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Melanoma: HELP
Articles by Kara E. Walton
Based on 5 articles published since 2008
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Between 2008 and 2019, Kara Walton wrote the following 5 articles about Melanoma.
 
+ Citations + Abstracts
1 Review Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. 2017

Haugh, Alexandra M / Njauw, Ching-Ni / Bubley, Jeffrey A / Verzì, Anna Elisa / Zhang, Bin / Kudalkar, Emily / VandenBoom, Timothy / Walton, Kara / Swick, Brian L / Kumar, Raj / Rana, Huma Q / Cochrane, Sarah / McCormick, Shelley R / Shea, Christopher R / Tsao, Hensin / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Massachusetts General Hospital Cancer Center, Boston. · Wellman Center for Photomedicine, Department of Dermatology, Massachusetts General Hospital, Boston. · Department of Dermatology, University of Iowa Hospitals and Clinics, and Iowa City VAMC, Iowa City. · Dana Farber Cancer Institute, Boston, Massachusettss. · Section of Dermatology, University of Chicago Medicine, Chicago, Illinois. · The Robert H. Lurie Cancer Center, Northwestern University, Chicago, Illinois. ·JAMA Dermatol · Pubmed #28793149.

ABSTRACT: Importance: Patients with germline mutations in BAP1 may develop several flesh-colored melanocytic BAP1-mutated atypical intradermal tumors (MBAITs). These tumors generally develop earlier than other BAP1-associated tumors, highlighting an important role for dermatologists in identifying and screening patients with a history suggestive of a germline mutation. Objective: To describe 8 new families with germline mutations in BAP1 and provide a comprehensive review of reported cases. Design, Settings and Participants: Patients were identified in an outpatient dermatology clinical setting over a 6-month period (10 mutation carriers from 8 families) and through a literature review using PubMed (205 patients). Exposures: Mutations were identified through next-generation sequencing of saliva or blood samples, and RNA was extracted from fibroblasts cultured from a patient with an intronic variant to determine the impact of the mutation on the coding sequence. Main Outcomes and Measures: All 215 patients were assessed for personal and/or family history and genotype. These findings were compiled and assessed for any association between genotype and phenotype. Results: Overall, this study included 215 patients (108 women, 91 men, and 16 gender unspecified; median [range] age, 46.5 [10.0-79.0] years). Nine of the 10 patients who were identified in the outpatient dermatology setting were found to have MBAITs on clinical examination. Forty of 53 patients (75%) identified in the literature review who underwent total-body skin examinations (TBSE) were found to have MBAITs, suggesting a high penetrance in patients who have undergone TBSE. The most prevalent malignancies among BAP1 mutation carriers were uveal melanoma (n =  60 [28%]), mesothelioma (n = 48 [22%]), cutaneous melanoma (n = 38 [18%]), and renal cell carcinoma (n = 20 [9%]). A total of 71 unique mutations in BAP1 have been reported. Conclusions and Relevance: Our results indicate that germline mutations in both coding and noncoding regions throughout the BAP1 gene can impair protein function, leading to an increased risk for several associated malignancies. Four of the 8 probands we present had no history of BAP1-associated malignancies and were assessed for germline mutations when found to have MBAITs on dermatologic examination. Dermatologists can identify patients with a high likelihood of the BAP1 cancer syndrome through personal and family history and TBSE for the presence of possible MBAITs.

2 Article The role of TERT promoter mutations in differentiating recurrent nevi from recurrent melanomas: A retrospective, case-control study. 2019

Walton, Kara E / Garfield, Erin M / Zhang, Bin / Quan, Victor L / Shi, Katherine / Mohan, Lauren S / Haugh, Alexandra M / VandenBoom, Timothy / Yazdan, Pedram / Isales, Maria Cristina / Panah, Elnaz / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. Electronic address: pgerami1@nm.org. ·J Am Acad Dermatol · Pubmed #30287318.

