Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series

Autor: Misaki Hidaka, Moriya Iwaizumi, Terumi Taniguchi, Satoshi Baba, Satoshi Osawa, Ken Sugimoto, Masato Maekawa
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: BMC Research Notes, Vol 15, Iss 1, Pp 1-7 (2022)
Druh dokumentu: article
ISSN: 1756-0500
DOI: 10.1186/s13104-022-06245-3
Popis: Abstract Objective The serrated pathway is a distinct genetic/epigenetic mechanism of the adenoma-carcinoma sequence in colorectal carcinogenesis. Although many groups have reported the genetic-phenotypic correlation of serrated lesions (SLs), previous studies regarding the serrated pathway were conducted on patients with SLs that have different germline and environmental genetic backgrounds. We aimed to compare pure somatic genetic profiles among SLs within identical patient with SPS. Results We analyzed SLs from one patient with SPS (Case #1) and compared DNA variant profiles using targeted DNA multigene panels via NGS among the patient’s hyperplastic polyp (HP), three sessile serrated lesions (SSLs), and one traditional serrated adenoma (TSA), and separately analyzed three SSLs and one tubular adenoma (TA) within another patient with SPS (Case #2). In two patients, known pathogenic variant of BRAF (c.1799 T > A, p.Val600Glu) was observed in one TSA and one SSL in Case #1, and in three SSLs within Case #2. The pure somatic pathogenic variant BRAF (c.1799 T > A, p.Val600Glu) among SLs with identical germline genetic background supports its importance as a strong contributor for SLs.
Databáze: Directory of Open Access Journals
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