Skin layer-specific Melan-A expression during progression of human cutaneous melanoma: implications for diagnostic applications of the marker

Sztramska, Anna; Dymerska, Dagmara; Chwirot, Barbara W.

doi:10.1097/cmr.0b013e328303beac

Cited by 6 publications

(2 citation statements)

References 55 publications

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“…There were no melanomas on the palms or soles (Table S1). Fifty-six percent (33) of the melanomas had PTEN mutations and 91% (30) of the melanomas with mutations had UV type mutations occurring at dipyrimidine sites (Tables 1 and 2). PTEN mutations were found in 57% (27) of the MIS.…”

Section: Resultsmentioning

confidence: 99%

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Wang¹,

DiGiovanna²,

Stern³

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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To look for a direct role of ultraviolet radiation (UV) exposure in cutaneous melanoma induction, we studied xeroderma pigmentosum (XP) patients who have defective DNA repair resulting in a 1000-fold increase in melanoma risk. These XP melanomas have the same anatomic distribution as melanomas in the general population. We analyzed laser capture microdissection samples of skin melanomas from XP patients studied at the National Institutes of Health. The tumor suppressor gene PTEN was sequenced and analyzed for UVinduced mutations. Samples from 59 melanomas (47 melanomas in situ and 12 invasive melanomas) from 8 XP patients showed mutations in the PTEN tumor suppressor gene in 56% of the melanomas. Further, 91% of the melanomas with mutations had 1 to 4 UV type base substitution mutations (occurring at adjacent pyrimidines) (P < 0.0001 compared to random mutations). We found a high frequency of amino-acid-altering mutations in the melanomas and demonstrated that these mutations impaired PTEN function; UV damage plays a direct role in induction of mutations and in inactivation of the PTEN gene in XP melanomas including in situ, the earliest stage of melanoma. This gene is known to be a key regulator of carcinogenesis and therefore these data provide solid mechanistic support for UV protection for prevention of melanoma.

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Section: Resultsmentioning

confidence: 99%

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Wang¹,

DiGiovanna²,

Stern³

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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“…Molecular 1 and 3 overexpressed genes related to melanogenesis. MLANA and tyrosinase have been proposed as biomarkers for melanoma detection [19,20]. Tyrosinase related protein 1 (TYRP1) has been associated with prognosis and survival [21,22].…”

Section: Discussionmentioning

confidence: 99%

Sorting Transcriptomics Immune Information from Tumor Molecular Features Allows Prediction of Response to Anti-PD1 Therapy in Patients with Advanced Melanoma

Trilla-Fuertes

Gámez‐Pozo

Prado-Vázquez

et al. 2023

IJMS

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Immunotherapy based on anti-PD1 antibodies has improved the outcome of advanced melanoma. However, prediction of response to immunotherapy remains an unmet need in the field. Tumor PD-L1 expression, mutational burden, gene profiles and microbiome profiles have been proposed as potential markers but are not used in clinical practice. Probabilistic graphical models and classificatory algorithms were used to classify melanoma tumor samples from a TCGA cohort. A cohort of patients with advanced melanoma treated with PD-1 inhibitors was also analyzed. We established that gene expression data can be grouped in two different layers of information: immune and molecular. In the TCGA, the molecular classification provided information on processes such as epidermis development and keratinization, melanogenesis, and extracellular space and membrane. The immune layer classification was able to distinguish between responders and non-responders to immunotherapy in an independent series of patients with advanced melanoma treated with PD-1 inhibitors. We established that the immune information is independent than molecular features of the tumors in melanoma TCGA cohort, and an immune classification of these tumors was established. This immune classification was capable to determine what patients are going to respond to immunotherapy in a new cohort of patients with advanced melanoma treated with PD-1 inhibitors Therefore, this immune signature could be useful to the clinicians to identify those patients who will respond to immunotherapy.

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The Markers Auxiliary in Differential Diagnosis of Early Melanomas and Benign Nevi Sharing Some Similar Features Potentially Leading to Misdiagnosis – A Review of Immunohistochemical Studies

Kuźbicki

Brożyna

2022

Cancer Investigation

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Skin layer-specific Melan-A expression during progression of human cutaneous melanoma: implications for diagnostic applications of the marker

Cited by 6 publications

References 55 publications

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas

Sorting Transcriptomics Immune Information from Tumor Molecular Features Allows Prediction of Response to Anti-PD1 Therapy in Patients with Advanced Melanoma

The Markers Auxiliary in Differential Diagnosis of Early Melanomas and Benign Nevi Sharing Some Similar Features Potentially Leading to Misdiagnosis – A Review of Immunohistochemical Studies

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