Skin metastases in metastatic uveal melanoma:<i>GNAQ</i>/<i>GNA11</i>mutational analysis as a valuable tool

Tsianakas, Athanasios; Böhm, Michael; Getova, V.; Metze, Dieter; Eter, Nicole; Spieker, Tilmann; Bräuninger, Andreas; Luger, T A; Sunderkötter, Cord

doi:10.1111/bjd.12291

Cited by 7 publications

(2 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, molecular studies have been found to be useful in differentiating melanoma subtypes. Tsianakas and colleagues recently reported the usefulness of GNAQ and GNA11 mutational analysis to distinguish a skin metastasis in metastatic uveal melanoma from a primary cutaneous melanoma . Fuld et al .…”

Section: Discussionmentioning

confidence: 99%

Is it a primary or metastatic melanocytic neoplasm of the central nervous system?: A molecular based approach

Cornejo

Hutchinson

Cosar

et al. 2013

Pathology International

View full text Add to dashboard Cite

Primary melanocytic neoplasms of the central nervous system (CNS) are uncommon and must be distinguished from metastatic lesions as patients with metastatic disease carry a worse prognosis. Therefore, tools to aid in the diagnosis of a primary CNS melanocytic neoplasm would be of clinical utility. Primary CNS melanocytic neoplasms, including uveal melanomas have frequent mutations in GNAQ and GNA11, but are rare in cutaneous and mucosal melanomas. Additionally, primary uveal melanomas often exhibit monosomy 3 conferring an elevated risk of metastasis. We present a 63 year-old male with a melanocytic neoplasm in the thoracic spinal cord. Molecular studies revealed the tumor contained a GNAQ mutation and four-color fluorescent in situ hybridization (FISH) composed of chromosome enumeration probes for 3, 7, 17 and a locus specific probe for 9p21/CDKN2A yielded a normal result (i.e. two copies per cell), favoring a primary versus metastatic melanocytic neoplasm of the CNS. We report a case in which the combination of mutational analysis and FISH aided in identifying the origin of the neoplasm.

show abstract

Section: Discussionmentioning

confidence: 99%

Is it a primary or metastatic melanocytic neoplasm of the central nervous system?: A molecular based approach

Cornejo

Hutchinson

Cosar

et al. 2013

Pathology International

View full text Add to dashboard Cite

show abstract

“…GNA11, the subunit of G proteins, is involved as modulators or transducers in various transmembrane signaling systems [ 22 ]. The gene mutations of GNA11 were frequently observed in human uveal melanomas, implying that it could lead to the initiation of uveal melanomas [ 23 , 24 , 25 ]. A study showed that GNA11 mutations also occurred in hepatic small vessel neoplasms [ 26 ].…”

Section: Introductionmentioning

confidence: 99%

Autoantibodies to PAX5, PTCH1, and GNA11 as Serological Biomarkers in the Detection of Hepatocellular Carcinoma in Hispanic Americans

Qiu

Wang

et al. 2023

IJMS

View full text Add to dashboard Cite

Studies have demonstrated that autoantibodies to tumor-associated antigens (TAAs) may be used as efficient biomarkers with low-cost and highly sensitive characteristics. In this study, an enzyme-linked immunosorbent assay (ELISA) was conducted to analyze autoantibodies to paired box protein Pax-5 (PAX5), protein patched homolog 1 (PTCH1), and guanine nucleotide-binding protein subunit alpha-11 (GNA11) in sera from Hispanic Americans including hepatocellular carcinoma (HCC) patients, patients with liver cirrhosis (LC), patients with chronic hepatitis (CH), as well as normal controls. Meanwhile, 33 serial sera from eight HCC patients before and after diagnosis were used to explore the potential of these three autoantibodies as early biomarkers. In addition, an independent non-Hispanic cohort was used to evaluate the specificity of these three autoantibodies. In the Hispanic cohort, at the 95.0% specificity for healthy controls, 52.0%, 44.0%, and 44.0% of HCC patients showed significantly elevated levels of autoantibodies to PAX5, PTCH1, and GNA11, respectively. Among patients with LC, the frequencies for autoantibodies to PAX5, PTCH1, and GNA11 were 32.1%, 35.7%, and 25.0%, respectively. The area under the ROC curves (AUCs) of autoantibodies to PAX5, PTCH1, and GNA11 for identifying HCC from healthy controls were 0.908, 0.924, and 0.913, respectively. When these three autoantibodies were combined as a panel, the sensitivity could be improved to 68%. The prevalence of PAX5, PTCH1, and GNA11 autoantibodies has already occurred in 62.5%, 62.5%, or 75.0% of patients before clinical diagnosis, respectively. In the non-Hispanic cohort, autoantibodies to PTCH1 showed no significant difference; however, autoantibodies to PAX5, PTCH1, and GNA11 showed potential value as biomarkers for early detection of HCC in the Hispanic population and they may monitor the transition of patients with high-risk (LC, CH) to HCC. Using a panel of the three anti-TAA autoantibodies may enhance the detection of HCC.

show abstract

Ocular Melanocytic Tumors

Yanoff¹,

Sassani²

2020

Ocular Pathology

View full text Add to dashboard Cite

Skin metastases in metastatic uveal melanoma:GNAQ/GNA11mutational analysis as a valuable tool

Abstract: Knowledge about the mutational status of uveal melanomas opens the opportunity for future targeted therapies that directly interact with the mutation and its activated signal cascades. First trials in uveal melanoma have shown promising results with MEK inhibitors.

Cited by 7 publications

References 27 publications

Is it a primary or metastatic melanocytic neoplasm of the central nervous system?: A molecular based approach

Is it a primary or metastatic melanocytic neoplasm of the central nervous system?: A molecular based approach

Autoantibodies to PAX5, PTCH1, and GNA11 as Serological Biomarkers in the Detection of Hepatocellular Carcinoma in Hispanic Americans

Ocular Melanocytic Tumors

Contact Info

Product

Resources

About