So‐called “malignant blue nevus”

Martin, Richard C.; Murali, Rajmohan; Scolyer, Richard A.; Fitzgerald, Patrick; Colman, Marjorie H.; Thompson, John F.

doi:10.1002/cncr.24319

Cited by 65 publications

(29 citation statements)

References 38 publications

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“…However, although rare, there are atypical and malignant blue nevi (also termed ‘blue nevus-like melanoma’) that have the potential to metastasize and result in patient death. 5–7 Although the cases are not presented here (manuscript in preparation), we were able to identify and analyze eight tumors of the rare entity malignant blue nevus. No CYSLTR2 mutations were identified.…”

Section: Discussionmentioning

confidence: 99%

Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi

Möller¹,

Murali

Müller

et al. 2017

Modern Pathology

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Blue nevi are common melanocytic tumors arising in the dermal layer of the skin. Similar to uveal melanomas, blue nevi frequently harbor GNAQ and GNA11 mutations. Recently, recurrent CYSLTR2 and PLCB4 mutations were identified in uveal melanomas not harboring GNAQ or GNA11 mutations. All four genes (GNAQ, GNA11, CYSLTR2, and PLCB4) code for proteins involved in the same signaling pathway, which is activated by mutations in these genes. Given the related functional consequences of these mutations and the known genetic similarities between uveal melanoma and blue nevi, we analyzed a cohort of blue nevi to investigate whether CYSLTR2 and PLCB4 mutations occur in tumors lacking GNAQ or GNA11 mutations (as in uveal melanoma). A targeted next-generation sequencing assay covering known activating mutations in GNAQ, GNA11, CYSLTR2, PLCB4, KIT, NRAS, and BRAF was applied to 103 blue nevi. As previously reported, most blue nevi were found to harbor activating mutations in GNAQ (59%, n = 61), followed by less frequent mutations in GNA11 (16%, n = 17). Additionally, one BRAF (1%) and three NRAS (3%) mutations were detected. In three tumors (3%) harboring none of the aforementioned gene alterations, CYSLTR2 mutations were identified. All three CYSLTR2 mutations were the same c.386T > A, L129Q mutation previously identified in uveal melanoma that has been shown to lead to increased receptor activation and signaling. In summary, our study identifies CYSLTR2 L129Q alterations as a previously unrecognized activating mutation in blue nevi, occuring in a mutually exclusive fashion with known GNAQ and GNA11 mutations. Similar to GNAQ and GNA11 mutations, CYSLTR2 mutations, when present, are likely defining pathogenetic events in blue nevi.

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Section: Discussionmentioning

confidence: 99%

Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi

Möller¹,

Murali

Müller

et al. 2017

Modern Pathology

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“…Melanomas that arise from blue nevi or occur in association with them [39] have been termed as ‘malignant blue nevi' (MBN) or blue nevus-like melanomas [40]. The risk of malignant transformation, for instance from PTBN, is unknown and, although it remains rare, cases are well described in the literature, often with fatal visceral metastases [41,42].…”

Section: Discussionmentioning

confidence: 99%

Large Agminated Cellular ‘Plaque-Type' Blue Nevus Surrounding the Ear: A Case and Review

Spring

Perrier

Erba³

et al. 2013

Dermatology

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Large or giant cellular blue nevi are usually congenital and represent a challenge for the physician. Close anatomic structures may be altered by the size of the moles. In this article, we report the case of an uncommon large, agminated, cellular blue nevus of the ‘plaque type' in a 42-year-old female. Due to the risks of malignant melanoma development on a large or giant blue nevus, we highlight the importance of proper histopathological diagnosis. Furthermore, because of the possibility that the nevus may invade the bone and cerebral tissues, we discuss the indication of a radiological diagnosis. The accurate correlation to clinical and histopathological findings and appropriate multidisciplinary management can save the lives of patients.

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“…The genetic alterations in blue nevus-like melanoma have not been systematically studied but have similarities with blue nevi and uveal melanoma with frequent mutations in GNAQ or GNA11 and losses of chromosome 3 (21, 129). Blue nevus-like melanomas further share with uveal melanoma a propensity to metastasize to the liver and bone (130). …”

Section: Melanocytic Neoplasms Originating From Melanocytes Not Assocmentioning

confidence: 99%

The Molecular Pathology of Melanoma: An Integrated Taxonomy of Melanocytic Neoplasia

Bastian

2014

Annu. Rev. Pathol. Mech. Dis.

436

388

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Melanomas are comprised of multiple biologically distinct categories, which differ in cell of origin, age of onset, clinical and histologic presentation, pattern of metastasis, ethnic distribution, causative role of UV radiation, predisposing germ line alterations, mutational processes, and patterns of somatic mutations. Neoplasms are initiated by gain of function mutations in one of several primary oncogenes, typically leading to benign melanocytic nevi with characteristic histologic features. The progression of nevi is restrained by multiple tumor suppressive mechanisms. Secondary genetic alterations override these barriers and promote intermediate or overtly malignant tumors along distinct progression trajectories. The current knowledge about pathogenesis, clinical, histological and genetic features of primary melanocytic neoplasms is reviewed and integrated into a taxonomic framework.

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So‐called “malignant blue nevus”

Cited by 65 publications

References 38 publications

Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi

Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi

Large Agminated Cellular ‘Plaque-Type' Blue Nevus Surrounding the Ear: A Case and Review

The Molecular Pathology of Melanoma: An Integrated Taxonomy of Melanocytic Neoplasia

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