Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome

2018 ◽  
Vol 32 (3) ◽  
pp. 470-473
Author(s):  
Maximilian Ulrich ◽  
Sigrid Tinschert ◽  
Eberhard Siebert ◽  
Ingolf Franke ◽  
Thomas Tüting ◽  
...  
Keyword(s):  
Nras Mutation ◽  
Congenital Nevus

Halo congenital nevus

1977 ◽  
Vol 113 (11) ◽  
pp. 1572-1575 ◽  
Author(s):  
M. H. Brownstein
Keyword(s):  
Congenital Nevus

Heterochromia of congenital nevus of abdomen

1968 ◽  
Vol 98 (1) ◽  
pp. 94-95
Author(s):  
R. C. Gibbs
Keyword(s):  
Congenital Nevus

Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report

2021 ◽  
pp. 413-415
Author(s):  
Sara Alomar ◽  
Anfal Alsultan ◽  
Halah AlMuhaidib ◽  
Sarah Aldhahri ◽  
Dalal Bubshait
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Syndrome Type ◽  
Patient Case ◽  
Nras Mutation

scholarly journals No Impact of NRAS Mutation on Features of Primary and Metastatic Melanoma or on Outcomes of Checkpoint Inhibitor Immunotherapy: An Italian Melanoma Intergroup (IMI) Study

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 475
Author(s):  
Michele Guida ◽  
Nicola Bartolomeo ◽  
Pietro Quaglino ◽  
Gabriele Madonna ◽  
Jacopo Pigozzo ◽  
...  
Keyword(s):  
Metastatic Melanoma ◽  
Checkpoint Inhibitor ◽  
Progression Free Survival ◽  
Nras Mutation ◽  
Disease Free Interval ◽  
Free Survival ◽  
Mutational Status ◽  
Metastatic Sites ◽  
Disease Free ◽  
Mutant Braf

Aims: It is debated whether the NRAS-mutant melanoma is more aggressive than NRAS wildtype. It is equally controversial whether NRAS-mutant metastatic melanoma (MM) is more responsive to checkpoint inhibitor immunotherapy (CII). 331 patients treated with CII as first-line were retrospectively recruited: 162 NRAS-mutant/BRAF wild-type (mut/wt) and 169 wt/wt. We compared the two cohorts regarding the characteristics of primary and metastatic disease, disease-free interval (DFI) and outcome to CII. No substantial differences were observed between the two groups at melanoma onset, except for a more frequent ulceration in the wt/wt group (p = 0.03). Also, the DFI was very similar in the two cohorts. In advanced disease, we only found lung and brain progression more frequent in the wt/wt group. Regarding the outcomes to CII, no significant differences were reported in overall response rate (ORR), disease control rate (DCR), progression free survival (PFS) or overall survival (OS) (42% versus 37%, 60% versus 59%, 12 (95% CI, 7–18) versus 9 months (95% CI, 6–16) and 32 (95% CI, 23–49) versus 27 months (95% CI, 16–35), respectively). Irrespectively of mutational status, a longer OS was significantly associated with normal LDH, <3 metastatic sites, lower white blood cell and platelet count, lower neutrophil-to-lymphocyte (N/L) ratio. Our data do not show increased aggressiveness and higher responsiveness to CII in NRAS-mutant MM.

scholarly journals BRAF/NRAS Mutation Frequencies Among Primary Tumors and Metastases in Patients With Melanoma

2012 ◽  
Vol 30 (20) ◽  
pp. 2522-2529 ◽  
Author(s):  
Maria Colombino ◽  
Mariaelena Capone ◽  
Amelia Lissia ◽  
Antonio Cossu ◽  
Corrado Rubino ◽  
...  
Keyword(s):  
Lymph Nodes ◽  
Primary Melanoma ◽  
Similar Distribution ◽  
Nras Mutation ◽  
Tissue Samples ◽  
Primary Tumors ◽  
Paired Samples ◽  
Automated Dna Sequencing ◽  
Tumor Tissues ◽  
Visceral Metastases

Purpose The prevalence of BRAF, NRAS, and p16CDKN2A mutations during melanoma progression remains inconclusive. We investigated the prevalence and distribution of mutations in these genes in different melanoma tissues. Patients and Methods In all, 291 tumor tissues from 132 patients with melanoma were screened. Paired samples of primary melanomas (n = 102) and synchronous or asynchronous metastases from the same patients (n = 165) were included. Tissue samples underwent mutation analysis (automated DNA sequencing). Secondary lesions included lymph nodes (n = 84), and skin (n = 36), visceral (n = 25), and brain (n = 44) sites. Results BRAF/NRAS mutations were identified in 58% of primary melanomas (43% BRAF; 15% NRAS); 62% in lymph nodes, 61% subcutaneous, 56% visceral, and 70% in brain sites. Mutations were observed in 63% of metastases (48% BRAF; 15% NRAS), a nonsignificant increase in mutation frequency after progression from primary melanoma. Of the paired samples, lymph nodes (93% consistency) and visceral metastases (96% consistency) presented a highly similar distribution of BRAF/NRAS mutations versus primary melanomas, with a significantly less consistent pattern in brain (80%) and skin metastases (75%). This suggests that independent subclones are generated in some patients. p16CDKN2A mutations were identified in 7% and 14% of primary melanomas and metastases, with a low consistency (31%) between secondary and primary tumor samples. Conclusion In the era of targeted therapies, assessment of the spectrum and distribution of alterations in molecular targets among patients with melanoma is needed. Our findings about the prevalence of BRAF/NRAS/p16CDKN2A mutations in paired tumor lesions from patients with melanoma may be useful in the management of this disease.

Minimal deviation melanoma with epidermotropic metastases arising in a congenital nevus

1980 ◽  
Vol 4 (2) ◽  
pp. 175-183 ◽  
Author(s):  
Thomas F.C.S. Warner ◽  
In Sook Seo ◽  
James E. Bennett
Keyword(s):  
Congenital Nevus ◽  
Minimal Deviation
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