Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series
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 con...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | BMC Research Notes |
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| Online Access: | https://doi.org/10.1186/s13104-022-06245-3 |
| _version_ | 1811186952753381376 |
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| author | Misaki Hidaka Moriya Iwaizumi Terumi Taniguchi Satoshi Baba Satoshi Osawa Ken Sugimoto Masato Maekawa |
| author_facet | Misaki Hidaka Moriya Iwaizumi Terumi Taniguchi Satoshi Baba Satoshi Osawa Ken Sugimoto Masato Maekawa |
| author_sort | Misaki Hidaka |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T13:53:42Z |
| format | Article |
| id | doaj.art-6d8a6622182d4232a7239715bad6d415 |
| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-04-11T13:53:42Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Research Notes |
| spelling | doaj.art-6d8a6622182d4232a7239715bad6d4152022-12-22T04:20:26ZengBMCBMC Research Notes1756-05002022-11-011511710.1186/s13104-022-06245-3Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case seriesMisaki Hidaka0Moriya Iwaizumi1Terumi Taniguchi2Satoshi Baba3Satoshi Osawa4Ken Sugimoto5Masato Maekawa6Department of Laboratory Medicine, Hamamatsu University School of MedicineDepartment of Laboratory Medicine, Hamamatsu University School of MedicineDepartment of Laboratory Medicine, Hamamatsu University School of MedicineDepartment of Diagnostic Pathology, Hamamatsu University HospitalDepartment of Endoscopic and Photodynamic Medicine, Hamamatsu University of School of MedicineFirst Department of Medicine, Hamamatsu University School of MedicineDepartment of Laboratory Medicine, Hamamatsu University School of MedicineAbstract 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.https://doi.org/10.1186/s13104-022-06245-3Serrated polyposis syndromeSomatic pathogenic variantSerrated pathway |
| spellingShingle | Misaki Hidaka Moriya Iwaizumi Terumi Taniguchi Satoshi Baba Satoshi Osawa Ken Sugimoto Masato Maekawa Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series BMC Research Notes Serrated polyposis syndrome Somatic pathogenic variant Serrated pathway |
| title | Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series |
| title_full | Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series |
| title_fullStr | Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series |
| title_full_unstemmed | Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series |
| title_short | Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series |
| title_sort | pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome a case series |
| topic | Serrated polyposis syndrome Somatic pathogenic variant Serrated pathway |
| url | https://doi.org/10.1186/s13104-022-06245-3 |
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