Atypical amplification of chromosome region 22q12 in melanoma: A case report

Liguori,Giuseppina; Cantile,Monica; Collina,Francesca; Marra,Laura; De Chiara,Anna; Franco,Renato; Caraglia,Michele; Botti,Gerardo; D'Andrea,Mirella; Nicoletti,Giovanni  Francesco

doi:10.3892/ol.2015.3150

July-2015 Volume 10 Issue 1

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July-2015 Volume 10 Issue 1

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Case Report

Atypical amplification of chromosome region 22q12 in melanoma: A case report

Authors:
- Giuseppina Liguori
- Monica Cantile
- Francesca Collina
- Laura Marra
- Anna De Chiara
- Renato Franco
- Michele Caraglia
- Gerardo Botti
- Mirella D'Andrea
- Giovanni Francesco Nicoletti
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Affiliations: Pathology Unit, National Cancer Institute IRCCS ̔Fondazione G. Pascale̓, Naples 80131, Italy, Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, Naples 80138, Italy, Department of Medical-Surgical and Dental Specialities, Second University of Naples, Naples 80138, Italy
Pages: 349-353
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Published online on: April 27, 2015

https://doi.org/10.3892/ol.2015.3150
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Abstract

Morphological, ultrastructural and immunohistochemical characteristics of clear cell sarcoma (CCS) of the soft tissue frequently overlap with those of malignant melanoma. Thus, the differential diagnosis between the two lesions represents an important diagnostic dilemma. However, a number of genetic factors can be used to differentiate the two tumors; in particular, the t(12;22)(q13;q12) chromosomal translocation is typical of CCS, resulting in fusion of the EWSR1 gene on chromosome 22q12 and the ATF1 gene on chromosome 12q13. The detection of this molecular alteration has proved useful in the differential diagnosis of the two lesions. The present study reports the case of a 71‑year‑old male patient with a suspicious lymph node mass. Immunohistochemical analysis of the lesion indicated a diagnosis of metastatic melanoma, however, cytogenetic analysis using fluorescence in situ hybridization was additionally performed to investigate the chromosomal rearrangements of the 22q12 region and completely exclude the possibility of CCS. The current case did not demonstrate the presence of the translocation, supporting the diagnosis of melanoma. However, a clear orange amplification signal was observed relative to an ~500‑kb region adjacent to the EWSR1 gene in the centromeric direction of chromosome 22q12. To the best of our knowledge, this is the first description of a 22q12 chromosomal alteration in melanoma. Furthermore, despite the presence of numerous genes in this region, their amplification has not previously been associated with the pathogenesis of melanoma.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Atypical amplification of chromosome region 22q12 in melanoma: A case report

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