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Original article
Identification of PTEN mutations in metastatic melanoma specimens
  1. Julide Tok Çelebia,
  2. Igor Shendrikb,
  3. David N Silversa,b,
  4. Monica Peacockea
  1. aDepartment of Dermatology, Columbia University, College of Physicians & Surgeons, New York, NY, USA, bDepartment of Pathology, Columbia University, College of Physicians & Surgeons, New York, NY, USA
  1. Dr Peacocke, 630 West 168th Street, VC-1526, New York, NY 10032, USA,mp231{at}columbia.edu

Abstract

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 andPTEN sequence alterations. Additionally, we screened these samples for mutations inCDKN2A, 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.

  • PTEN
  • CDKN2A
  • melanoma

https://doi.org/10.1136/jmg.37.9.653

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