. In this paper we present our findings from interviews involving 20 adult and 20 teen users of commercial cloud music services. Our results contribute to theoretical understandings of users' music information behavior in a time of upheaval in music usage patterns, and more generally, the purposes and meanings users ascribe to personal media collections in cloud‐based systems. The findings suggest improvements to the future design of cloud‐based music services, as well as to any information systems and services designed for personal media collections, benefiting both commercial entities and listeners.

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Congenital melanocytic nevi: update in genetics and management

Abstract: The management of patients with CMN is complex. Neurologic involvement and melanoma remain the two most devastating complications. New, genetically targeted therapies for patients with complications may be of value, and research for potential therapies is ongoing.

Cited by 38 publications

References 31 publications

BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi

BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi

Giant congenital melanocytic nevus in a Cameroonian child: a case report

Understanding users of cloud music services: Selection factors, management and access behavior, and perceptions

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