Molecular analysis of atypical deep penetrating nevus progressing to melanoma

Isales, Maria C.; Khan, Ayesha U.; Zhang, Bin; Compres, Elsy V.; Kim, Daniel; Tan, Timothy L.; Beaubier, Nike; Gerami, Pedram

doi:10.1111/cup.13775

Cited by 15 publications

(20 citation statements)

References 17 publications

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“…DPN can occur as “pure” with predominant population of the above‐mentioned components or as “combined” in combination with common acquired nevus (CAN) and less commonly with blue nevus. DPNs are also described with spectrum of borderline melanocytic neoplasms and DPN‐like melanomas with positive lymph nodes 1,2 . Molecular profiling of DPNs has shown to harbor additional activating β‐catenin/pathway mutation along with MAP Kinase pathway mutations that are commonly identified in CANs, confirming that these lesions are genetically distinct from melanocytic neoplasm that share similar related clinical and histopathologic features such as blue nevus, Spitz nevi, and pigmented melanocytomas 3,4 .…”

Section: Figurementioning

confidence: 89%

Deep penetrating nevus with clear‐cell changes

2022

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Identification of an eosinophilic sheath around a hair shaft should raise suspicion for louse infestation. This unique finding most likely represents a section through the nit sheath that adheres the organism's nit to the hair shaft. This adhesive structure is visible in Figure 2. Chemical analysis of the louse nit sheath has previously revealed that it is proteinaceous rather than chitinous in composition. 9 This may allow for directed therapies for lice infestation through the disruption or inhibition of adhesive solidification. 10 Therapies that target the nit sheath could serve an important clinical role by eliminating empty nits after successful eradication of live organisms; this becomes particularly important with regard to "no nit" policies that are supported by the National Pediculosis Association as well as schools throughout the United States. Such policies prevent children from returning to the classroom until all identifiable nits have been removed, regardless of whether they represent active infection. Indeed, the nit sheath can influence therapeutic approaches as well as serve a role in diagnosis if sampled upon biopsy.

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Section: Figurementioning

confidence: 89%

Deep penetrating nevus with clear‐cell changes

2022

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“…At the genetic level, besides alterations in the β-catenin pathway, the tumor carried mutations in IDH1 and NRAS (codon 61) genes. In the context of DPN, NRAS mutations have been reported thus far in sporadic observations, including a combined nevus with a DPN component and a case of atypical DPN progressing to melanoma [ 33 , 34 ]. In addition, a subset of melanomas with IDH1 mutations that are significantly associated with co-existing NRAS mutations has been described [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

NGS-Based Analysis of Atypical Deep Penetrating Nevi

Manca

Sini

Cesinaro

et al. 2021

Cancers

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Deep penetrating nevi (DPNs) are rare melanocytic neoplasms consisting of pigmented spindled or epithelioid melanocytes with a distinctive wedge-shaped configuration showing activation of the WNT pathway, with unusual cyto-architectural features. It is unclear whether they show a distinct genomic profile associated with a diverse metastatic potential. We describe herein a cohort of 21 atypical DPNs analyzed by next-generation sequencing using the Ion AmpliSeq™ Comprehensive Cancer Panel. We found that β-catenin exon 3 was mutated in 95% and MAP kinase pathway genes in 71% of the cases. Less frequent mutations were observed in HRAS (19%) and MAP2K1 (24%). Isocitrate dehydrogenases 1 (IDH1) mutations, including R132C, V178I, and S278L, were identified in 38% of cases and co-existed with BRAF/HRAS mutations. The only case with progressive nodal disease carried alterations in the β-catenin pathway and mutations in IDH1 and NRAS (codon 61). By a comprehensive mutation analysis, we found low genetic heterogeneity and a lack of significant associations between specific gene mutations and histopathological features, despite atypical features. Whether the acquisition of an NRAS or IDH1 mutation in an atypical DPN may represent a molecular evolution implying a pathway to melanoma progression should be confirmed in a larger series.

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“…This further supports the concept that the more conventional melanoma was the more aggressive portion of the tumor. A recent report of an atypical DPN recurring and progressing as a melanoma showed a hotspot TERT promoter mutation in the melanoma that was not present in the precursor lesion (Isales et al., 2020).…”

Section: Discussionmentioning

confidence: 99%

Molecular characterization of biphenotypic epithelioid and plexiform melanoma with deep penetrating nevus‐like features

Giubellino

Nelson

et al. 2021

Pigment Cell Melanoma Res

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Tumor heterogeneity is a relevant hallmark of melanoma due to the high mutation burden and immunogenicity commonly encountered. Heterogeneity at the histologic level frequently corresponds to heterogeneity at the molecular level. A better understanding of this feature of malignancy can help refine the development of predictive biomarkers and to define more effective targeted therapies. Here, we describe a case of melanoma displaying a dual phenotype: a DPN‐like/plexiform portion in conjunction with a conventional epithelioid morphology. Molecular studies revealed shared BRAF and PTEN mutations in both components but a CTNNB1 mutation was exclusively found in the DPN‐like area of the tumor, consistent with the distinct morphology observed. There was considerable heterogeneity in sequence variants identified in the two regions. Gene expression analysis highlighted differentially regulated genes between the two histologies, including a relevant cluster of genes in the receptor tyrosine kinase (RTK) family and related signaling pathways upregulated in the DPN‐like/plexiform area.

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Molecular analysis of atypical deep penetrating nevus progressing to melanoma

Cited by 15 publications

References 17 publications

Deep penetrating nevus with clear‐cell changes

Deep penetrating nevus with clear‐cell changes

NGS-Based Analysis of Atypical Deep Penetrating Nevi

Molecular characterization of biphenotypic epithelioid and plexiform melanoma with deep penetrating nevus‐like features

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