ABSTRACT: BACKGROUND: Repigmentation at previous biopsy sites pose a significant diagnostic dilemma given clinical and histologic similarities between recurrent nevi and locally recurrent melanoma. Though common in melanoma, the role of TERT promoter mutations (TPMs) in recurrent nevi is unknown. OBJECTIVE: We investigated the role of TPMs in recurrent nevi and whether the presence of hotspot TPM distinguishes recurrent nevi from locally recurrent melanoma. We also characterized clinical and histologic features differentiating these lesions. METHODS: We analyzed 11 locally recurrent melanomas, 17 recurrent nevi, and melanoma and nevus controls to determine TPM status. We also assessed clinical and histologic features of the recurrent groups. RESULTS: Hotspot TPMs were more common in recurrent melanomas than recurrent nevi (P = .008). Recurrent melanomas were more likely to have solar elastosis (P = .0047), multilayering of melanocytes in the epidermis (P = .0221), adnexal involvement (P = .0069), and epidermal consumption (P = .0204). Recurrent nevi had intra-epidermal atypia limited to the area above the scar (P < .0001) and occurred earlier after the original biopsy (P < .0008). Solar elastosis, months to recurrence, and hotspot TPMs were independently associated with recurrent melanoma in multivariate analysis. LIMITATIONS: This was a retrospective study. CONCLUSION: Hotspot TPMs are significantly more frequent in recurrent melanomas and could serve as a diagnostic clue in histologically ambiguous cases.

3 Article Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors. 2018

Garfield, Erin M / Walton, Kara E / Quan, Victor L / VandenBoom, Timothy / Zhang, Bin / Kong, Betty Y / Isales, Maria Cristina / Panah, Elnaz / Kim, Gene / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. Electronic address: pgerami1@nm.org. ·J Am Acad Dermatol · Pubmed #29753057.

ABSTRACT: BACKGROUND: BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs) are often the earliest sign of the BAP1 tumor predisposition syndrome. Identification of BIMTs and selection of patients for germline testing affect the lives of patients with germline BAP1 mutations. OBJECTIVE: To describe the spectrum of histomorphologic findings in BAP1-inactivated melanocytic lesions to improve their recognition. We determined the frequency of sporadic versus germline cases in our cohort, assessing whether any features were statistically linked to germline status. METHODS: Histomorphologic features of BAP1-inactivated melanocytic lesions were analyzed by comparing cases with germline mutations with those with unknown or negative status. Available clinical follow-up data were reported. RESULTS: The histomorphologic spectrum of BAP1-inactivated melanocytic lesions is broad; it includes cases with spitzoid cytomorphology (69%), smaller epithelioid cells without spitzoid features (31%), and rhabdoid cytologic features (58%). BIMTs from patients with germline mutations were statistically more likely to have an extensive junctional component of BAP1-inactivated melanocytes (P = .0177). All 11 patients with suspected or confirmed germline mutations had a history of cutaneous melanoma or multiple BIMTs. LIMITATIONS: The unknown germline status of 77 patients. CONCLUSION: Approximately 12% of patients with BIMTs have germline mutations. Extensive junctional involvement in a BIMT and a personal history of melanoma or previous BIMT may be additional indications for germline testing.

4 Article The diagnostic value and histologic correlate of distinct patterns of shiny white streaks for the diagnosis of melanoma: A retrospective, case-control study. 2018

Verzi, Anna Eliza / Quan, Victor L / Walton, Kara E / Martini, Mary C / Marghoob, Ashfaq A / Garfield, Erin M / Kong, Betty Y / Isales, Maria Cristina / VandenBoom, Timothy / Zhang, Bin / West, Dennis P / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. · Dermatology Service, Memorial Sloan Kettering Cancer Center, Hauppage, New York, New York. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. Electronic address: pgerami1@nm.org. ·J Am Acad Dermatol · Pubmed #29138058.

