Primary Melanoma of the Leptomeninges with <scp>BAP1</scp> Expression‐Loss in the Setting of a Nevus of Ota: A Clinical, Morphological and Genetic Study of 2 Cases

Goldman-Levy, G.; Rigau, Valérie; Bléchet, Claire; Bens, Guido; Muckensturm, B; Delage, Manuela; Labrousse, François; Haddad, Véronique; Attignon, Valéry; Pissaloux, Daniel; Fouchardière, Arnaud de la

doi:10.1111/bpa.12363

Cited by 9 publications

(4 citation statements)

References 19 publications

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“…UMs, LMNs, and blue nevi harbor activating mutations along the CYSLTR2-Gα 11/q -PLCβ pathway, and they can have mutually exclusive cooperating mutations in BAP1 , SF3B1 , and EIF1AX that convey poor, intermediate, and favorable risk, respectively ( de la Fouchardière et al, 2015 ; Goldman-Lévy et al, 2016 ; Küsters-Vandevelde et al, 2016 ). This distinct molecular profile is observed in a small subset of CMs and ~10% of mucosal melanomas ( Sheng et al, 2016 ).…”

Section: Discussionmentioning

confidence: 99%

GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma

Moore

Ran²,

Guan

et al. 2018

Cell Reports

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SUMMARY Uveal melanoma (UM) is characterized by mutually exclusive activating mutations in GNAQ, GNA11, CYSLTR2, and PLCB4, four genes in a linear pathway to activation of PLCβ in almost all tumors and loss of BAP1 in the aggressive subset. We generated mice with melanocyte-specific expression of GNA11Q209L with and without homozygous Bap1 loss. The GNA11Q209L mice recapitulated human Gq-associated melanomas, and they developed pigmented neoplastic lesions from melanocytes of the skin and non-cutaneous organs, including the eye and leptomeninges, as well as at atypical sites, including the lymph nodes and lungs. The addition of Bap1 loss increased tumor proliferation and cutaneous melanoma size. Integrative transcriptome analysis of human and murine melanomas identified RasGRP3 to be specifically expressed in GNAQ/GNA11-driven melanomas. In human UM cell lines and murine models, RasGRP3 is specifically required for GNAQ/GNA11-driven Ras activation and tumorigenesis. This implicates RasGRP3 as a critical node and a potential target in UM.

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Section: Discussionmentioning

confidence: 99%

GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma

Moore

Ran²,

Guan

et al. 2018

Cell Reports

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“…Of the 92 primary CNS melanoma cases in our compilation, 13 patients reported their genetic status (Burgos et al., 2021; de la Fouchardière et al., 2015; El Habnouni et al., 2018; Fortin Ensign et al., 2020; Goldman‐Lévy et al., 2016; Hanft et al., 2022; Kinsler et al., 2017; Schäfer et al., 2013) (Table 1). This included three cases with GNAQ mutations, five cases with NRAS mutations, one case with BAP1 deletion, one case with INPP4B Q204R mutation, and one case with BRAF V600E mutation.…”

Section: Molecular Pathologymentioning

confidence: 99%

Clinicopathological features, current status, and progress of primary central nervous system melanoma diagnosis and treatment

Guo,

Wei,

Guo

et al. 2023

Pigment Cell Melanoma Res

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Primary central nervous system (CNS) melanoma is an extremely rare condition, with an incidence rate of 0.01 per 100,000 individuals per year. Despite its rarity, the etiology and pathogenesis of this disease are not yet fully understood. Primary CNS melanoma exhibits highly aggressive biological behavior and presents clinically in a distinct manner from other types of melanomas. It can develop at any age, predominantly affecting the meninges as the primary site, with clinical symptoms varying depending on the neoplasm’s location. Due to the lack of specificity in its presentation and the challenging nature of imaging diagnosis, distinguishing primary CNS melanoma from other CNS diseases. The combination of challenges in early detection, heightened tumor aggressiveness, and the obscured location of its origin contribute to an unfavorable prognostic outcome. Furthermore, there has been currently no consensus on a standardized treatment approach for primary CNS melanoma. Despite recent advancements in targeted therapy and immunotherapy for CNS melanoma, patients with primary CNS melanoma have limited treatment options due to their inadequate response to these therapies. Here, we provided a comprehensive summary of the epidemiology, clinical features, molecular pathological manifestations, and available diagnostic and therapeutic approaches of primary CNS melanoma. Additionally, we proposed potential therapeutic strategies for it.

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“…Primary malignant melanomas of the central nervous system (CNS) associated with nevus of Ota appear to be more common than the previously described sites, with 18 reported cases in the current literature (Table 3). 8,33‐46 Twelve of the 17 cases where gender was reported were in females (71%), giving a 2.4 : 1 female‐to‐male ratio. The age of onset of the melanoma varied from 21 to 76, with an average age of 47.…”

Section: Introductionmentioning

confidence: 99%

“…While the brain is a common site of melanoma metastasis, primary CNS melanomas do not tend to metastasize. Only two cases of metastasis in the setting of nevus of Ota have been reported in the literature: a 42‐year‐old female with metastasis to the liver and bone after the second occurrence of the tumor and a 64‐year‐old male with metastasis to the bladder 39,45 . Though there is no standardized treatment for primary malignant CNS melanoma, the most common form of treatment is surgical resection of the tumor.…”

Section: Introductionmentioning

confidence: 99%

Melanoma in the setting of nevus of Ota: a review for dermatologists

et al. 2020

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Nevus of Ota, also known as oculodermal melanocytosis or nevus fuscoceruleus ophthalmomaxillaris, is a benign dermal melanocytic nevus that most commonly affects Asian women. While the lesion is largely a cosmetic concern, it has the potential to undergo malignant transformation to melanoma. Patients with nevus of Ota often present to a dermatologist at some point for examination or removal with laser therapy. Therefore, it is important for dermatologists to understand the cutaneous and extracutaneous risks these lesions carry and how they may present to further optimize management and appropriate referrals. This review describes the demographic, clinical, and prognostic features of melanoma in the setting of nevus of Ota, divided by the nature of the primary melanoma: cutaneous, orbital, intracranial.

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Primary Melanoma of the Leptomeninges with BAP1 Expression‐Loss in the Setting of a Nevus of Ota: A Clinical, Morphological and Genetic Study of 2 Cases

Cited by 9 publications

References 19 publications

GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma

GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma

Clinicopathological features, current status, and progress of primary central nervous system melanoma diagnosis and treatment

Melanoma in the setting of nevus of Ota: a review for dermatologists

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