Melanoma in a patient with DNMT3A overgrowth syndrome.

Autor:	Chen DY; Division of Dermatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA; davidchen@wustl.edu., Sutton LA; Division of Dermatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Ramakrishnan SM; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Duncavage EJ; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Heath SE; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Compton LA; Division of Dermatology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Miller CA; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Ley TJ; Division of Oncology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2023 May 09; Vol. 9 (2). Date of Electronic Publication: 2023 May 09 (Print Publication: 2023).
DOI:	10.1101/mcs.a006267
Abstrakt:	Alterations in epigenetic regulators are increasingly recognized as early events in tumorigenesis; thus, patients with acquired or inherited variants in epigenetic regulators may be at increased risk for developing multiple types of cancer. DNMT3A overgrowth syndrome (DOS), caused by germline pathogenic variants in the DNA methyltransferase gene DNMT3A , has been associated with a predisposition toward development of hematopoietic and neuronal malignancies. DNMT3A deficiency has been described to promote keratinocyte proliferation in mice. Although altered DNA methylation patterns are well-recognized in melanoma, the role of DNA methyltransferases in melanoma pathogenesis is not clear. We report the case of an adult DOS patient with a germline DNMT3A loss-of-function mutation, who developed an early-onset melanoma with regional lymph node metastatic disease. Exome sequencing of the primary tumor identified an additional acquired, missense DNMT3A mutation in the dominant tumor clone, suggesting that the loss of DNMT3A function was relevant for the development of this tumor. (© 2023 Chen et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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