ABSTRACT: BACKGROUND: Shiny white streaks (SWSs) are best visualized with polarized dermoscopy and correlate with dermal fibroplasia histopathologically. SWSs have been described at higher frequencies in melanomas than in benign nevi. OBJECTIVE: We assessed the diagnostic value of different patterns of SWSs and their histologic correlate in melanocytic lesions. METHODS: Polarized dermoscopic images of 1507 histopathologically diagnosed melanocytic neoplasms were analyzed for presence and pattern of SWSs. Histology was also reviewed for correlation. RESULTS: Among 1507 melanocytic neoplasms, SWSs were observed in 31 of 144 melanomas (22%) and 22 of 1363 benign neoplasms (1.6%) (P < .001). The sensitivity and specificity of SWSs for melanoma were 22% and 98%, respectively. Diffuse SWSs exhibited the greatest diagnostic value for melanoma, with sensitivity of 11.8% and specificity of 99.5%. Focal central and peripheral SWSs were comparable in diagnostic significance. The presence of SWSs was highly uncommon in dysplastic nevi, whereas in certain benign subgroups of nevi such as Spitz nevi and atypical genital special site nevi, SWSs were not uncommon. Diffuse SWSs correlated with greater breadth of deep fibroplasia than focal SWSs (P = .009), and SWSs correlated with greater Breslow depth among melanomas (P = .007). LIMITATIONS: This study was retrospective. CONCLUSION: Polarized dermoscopy is a valuable diagnostic tool in the identification of SWSs, a feature that is highly specific for melanoma.

5 Article Distinct Patterns of Acral Melanoma Based on Site and Relative Sun Exposure. 2018

Haugh, Alexandra M / Zhang, Bin / Quan, Victor L / Garfield, Erin M / Bubley, Jeffrey A / Kudalkar, Emily / Verzi, Anna Elisa / Walton, Kara / VandenBoom, Timothy / Merkel, Emily A / Lee, Christina Y / Tan, Timothy / Isales, Maria Cristina / Kong, Betty Y / Wenzel, Alexander T / Bunick, Christopher G / Choi, Jaehyuk / Sosman, Jeffrey / Gerami, Pedram. ·Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. · Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. · Department of Dermatology, Yale University, New Haven, Connecticut, USA. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Department of Biochemistry and Molecular Genetics, Feinberg School of Medicine, Chicago, Illinois, USA. · Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. · Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Robert H. Lurie Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. Electronic address: pgerami1@nm.org. ·J Invest Dermatol · Pubmed #28870692.

ABSTRACT: Acral melanoma is distinct from melanoma of other cutaneous sites, yet there is considerable variation within this category. To better define this variation, we assessed melanomas occurring on dorsal (n = 21), volar (n = 9), and subungual/interdigital (n = 13) acral skin as well as acral nevi (n = 24) for clinical, histologic, and molecular features. Melanomas on dorsal acral surfaces demonstrated clear differences compared with volar and subungual/interdigital melanomas. The latter two groups exhibited significantly less frequent BRAF mutations (P = 0.01), were significantly less likely to have the superficial spreading histologic subtype (P = 0.01), occurred in older patients (P = 0.05), and had more frequent involvement in non-Caucasians (P = 0.01). These differences can be explained by differing levels of UV exposure. Subungual/interdigital melanomas had the most diverse group of oncogenic mutations including PIK3CA (2/13), STK11 (2/13), EGFR (1/13), FGFR3 (1/13), and PTPN11 (1/13). In addition, subungual/interdigital melanomas had a significantly higher frequency of copy number aberrations (67%) than other subgroups (P = 0.02), particularly in CDK4 and cyclin D1, and were less likely to have BRAF mutations or a superficial spreading histologic subtype (P = 0.05) compared with volar acral melanomas. Although based on a limited sample size, differences between volar and subungual/interdigital melanomas in our study may be the result of differing levels of UV exposure.