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Pediatr Blood Cancer. 2013 Oct;60(10):E116-7. doi: 10.1002/pbc.24579. Epub 2013 May 15.

Mismatch DNA repair mRNA expression profiles in oral melanin pigmentation lesion and hamartomatous polyp of a child with Peutz-Jeghers syndrome.

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1
Department of Pathology, Medical School, University of Thessaly, Larissa, Greece. vagelidim@yahoo.gr

Abstract

Mismatch DNA repair (MMR) mRNA expression analysis was performed on a biopsy of oral mucosa melanin pigmentation lesion, a hamartomatous polyp and peripheral blood derived from a 12-year-old child with Peutz-Jeghers Syndrome (PJS). We present a deficient MMR system, in a PJS patient, which demonstrated low mRNA levels of hMSH6 and hPMS2 and an increasing MMR deficiency from the non-dysplastic lesion to hamartomatous polyp of PJS with a high risk of cancer.

KEYWORDS:

Peutz-Jeghers Syndrome; Q-RT-reall time-PCR; hMLH1; hMSH2; hMSH6; hPMS2

PMID:
23677888
DOI:
10.1002/pbc.24579
[Indexed for MEDLINE]
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