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Updated: Aug 11, 2026
A 3D Organotypic Melanoma Spheroid Skin Model
Published on: May 18, 2018
Identification of PTEN mutations in metastatic melanoma specimens
J T Celebi1, I Shendrik, D N Silvers
1Department of Dermatology, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Context:
PTEN, a tumour suppressor gene located on chromosome 10q23, develops somatic mutations in various tumours and tumour cell lines including brain, endometrium, prostate, breast, kidney, thyroid, liver, and melanoma.
Objectives:
To investigate the mutational profile of this gene further, as well as its role in tumour progression in melanoma. DESIGN, SETTINGS: We examined 21 metastatic melanoma samples for 10q23 allelic losses and PTEN sequence alterations. Additionally, we screened these samples for mutations in CDKN2A, a gene in which alterations are well documented in primary melanoma as well as in the germline of familial melanoma.
Results:
Loss of heterozygosity (LOH) at 10q23 was observed in 33% (7/21) of the samples tested. We identified four sequence alterations in PTEN (19%) and two in CDKN2A (9.5%). Of interest, only one case showed mutations in both genes.
Conclusions:
These data support the notion that PTEN alterations occur in some metastatic melanomas, and that mutation of this gene plays a role in the progression of some forms of melanoma.
